NR2F1 (nuclear receptor subfamily 2 group F member 1) - Rat Genome Database

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Gene: NR2F1 (nuclear receptor subfamily 2 group F member 1) Homo sapiens
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Symbol: NR2F1
Name: nuclear receptor subfamily 2 group F member 1
RGD ID: 732429
HGNC Page HGNC:7975
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Implicated in Bosch-Boonstra-Schaaf optic atrophy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BBOAS; BBSOAS; chicken ovalbumin upstream promoter-transcription factor I; COUP transcription factor 1; COUP transcription factor I; COUP-TF I; COUP-TF1; COUP-TFI; COUPTF1; EAR-3; EAR3; ERBAL3; NR2F2; nuclear receptor subfamily 2, group F, member 1; SVP44; TCFCOUP1; TFCOUP1; transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3); V-erbA-related protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38593,583,222 - 93,594,611 (+)NCBIGRCh38GRCh38hg38GRCh38GRCh38.p14 Ensembl593,583,222 - 93,594,611 (+)EnsemblGRCh38hg38GRCh38GRCh37592,918,928 - 92,930,317 (+)NCBIGRCh37GRCh37hg19GRCh37Build 36592,944,799 - 92,955,544 (+)NCBINCBI36Build 36hg18NCBI36Build 34592,944,798 - 92,955,540NCBICelera588,778,440 - 88,789,186 (+)NCBICeleraCytogenetic Map5q15NCBIHuRef588,092,169 - 88,102,739 (+)NCBIHuRefCHM1_1592,351,749 - 92,362,489 (+)NCBICHM1_1T2T-CHM13v2.0594,067,283 - 94,078,673 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
NR2F1Humanautism spectrum disorder  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autism spectrum disorderClinVarPMID:25741868
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:31729143
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25741868
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:24462372 and PMID:26350515
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:24462372
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:24462372 more ...
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:28492532 and PMID:34466801
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25741868 and PMID:28492532
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVar 
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25741868 more ...
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:31393201 and PMID:32407885
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25741868 more ...
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:26986877 and PMID:28963436
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:24462372 more ...
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25741869
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25741879
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:18414213
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25326637 more ...
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:24462372 more ...
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:25741868 and PMID:32712214
NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndromeClinVarPMID:29410510
NR2F1HumanDevelopmental Disabilities  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:25741868
NR2F1Humanepilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SeizureClinVar 
NR2F1Humanfamilial adenomatous polyposis 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Familial adenomatous polyposis 1ClinVarPMID:17963004 more ...
NR2F1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868
NR2F1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
NR2F1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:32275123
NR2F1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 more ...
NR2F1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
NR2F1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:36651297
NR2F1HumanHereditary Neoplastic Syndromes  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary cancer-predisposing syndromeClinVarPMID:17963004 more ...
NR2F1HumanNeurodevelopmental Disorders  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868

Imported Disease Annotations - CTD

Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
NR2F1HumanBreast Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:11850205
NR2F1Humanovarian cyst  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:21239663

Imported Disease Annotations - MGI

Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  ISSNr2f1 (Mus musculus)13592920OMIM:615722MouseDO 

Imported Disease Annotations - OMIM

Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1HumanBosch-Boonstra-Schaaf optic atrophy syndrome  IAGP 7240710 OMIM 

Gene-Chemical Interaction Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1Human1,2-dimethylhydrazine multiple interactionsISONr2f1 (Rattus norvegicus)6480464[APC protein affects the susceptibility to 1 and 2-Dimethylhydrazine] which results in decreased expression of NR2F1 mRNACTDPMID:27840820NR2F1Human1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine increases expressionISONr2f1 (Rattus norvegicus)6480464chlorcyclizine results in increased expression of NR2F1 mRNACTDPMID:21058326NR2F1Human17alpha-ethynylestradiol decreases expressionISONr2f1 (Rattus norvegicus)6480464Ethinyl Estradiol results in decreased expression of NR2F1 mRNACTDPMID:15576828 and PMID:17557909NR2F1Human17alpha-ethynylestradiol affects expressionISONr2f1 (Mus musculus)6480464Ethinyl Estradiol affects the expression of NR2F1 mRNACTDPMID:17555576NR2F1Human17beta-estradiol increases expressionISONr2f1 (Mus musculus)6480464Estradiol results in increased expression of NR2F1 mRNACTDPMID:19484750NR2F1Human17beta-estradiol multiple interactionsEXP 6480464[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of NR2F1 mRNACTDPMID:20823114NR2F1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISONr2f1 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of NR2F1 mRNACTDPMID:24058054NR2F1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISONr2f1 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of NR2F1 mRNACTDPMID:33387578NR2F1Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsEXP 6480464NR2F1 protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 mRNA]CTDPMID:10620335NR2F1Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISONr2f1 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the reaction [AHR protein binds to NR2F1 promoter]CTDPMID:19654925NR2F1Human2,4,6-trinitrobenzenesulfonic acid increases expressionISONr2f1 (Rattus norvegicus)6480464Trinitrobenzenesulfonic Acid results in increased expression of NR2F1 mRNACTDPMID:23537331NR2F1Human2-methylcholine affects expressionEXP 6480464beta-methylcholine affects the expression of NR2F1 mRNACTDPMID:21179406NR2F1Human3,3',5,5'-tetrabromobisphenol A decreases expressionISONr2f1 (Mus musculus)6480464tetrabromobisphenol A results in decreased expression of NR2F1 mRNACTDPMID:25172293NR2F1Human3H-1,2-dithiole-3-thione decreases expressionISONr2f1 (Rattus norvegicus)64804641 and 2-dithiol-3-thione results in decreased expression of NR2F1 mRNACTDPMID:19162173NR2F1Human4,4'-diaminodiphenylmethane decreases expressionISONr2f1 (Rattus norvegicus)64804644 and 4'-diaminodiphenylmethane results in decreased expression of NR2F1 mRNACTDPMID:30723492NR2F1Human5-aza-2'-deoxycytidine multiple interactionsEXP 6480464TP53 protein affects the reaction [Decitabine results in decreased expression of NR2F1 mRNA]CTDPMID:19363521NR2F1Human5-aza-2'-deoxycytidine decreases expressionEXP 6480464Decitabine results in decreased expression of NR2F1 mRNACTDPMID:19363521NR2F1Human6-propyl-2-thiouracil increases expressionISONr2f1 (Rattus norvegicus)6480464Propylthiouracil results in increased expression of NR2F1 mRNACTDPMID:24780913NR2F1Human7,12-dimethyltetraphene decreases expressionISONr2f1 (Rattus norvegicus)64804649 more ...CTDPMID:19480007NR2F1Humanacetamide increases expressionISONr2f1 (Rattus norvegicus)6480464acetamide results in increased expression of NR2F1 mRNACTDPMID:31881176NR2F1Humanacrylamide decreases expressionEXP 6480464Acrylamide results in decreased expression of NR2F1 mRNACTDPMID:32763439NR2F1Humanaldehydo-D-glucose multiple interactionsEXP 6480464Glucose affects the reaction [NR2F1 protein binds to SHBG promoter]CTDPMID:17992261NR2F1Humanall-trans-retinoic acid increases expressionEXP 6480464Tretinoin results in increased expression of NR2F1 mRNACTDPMID:22906706 and PMID:30416051NR2F1Humanalpha-naphthoflavone affects bindingEXP 6480464[alpha-naphthoflavone binds to AHR protein] which binds to NR2F1 proteinCTDPMID:10620335NR2F1Humanammonium chloride affects expressionISONr2f1 (Rattus norvegicus)6480464Ammonium Chloride affects the expression of NR2F1 mRNACTDPMID:16483693NR2F1Humanamphotericin B decreases expressionEXP 6480464Amphotericin B analog results in decreased expression of NR2F1 mRNACTDPMID:28534445NR2F1Humanantimycin A decreases expressionEXP 6480464Antimycin A results in decreased expression of NR2F1 mRNACTDPMID:33512557NR2F1Humanarachidonic acid decreases expressionEXP 6480464Arachidonic Acid results in decreased expression of NR2F1 mRNACTDPMID:16704987NR2F1Humanarotinoid acid multiple interactionsEXP 6480464[4-(2-(5 more ...CTDPMID:34480604NR2F1Humanatrazine decreases expressionEXP 6480464Atrazine results in decreased expression of NR2F1 mRNACTDPMID:22378314NR2F1Humanbenzo[a]pyrene multiple interactionsISONr2f1 (Mus musculus)6480464Benzo(a)pyrene affects the reaction [AHR protein binds to NR2F1 promoter]CTDPMID:19654925NR2F1Humanbenzo[a]pyrene decreases methylationEXP 6480464Benzo(a)pyrene results in decreased methylation of NR2F1 3' UTRCTDPMID:27901495NR2F1Humanbenzo[a]pyrene increases methylationEXP 6480464Benzo(a)pyrene results in increased methylation of NR2F1 promoterCTDPMID:27901495NR2F1Humanbenzo[a]pyrene diol epoxide I decreases expressionEXP 64804647 more ...CTDPMID:19150397NR2F1HumanBenzo[ghi]perylene increases expressionEXP 64804641 and 12-benzoperylene results in increased expression of NR2F1 mRNACTDPMID:35182551NR2F1HumanBenzo[ghi]perylene multiple interactionsEXP 64804642-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [1 more ...CTDPMID:35182551NR2F1Humanbeta-naphthoflavone affects bindingEXP 6480464[beta-Naphthoflavone binds to AHR protein] which binds to NR2F1 proteinCTDPMID:10620335NR2F1Humanbisphenol A decreases expressionISONr2f1 (Rattus norvegicus)6480464bisphenol A results in decreased expression of NR2F1 mRNACTDPMID:25181051NR2F1Humanbisphenol A increases expressionISONr2f1 (Mus musculus)6480464bisphenol A results in increased expression of NR2F1 mRNACTDPMID:32365465 and PMID:35479511NR2F1Humanbisphenol A increases methylationEXP 6480464bisphenol A results in increased methylation of NR2F1 geneCTDPMID:31601247NR2F1Humanbisphenol A increases expressionISONr2f1 (Rattus norvegicus)6480464bisphenol A results in increased expression of NR2F1 mRNACTDPMID:33296240NR2F1Humanbisphenol A affects methylationISONr2f1 (Mus musculus)6480464bisphenol A affects the methylation of NR2F1 promoterCTDPMID:27334623NR2F1Humanbucladesine multiple interactionsEXP 6480464[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of NR2F1 mRNACTDPMID:20823114NR2F1Humanbutanal decreases expressionEXP 6480464butyraldehyde results in decreased expression of NR2F1 mRNACTDPMID:26079696NR2F1Humancadmium dichloride decreases expressionISONr2f1 (Mus musculus)6480464Cadmium Chloride results in decreased expression of NR2F1 mRNACTDPMID:18974090NR2F1Humancadmium dichloride increases expressionISONr2f1 (Rattus norvegicus)6480464Cadmium Chloride results in increased expression of NR2F1 mRNACTDPMID:33453195NR2F1Humancalcitriol increases expressionEXP 6480464Calcitriol results in increased expression of NR2F1 mRNACTDPMID:16002434NR2F1Humancarbamazepine affects expressionEXP 6480464Carbamazepine affects the expression of NR2F1 mRNACTDPMID:24752500NR2F1Humancarbon nanotube decreases expressionISONr2f1 (Mus musculus)6480464Nanotubes and Carbon analog results in decreased expression of NR2F1 mRNACTDPMID:25554681NR2F1Humancarmustine affects response to substanceEXP 6480464NR2F1 mRNA affects the susceptibility to CarmustineCTDPMID:16365179NR2F1HumanCGP 52608 multiple interactionsEXP 6480464CGP 52608 promotes the reaction [RORA protein binds to NR2F1 gene]CTDPMID:28238834NR2F1HumanCHIR 99021 multiple interactionsEXP 6480464[4-(2-(5 more ...CTDPMID:34480604NR2F1Humanchlordecone increases expressionISONr2f1 (Mus musculus)6480464Chlordecone results in increased expression of NR2F1 mRNACTDPMID:33711761NR2F1Humanciglitazone multiple interactionsEXP 6480464NR2F1 protein promotes the reaction [[SR 11237 co-treated with ciglitazone] results in increased expression of RARB protein]CTDPMID:12839938NR2F1Humancisplatin decreases expressionEXP 6480464Cisplatin results in decreased expression of NR2F1 mRNACTDPMID:27392435NR2F1Humancisplatin multiple interactionsEXP 6480464[Cisplatin co-treated with jinfukang] results in decreased expression of NR2F1 mRNACTDPMID:27392435NR2F1Humanclobetasol decreases expressionISONr2f1 (Mus musculus)6480464Clobetasol results in decreased expression of NR2F1 mRNACTDPMID:27462272NR2F1Humancobalt dichloride decreases expressionEXP 6480464cobaltous chloride results in decreased expression of NR2F1 mRNACTDPMID:19376846NR2F1Humancopper atom multiple interactionsEXP 6480464[NSC 689534 binds to Copper] which results in decreased expression of NR2F1 mRNACTDPMID:20971185NR2F1Humancopper(0) multiple interactionsEXP 6480464[NSC 689534 binds to Copper] which results in decreased expression of NR2F1 mRNACTDPMID:20971185NR2F1Humancopper(II) sulfate decreases expressionEXP 6480464Copper Sulfate results in decreased expression of NR2F1 mRNACTDPMID:19549813NR2F1Humancortisol multiple interactionsEXP 6480464[4-(2-(5 more ...CTDPMID:34480604NR2F1Humancyclosporin A decreases expressionEXP 6480464Cyclosporine results in decreased expression of NR2F1 mRNACTDPMID:20106945 more ...NR2F1HumanD-glucose multiple interactionsEXP 6480464Glucose affects the reaction [NR2F1 protein binds to SHBG promoter]CTDPMID:17992261NR2F1Humandeguelin decreases expressionEXP 6480464deguelin results in decreased expression of NR2F1 mRNACTDPMID:33512557NR2F1Humandexamethasone decreases expressionISONr2f1 (Rattus norvegicus)6480464Dexamethasone results in decreased expression of NR2F1 mRNACTDPMID:20032058NR2F1Humandexamethasone decreases expressionISONr2f1 (Mus musculus)6480464Dexamethasone results in decreased expression of NR2F1 mRNACTDPMID:22733784NR2F1Humandexamethasone multiple interactionsISONr2f1 (Rattus norvegicus)6480464Testosterone inhibits the reaction [Dexamethasone results in decreased expression of NR2F1 mRNA]CTDPMID:20032058NR2F1Humandexamethasone increases expressionEXP 6480464Dexamethasone results in increased expression of NR2F1 mRNACTDPMID:19022236NR2F1Humandiallyl trisulfide decreases expressionEXP 6480464diallyl trisulfide results in decreased expression of NR2F1 mRNACTDPMID:34995734NR2F1Humandichlorine multiple interactionsISONr2f1 (Rattus norvegicus)6480464[Ozone co-treated with Chlorine] results in increased expression of NR2F1 mRNACTDPMID:18636392NR2F1Humandiclofenac affects expressionEXP 6480464Diclofenac affects the expression of NR2F1 mRNACTDPMID:24752500NR2F1Humandicrotophos increases expressionEXP 6480464dicrotophos results in increased expression of NR2F1 mRNACTDPMID:28302478NR2F1Humandiethylstilbestrol increases expressionEXP 6480464Diethylstilbestrol results in increased expression of NR2F1 mRNACTDPMID:36621641NR2F1Humandioxygen multiple interactionsISONr2f1 (Mus musculus)6480464[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of NR2F1 mRNACTDPMID:30529165NR2F1Humandorsomorphin multiple interactionsEXP 6480464[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...CTDPMID:27188386NR2F1Humanendosulfan increases expressionISONr2f1 (Rattus norvegicus)6480464Endosulfan results in increased expression of NR2F1 mRNACTDPMID:29391264NR2F1Humanentinostat decreases expressionEXP 6480464entinostat results in decreased expression of NR2F1 mRNACTDPMID:26272509NR2F1Humanentinostat multiple interactionsEXP 6480464[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NR2F1 mRNACTDPMID:27188386NR2F1Humanepoxiconazole decreases expressionISONr2f1 (Mus musculus)6480464epoxiconazole results in decreased expression of NR2F1 mRNACTDPMID:35436446NR2F1Humanethanol decreases expressionISONr2f1 (Rattus norvegicus)6480464Ethanol results in decreased expression of NR2F1 mRNACTDPMID:15353170NR2F1Humanethanol affects expressionISONr2f1 (Mus musculus)6480464Ethanol affects the expression of NR2F1 mRNACTDPMID:30319688NR2F1Humanethyl methanesulfonate decreases expressionEXP 6480464Ethyl Methanesulfonate results in decreased expression of NR2F1 mRNACTDPMID:23649840NR2F1Humanfenpyroximate decreases expressionEXP 6480464fenpyroximate results in decreased expression of NR2F1 mRNACTDPMID:33512557NR2F1Humanfructose multiple interactionsEXP 6480464Fructose affects the reaction [NR2F1 protein binds to SHBG promoter]CTDPMID:17992261NR2F1Humangeraniol decreases expressionEXP 6480464geraniol results in decreased expression of NR2F1 mRNACTDPMID:27683099NR2F1Humanglucose multiple interactionsEXP 6480464Glucose affects the reaction [NR2F1 protein binds to SHBG promoter]CTDPMID:17992261NR2F1Humanhydroquinone O-beta-D-glucopyranoside increases expressionEXP 6480464Arbutin results in increased expression of NR2F1 mRNACTDPMID:17103032NR2F1Humanisotretinoin increases expressionEXP 6480464Isotretinoin results in increased expression of NR2F1 mRNACTDPMID:20436886NR2F1Humanketoconazole increases expressionEXP 6480464Ketoconazole results in increased expression of NR2F1 mRNACTDPMID:36621641NR2F1HumanL-ascorbic acid multiple interactionsEXP 6480464[[Ascorbic Acid co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein co-treated with FGF1 protein co-treated with WNT3A protein co-treated with HGF protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of NR2F1 mRNACTDPMID:34480604NR2F1HumanL-ascorbic acid 2-phosphate multiple interactionsEXP 6480464[[ascorbate-2-phosphate co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of NR2F1 mRNACTDPMID:34480604NR2F1Humanmanganese atom decreases expressionISONr2f1 (Mus musculus)6480464Manganese results in decreased expression of NR2F1 mRNACTDPMID:23976782NR2F1Humanmanganese atom increases methylationISONr2f1 (Mus musculus)6480464Manganese results in increased methylation of NR2F1 promoterCTDPMID:23976782NR2F1Humanmanganese(0) decreases expressionISONr2f1 (Mus musculus)6480464Manganese results in decreased expression of NR2F1 mRNACTDPMID:23976782NR2F1Humanmanganese(0) increases methylationISONr2f1 (Mus musculus)6480464Manganese results in increased methylation of NR2F1 promoterCTDPMID:23976782NR2F1Humanmedroxyprogesterone acetate multiple interactionsEXP 6480464[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of NR2F1 mRNACTDPMID:20823114NR2F1Humanmercury dibromide decreases expressionEXP 6480464mercuric bromide results in decreased expression of NR2F1 mRNACTDPMID:26272509NR2F1Humanmercury dibromide multiple interactionsEXP 6480464[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NR2F1 mRNACTDPMID:27188386NR2F1Humanmethyl methanesulfonate decreases expressionEXP 6480464Methyl Methanesulfonate results in decreased expression of NR2F1 mRNACTDPMID:23649840NR2F1Humanmethylmercury chloride decreases expressionEXP 6480464methylmercuric chloride results in decreased expression of NR2F1 mRNACTDPMID:28001369NR2F1HumanN-methyl-4-phenylpyridinium decreases expressionEXP 64804641-Methyl-4-phenylpyridinium results in decreased expression of NR2F1 mRNACTDPMID:24810058NR2F1Humanoxaliplatin increases expressionEXP 6480464oxaliplatin results in increased expression of NR2F1 mRNACTDPMID:17762391NR2F1Humanozone multiple interactionsISONr2f1 (Rattus norvegicus)6480464[Ozone co-treated with Chlorine] results in increased expression of NR2F1 mRNACTDPMID:18636392NR2F1Humanozone multiple interactionsISONr2f1 (Mus musculus)6480464[Air Pollutants results in increased abundance of Ozone] which results in decreased expression of NR2F1 mRNACTDPMID:34911549NR2F1Humanp-chloromercuribenzoic acid decreases expressionEXP 6480464p-Chloromercuribenzoic Acid results in decreased expression of NR2F1 mRNACTDPMID:26272509NR2F1Humanp-chloromercuribenzoic acid multiple interactionsEXP 6480464[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NR2F1 mRNACTDPMID:27188386NR2F1Humanpanobinostat multiple interactionsEXP 6480464[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of NR2F1 mRNACTDPMID:27188386NR2F1Humanpanobinostat increases expressionEXP 6480464panobinostat results in increased expression of NR2F1 mRNACTDPMID:26272509NR2F1Humanparacetamol affects expressionISONr2f1 (Mus musculus)6480464Acetaminophen affects the expression of NR2F1 mRNACTDPMID:17562736NR2F1Humanparacetamol increases expressionEXP 6480464Acetaminophen results in increased expression of NR2F1 mRNACTDPMID:21420995NR2F1Humanparaquat increases expressionISONr2f1 (Rattus norvegicus)6480464Paraquat results in increased expression of NR2F1 mRNACTDPMID:18198484NR2F1Humanparaquat decreases expressionISONr2f1 (Rattus norvegicus)6480464Paraquat results in decreased expression of NR2F1 mRNACTDPMID:32680482NR2F1Humanphenylmercury acetate increases expressionEXP 6480464Phenylmercuric Acetate results in increased expression of NR2F1 mRNACTDPMID:26272509NR2F1Humanphenylmercury acetate multiple interactionsEXP 6480464[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of NR2F1 mRNACTDPMID:27188386NR2F1Humanphenytoin increases expressionISONr2f1 (Rattus norvegicus)6480464Phenytoin results in increased expression of NR2F1 mRNACTDPMID:20345932NR2F1Humanpirinixic acid multiple interactionsISONr2f1 (Mus musculus)6480464[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NR2F1 mRNACTDPMID:19710929NR2F1Humanpirinixic acid increases expressionISONr2f1 (Rattus norvegicus)6480464pirinixic acid results in increased expression of NR2F1 mRNACTDPMID:12832660NR2F1Humanresveratrol multiple interactionsEXP 6480464[Plant Extracts co-treated with Resveratrol] results in decreased expression of NR2F1 mRNACTDPMID:23557933NR2F1HumanS-(1,2-dichlorovinyl)-L-cysteine decreases expressionEXP 6480464S-(1 and 2-dichlorovinyl)cysteine results in decreased expression of NR2F1 mRNACTDPMID:33725128NR2F1HumanSB 431542 multiple interactionsEXP 6480464[LDN 193189 co-treated with 4-(5-benzo(1 more ...CTDPMID:27188386 and PMID:34480604NR2F1Humansilicon dioxide increases methylationEXP 6480464Silicon Dioxide results in increased methylation of NR2F1 3' UTR and Silicon Dioxide results in increased methylation of NR2F1 geneCTDPMID:34973136NR2F1Humansilver atom decreases expressionISONr2f1 (Mus musculus)6480464Silver results in decreased expression of NR2F1 mRNACTDPMID:27131904NR2F1Humansilver(0) decreases expressionISONr2f1 (Mus musculus)6480464Silver results in decreased expression of NR2F1 mRNACTDPMID:27131904NR2F1Humansodium arsenite decreases expressionISONr2f1 (Mus musculus)6480464sodium arsenite results in decreased expression of NR2F1 mRNACTDPMID:16014739NR2F1Humansodium arsenite affects expressionEXP 6480464sodium arsenite affects the expression of NR2F1 mRNACTDPMID:34032870NR2F1Humantamoxifen decreases activityISONr2f1 (Mus musculus)6480464Tamoxifen results in decreased activity of NR2F1 proteinCTDPMID:20937368NR2F1Humantamoxifen decreases expressionISONr2f1 (Mus musculus)6480464Tamoxifen results in decreased expression of NR2F1 mRNACTDPMID:29974145NR2F1Humantebufenpyrad decreases expressionEXP 64804644-chloro-N-((4-(1 and 1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide results in decreased expression of NR2F1 mRNACTDPMID:33512557NR2F1Humantemozolomide affects response to substanceEXP 6480464NR2F1 mRNA affects the susceptibility to temozolomideCTDPMID:16365179NR2F1Humantemozolomide increases expressionEXP 6480464Temozolomide results in increased expression of NR2F1 mRNACTDPMID:31758290NR2F1Humantestosterone multiple interactionsISONr2f1 (Rattus norvegicus)6480464Testosterone inhibits the reaction [Dexamethasone results in decreased expression of NR2F1 mRNA]CTDPMID:20032058NR2F1Humantestosterone decreases expressionEXP 6480464Testosterone results in decreased expression of NR2F1 mRNACTDPMID:33359661NR2F1Humanthapsigargin decreases expressionEXP 6480464Thapsigargin results in decreased expression of NR2F1 mRNACTDPMID:29453283NR2F1Humanthifluzamide decreases expressionEXP 6480464thifluzamide results in decreased expression of NR2F1 mRNACTDPMID:33512557NR2F1Humanthioacetamide decreases expressionISONr2f1 (Rattus norvegicus)6480464Thioacetamide results in decreased expression of NR2F1 mRNACTDPMID:34492290NR2F1Humantitanium dioxide increases methylationEXP 6480464titanium dioxide results in increased methylation of NR2F1 3' UTR and titanium dioxide results in increased methylation of NR2F1 geneCTDPMID:34973136NR2F1Humantriacsin C decreases expressionEXP 6480464triacsin C results in decreased expression of NR2F1 mRNACTDPMID:16704987NR2F1Humantrichostatin A increases expressionEXP 6480464trichostatin A results in increased expression of NR2F1 mRNACTDPMID:24935251 and PMID:26272509NR2F1Humantrichostatin A multiple interactionsEXP 6480464[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of NR2F1 mRNACTDPMID:27188386NR2F1Humantriclosan decreases expressionEXP 6480464Triclosan results in decreased expression of NR2F1 mRNACTDPMID:30510588NR2F1Humanurethane increases expressionEXP 6480464Urethane results in increased expression of NR2F1 mRNACTDPMID:28818685NR2F1Humanvalproic acid increases methylationEXP 6480464Valproic Acid results in increased methylation of NR2F1 geneCTDPMID:29154799NR2F1Humanvalproic acid affects expressionEXP 6480464Valproic Acid affects the expression of NR2F1 mRNACTDPMID:25979313NR2F1Humanvalproic acid increases expressionEXP 6480464Valproic Acid results in increased expression of NR2F1 mRNACTDPMID:23179753 more ...NR2F1Humanvalproic acid multiple interactionsEXP 6480464[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of NR2F1 mRNACTDPMID:27188386NR2F1Humanvitamin E increases expressionEXP 6480464Vitamin E results in increased expression of NR2F1 mRNACTDPMID:19244175NR2F1HumanXAV939 multiple interactionsEXP 6480464[[ascorbate-2-phosphate co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of NR2F1 mRNA and [[Ascorbic Acid co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein co-treated with FGF1 protein co-treated with WNT3A protein co-treated with HGF protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of NR2F1 mRNACTDPMID:34480604
Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

  
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1Humancell differentiation involved_inIEAPANTHER:PTN000638964150520179 TreeGrafterGO_REF:0000118NR2F1Humancell differentiation involved_inIBAFB:FBgn0003651 more ...150520179 GO_CentralGO_REF:0000033NR2F1Humancerebral cortex regionalization acts_upstream_of_or_withinISOMGI:35217569068941 PMID:17828260MGIPMID:17828260NR2F1Humanforebrain development acts_upstream_of_or_withinISONr2f1 (Mus musculus)9068941 PMID:15548577MGIPMID:15548577NR2F1Humaninterneuron migration acts_upstream_of_or_withinISONr2f1 (Mus musculus)9068941 PMID:15548577MGIPMID:15548577NR2F1Humanintracellular receptor signaling pathway involved_inIEAGO:0004879150520179 GOCGO_REF:0000108NR2F1Humannegative regulation of neuron projection development  ISONr2f1 (Rattus norvegicus)9068941 RGDPMID:7797489 and REF_RGD_ID:633499NR2F1Humannegative regulation of neuron projection development involved_inIEAUniProtKB:F2Z3S9 and ensembl:ENSRNOP00000020044150520179 EnsemblGO_REF:0000107NR2F1Humannegative regulation of transcription by RNA polymerase II involved_inIEAPANTHER:PTN000638964150520179 TreeGrafterGO_REF:0000118NR2F1Humannegative regulation of transcription by RNA polymerase II acts_upstream_of_or_withinISONr2f1 (Mus musculus)9068941 PMID:7823919MGIPMID:7823919NR2F1Humannegative regulation of transcription by RNA polymerase II involved_inIBAMGI:1352451 more ...150520179 GO_CentralGO_REF:0000033NR2F1Humannegative regulation of transcription by RNA polymerase II involved_inIDA 150520179 PMID:10644740UniProtPMID:10644740NR2F1Humannervous system development  ISONr2f1 (Rattus norvegicus)9068941 RGDPMID:7797489 and REF_RGD_ID:633499NR2F1Humannervous system development involved_inIEAUniProtKB:F2Z3S9 and ensembl:ENSRNOP00000020044150520179 EnsemblGO_REF:0000107NR2F1Humanneuron migration acts_upstream_of_or_withinISONr2f1 (Mus musculus)9068941 PMID:15548577MGIPMID:15548577NR2F1Humanpositive regulation of miRNA transcription acts_upstream_of_or_withinISOMGI:23859309068941 PMID:24349493MGIPMID:24349493NR2F1Humanpositive regulation of transcription by RNA polymerase II involved_inIEAPANTHER:PTN000638964150520179 TreeGrafterGO_REF:0000118NR2F1Humanpositive regulation of transcription by RNA polymerase II involved_inIBAPANTHER:PTN002786783 and Nr2f1 (Rattus norvegicus)150520179 GO_CentralGO_REF:0000033NR2F1Humanpositive regulation of transcription by RNA polymerase II involved_inIEAUniProtKB:F2Z3S9 and ensembl:ENSRNOP00000020044150520179 EnsemblGO_REF:0000107NR2F1Humanpositive regulation of transcription by RNA polymerase II  ISONr2f1 (Rattus norvegicus)9068941 RGDPMID:7797489 and REF_RGD_ID:633499NR2F1Humanregulation of DNA-templated transcription involved_inIEAInterPro:IPR001628 and InterPro:IPR013088150520179 InterProGO_REF:0000002NR2F1Humanregulation of gene expression acts_upstream_of_or_withinISOMGI:26768259068941 PMID:24349493MGIPMID:24349493NR2F1Humansignal transduction involved_inTAS 150520179 PMID:2739739PINCPMID:2739739

Cellular Component

  
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1Humancytosol located_inIDA 150520179 HPAGO_REF:0000052NR2F1Humannucleoplasm located_inTAS 150520179 ReactomeReactome:R-HSA-376419 and Reactome:R-HSA-382096NR2F1Humannucleoplasm located_inIEAARBA:ARBA00026290150520179 UniProtGO_REF:0000117NR2F1Humannucleoplasm located_inIDA 150520179 HPAGO_REF:0000052NR2F1Humannucleus located_inIDA 150520179 PMID:10644740UniProtPMID:10644740NR2F1Humannucleus located_inIEAUniProtKB-KW:KW-0539150520179 UniProtGO_REF:0000043NR2F1Humannucleus located_inIEAUniProtKB-SubCell:SL-0191150520179 UniProtGO_REF:0000044

Molecular Function

  
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1HumanDNA binding enablesIEAUniProtKB-KW:KW-0238150520179 UniProtGO_REF:0000043NR2F1HumanDNA-binding transcription factor activity enablesTAS 150520179 PMID:2739739PINCPMID:2739739NR2F1HumanDNA-binding transcription factor activity enablesIEAInterPro:IPR001628150520179 InterProGO_REF:0000002NR2F1HumanDNA-binding transcription factor activity enablesIDA 150520179 PMID:10644740UniProtPMID:10644740NR2F1HumanDNA-binding transcription repressor activity, RNA polymerase II-specific enablesIDA 150520179 PMID:10644740NTNU_SBPMID:10644740NR2F1Humanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043NR2F1Humannuclear receptor activity enablesIEAPANTHER:PTN000638964150520179 TreeGrafterGO_REF:0000118NR2F1Humannuclear receptor activity enablesIBAFB:FBgn0015239 more ...150520179 GO_CentralGO_REF:0000033NR2F1Humanprotein binding enablesIPIUniProtKB:P61374150520179 PMID:11043578BHF-UCLPMID:11043578NR2F1Humanprotein binding enablesIPIUniProtKB:Q00403150520179 PMID:1517211UniProtPMID:1517211NR2F1Humanretinoic acid-responsive element binding  ISONr2f1 (Rattus norvegicus)9068941 RGDPMID:7797489 and REF_RGD_ID:633499NR2F1Humanretinoic acid-responsive element binding enablesIEAUniProtKB:F2Z3S9 and ensembl:ENSRNOP00000020044150520179 EnsemblGO_REF:0000107NR2F1HumanRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIEAPANTHER:PTN000638964150520179 TreeGrafterGO_REF:0000118NR2F1HumanRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIBAMGI:109128 more ...150520179 GO_CentralGO_REF:0000033NR2F1HumanRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIDA 150520179 PMID:10644740NTNU_SBPMID:10644740NR2F1Humansequence-specific DNA binding enablesIDA 150520179 PMID:10644740UniProtPMID:10644740NR2F1Humansequence-specific DNA binding enablesIEAInterPro:IPR001628150520179 InterProGO_REF:0000002NR2F1Humansequence-specific double-stranded DNA binding enablesIDA 150520179 PMID:28473536ARUK-UCLPMID:28473536NR2F1Humanzinc ion binding enablesIEAInterPro:IPR001628 and InterPro:IPR013088150520179 InterProGO_REF:0000002

Phenotype Annotations    Click to see Annotation Detail View

Imported Human Phenotype Annotations - HPO

Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1HumanAbnormal facial shape  IAGP 8699517 HPOORPHA:401777NR2F1HumanAbnormal helix morphology  IAGP 8699517 HPOORPHA:401777NR2F1HumanAbnormal hippocampus morphology  IAGP 8699517 HPOORPHA:401777NR2F1HumanAbsent speech  IAGP 8699517 HPOORPHA:401777NR2F1HumanAmblyopia  IAGP 8699517 HPOORPHA:401777NR2F1HumanAnteverted nares  IAGP 8699517 HPOORPHA:401777NR2F1HumanAnteverted nares  IAGP 8699517 HPOOMIM:615722NR2F1HumanAttention deficit hyperactivity disorder  IAGP 8699517 HPOORPHA:401777NR2F1HumanAutism  IAGP 8699517 HPOOMIM:615722NR2F1HumanAutistic behavior  IAGP 8699517 HPOORPHA:401777NR2F1HumanAutosomal dominant inheritance  IAGP 8699517 HPOOMIM:615722NR2F1HumanCerebral visual impairment  IAGP 8699517 HPOORPHA:401777NR2F1HumanCerebral visual impairment  IAGP 8699517 HPOOMIM:615722NR2F1HumanCompulsive behaviors  IAGP 8699517 HPOORPHA:401777NR2F1HumanCompulsive behaviors  IAGP 8699517 HPOOMIM:615722NR2F1HumanDarwin tubercle of helix  IAGP 8699517 HPOOMIM:615722NR2F1HumanDelayed myelination  IAGP 8699517 HPOORPHA:401777NR2F1HumanDelayed skeletal maturation  IAGP 8699517 HPOORPHA:401777NR2F1HumanEpicanthus  IAGP 8699517 HPOORPHA:401777NR2F1HumanEpicanthus  IAGP 8699517 HPOOMIM:615722NR2F1HumanEsotropia  IAGP 8699517 HPOORPHA:401777NR2F1HumanExotropia  IAGP 8699517 HPOORPHA:401777NR2F1HumanFeeding difficulties  IAGP 8699517 HPOOMIM:615722NR2F1HumanGlobal developmental delay  IAGP 8699517 HPOOMIM:615722NR2F1HumanGlobal developmental delay  IAGP 8699517 HPOORPHA:401777NR2F1HumanHearing impairment  IAGP 8699517 HPOORPHA:401777NR2F1HumanHigh palate  IAGP 8699517 HPOOMIM:615722NR2F1HumanHypermetropia  IAGP 8699517 HPOORPHA:401777NR2F1HumanHypoplasia of the corpus callosum  IAGP 8699517 HPOORPHA:401777NR2F1HumanHypotonia  IAGP 8699517 HPOORPHA:401777NR2F1HumanHypotonia  IAGP 8699517 HPOOMIM:615722NR2F1HumanIntellectual disability  IAGP 8699517 HPOORPHA:401777NR2F1HumanIntellectual disability  IAGP 8699517 HPOOMIM:615722NR2F1HumanKeratoconus  IAGP 8699517 HPOORPHA:401777NR2F1HumanMyopia  IAGP 8699517 HPOORPHA:401777NR2F1HumanNystagmus  IAGP 8699517 HPOORPHA:401777NR2F1HumanNystagmus  IAGP 8699517 HPOOMIM:615722NR2F1HumanOptic atrophy  IAGP 8699517 HPOORPHA:401777NR2F1HumanOptic atrophy  IAGP 8699517 HPOOMIM:615722NR2F1HumanOptic disc hypoplasia  IAGP 8699517 HPOORPHA:401777NR2F1HumanOptic disc pallor  IAGP 8699517 HPOOMIM:615722NR2F1HumanOptic nerve hypoplasia  IAGP 8699517 HPOORPHA:401777NR2F1HumanPointed chin  IAGP 8699517 HPOOMIM:615722NR2F1HumanProminent antihelix  IAGP 8699517 HPOOMIM:615722NR2F1HumanProminent fingertip pads  IAGP 8699517 HPOOMIM:615722NR2F1HumanProminent nasal bridge  IAGP 8699517 HPOORPHA:401777NR2F1HumanProminent nasal bridge  IAGP 8699517 HPOOMIM:615722NR2F1HumanProtruding ear  IAGP 8699517 HPOORPHA:401777NR2F1HumanProtruding ear  IAGP 8699517 HPOOMIM:615722NR2F1HumanReduced visual acuity  IAGP 8699517 HPOORPHA:401777NR2F1HumanReduced visual acuity  IAGP 8699517 HPOOMIM:615722NR2F1HumanRepetitive compulsive behavior  IAGP 8699517 HPOORPHA:401777NR2F1HumanRetrognathia  IAGP 8699517 HPOOMIM:615722NR2F1HumanSeizure  IAGP 8699517 HPOORPHA:401777NR2F1HumanShort nasal bridge  IAGP 8699517 HPOORPHA:401777NR2F1HumanShort stature  IAGP 8699517 HPOORPHA:401777NR2F1HumanSlow-growing hair  IAGP 8699517 HPOOMIM:615722NR2F1HumanSpasticity  IAGP 8699517 HPOORPHA:401777NR2F1HumanSpasticity  IAGP 8699517 HPOOMIM:615722NR2F1HumanStrabismus  IAGP 8699517 HPOORPHA:401777NR2F1HumanStrabismus  IAGP 8699517 HPOOMIM:615722NR2F1HumanTapered finger  IAGP 8699517 HPOORPHA:401777NR2F1HumanTapered finger  IAGP 8699517 HPOOMIM:615722NR2F1HumanUplifted earlobe  IAGP 8699517 HPOOMIM:615722NR2F1HumanUpslanted palpebral fissure  IAGP 8699517 HPOORPHA:401777NR2F1HumanUpslanted palpebral fissure  IAGP 8699517 HPOOMIM:615722NR2F1HumanVisual field defect  IAGP 8699517 HPOORPHA:401777NR2F1HumanVisual field defect  IAGP 8699517 HPOOMIM:615722NR2F1HumanWide mouth  IAGP 8699517 HPOOMIM:615722

Imported Human Phenotype Annotations - ClinVar

Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)NR2F1HumanAutistic behavior  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autism spectrum disorderClinVarPMID:25741868NR2F1HumanGlobal developmental delay  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:25741868NR2F1HumanNeurodevelopmental delay  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental delayClinVarPMID:25741868NR2F1HumanNeurodevelopmental delay  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental delayClinVarPMID:25741868NR2F1HumanSeizure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SeizureClinVar 
Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antimycin A  (EXP)
arachidonic acid  (EXP)
arotinoid acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[ghi]perylene  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bucladesine  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
CHIR 99021  (EXP)
chlordecone  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
diallyl trisulfide  (EXP)
dichlorine  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenpyroximate  (EXP)
fructose  (EXP)
geraniol  (EXP)
glucose  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
isotretinoin  (EXP)
ketoconazole  (EXP)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
oxaliplatin  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
testosterone  (EXP,ISO)
thapsigargin  (EXP)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
triacsin C  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1311101   PMID:1331778   PMID:1517211   PMID:2739739   PMID:2905047   PMID:8530078   PMID:8551580   PMID:8622679   PMID:8798567   PMID:9388268   PMID:9395481   PMID:10207062  
PMID:10620335   PMID:10644726   PMID:10644740   PMID:10652338   PMID:10656770   PMID:10744719   PMID:11043578   PMID:11368516   PMID:11811951   PMID:11934895   PMID:12093745   PMID:12130562  
PMID:12477932   PMID:12551987   PMID:12972613   PMID:15140878   PMID:15157742   PMID:15489334   PMID:15604093   PMID:16219912   PMID:17009409   PMID:17674191   PMID:18199540   PMID:19112178  
PMID:19274049   PMID:19322201   PMID:19460752   PMID:19505873   PMID:19526345   PMID:19578876   PMID:20007910   PMID:20111703   PMID:20306291   PMID:21873635   PMID:21900206   PMID:22357705  
PMID:22952844   PMID:23300014   PMID:23975195   PMID:24462372   PMID:24906407   PMID:25609649   PMID:25787832   PMID:26186194   PMID:26760575   PMID:26986877   PMID:27609421   PMID:28473536  
PMID:28514442   PMID:28922831   PMID:28963436   PMID:29150431   PMID:29365100   PMID:29844126   PMID:30322396   PMID:30445268   PMID:30804502   PMID:31073040   PMID:31091453   PMID:31357956  
PMID:31435636   PMID:31530388   PMID:31729143   PMID:31913971   PMID:31994002   PMID:32275123   PMID:32484994   PMID:32712214   PMID:33661352   PMID:33961781   PMID:34475402   PMID:34686322  
PMID:34738863   PMID:34812843   PMID:34837429   PMID:35462433   PMID:35471456   PMID:35509820   PMID:35818636   PMID:35936005   PMID:36508512   PMID:38010976   PMID:38499532  


Genomics

Comparative Map Data
NR2F1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38593,583,222 - 93,594,611 (+)NCBIGRCh38GRCh38hg38GRCh38GRCh38.p14 Ensembl593,583,222 - 93,594,611 (+)EnsemblGRCh38hg38GRCh38GRCh37592,918,928 - 92,930,317 (+)NCBIGRCh37GRCh37hg19GRCh37Build 36592,944,799 - 92,955,544 (+)NCBINCBI36Build 36hg18NCBI36Build 34592,944,798 - 92,955,540NCBICelera588,778,440 - 88,789,186 (+)NCBICeleraCytogenetic Map5q15NCBIHuRef588,092,169 - 88,102,739 (+)NCBIHuRefCHM1_1592,351,749 - 92,362,489 (+)NCBICHM1_1T2T-CHM13v2.0594,067,283 - 94,078,673 (+)NCBIT2T-CHM13v2.0
Nr2f1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391378,337,090 - 78,346,954 (-)NCBIGRCm39GRCm39mm39GRCm39 Ensembl1378,337,092 - 78,347,876 (-)EnsemblGRCm39 EnsemblGRCm381378,188,971 - 78,198,873 (-)NCBIGRCm38GRCm38mm10GRCm38GRCm38.p6 Ensembl1378,188,973 - 78,199,757 (-)EnsemblGRCm38mm10GRCm38MGSCv371378,328,234 - 78,338,243 (-)NCBIGRCm37MGSCv37mm9NCBIm37MGSCv361378,652,524 - 78,662,420 (-)NCBIMGSCv36mm8Celera1380,475,542 - 80,485,460 (-)NCBICeleraCytogenetic Map13C1NCBIcM Map1341.38NCBI
Nr2f1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr829,776,179 - 9,785,924 (-)NCBIGRCr8mRatBN7.228,040,375 - 8,050,123 (-)NCBImRatBN7.2mRatBN7.2mRatBN7.2 Ensembl28,040,377 - 8,050,123 (-)EnsemblmRatBN7.2 EnsemblUTH_Rnor_SHR_Utx215,156,212 - 15,165,958 (-)NCBIRnor_SHRUTH_Rnor_SHR_UtxUTH_Rnor_SHRSP_BbbUtx_1.0213,255,522 - 13,265,268 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_WKY_Bbb_1.027,905,787 - 7,915,533 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0Rnor_6.025,569,954 - 5,579,894 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0Rnor_6.0 Ensembl25,569,935 - 5,579,894 (-)EnsemblRnor6.0rn6Rnor6.0Rnor_5.025,553,211 - 5,563,152 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0RGSC_v3.425,765,399 - 5,794,104 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4RGSC_v3.125,791,963 - 5,820,665 (-)NCBICelera24,489,100 - 4,498,590 (-)NCBICeleraCytogenetic Map2q11NCBI
Nr2f1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541818,614,995 - 18,624,584 (-)EnsemblChiLan1.0ChiLan1.0NW_00495541818,615,548 - 18,622,984 (-)NCBIChiLan1.0ChiLan1.0
NR2F1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2421,798,293 - 21,808,047 (-)NCBINHGRI_mPanPan1-v2NHGRI_mPanPan1519,951,902 - 19,964,301 (-)NCBINHGRI_mPanPan1Mhudiblu_PPA_v0521,773,283 - 21,785,746 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3PanPan1.1521,909,691 - 21,918,776 (-)NCBIpanpan1.1PanPan1.1panPan2PanPan1.1 Ensembl521,910,463 - 21,918,776 (-)Ensemblpanpan1.1panPan2
NR2F1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1315,707,198 - 15,716,875 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1CanFam3.1 Ensembl315,707,640 - 15,716,875 (-)EnsemblCanFam3.1canFam3CanFam3.1Dog10K_Boxer_Tasha317,056,142 - 17,065,912 (-)NCBIDog10K_Boxer_TashaROS_Cfam_1.0315,603,857 - 15,613,637 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0 Ensembl315,603,875 - 15,613,542 (-)EnsemblROS_Cfam_1.0 EnsemblUMICH_Zoey_3.1315,559,980 - 15,569,747 (-)NCBIUMICH_Zoey_3.1UNSW_CanFamBas_1.0315,546,214 - 15,555,980 (-)NCBIUNSW_CanFamBas_1.0UU_Cfam_GSD_1.0315,764,483 - 15,774,264 (-)NCBIUU_Cfam_GSD_1.0
Nr2f1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213171,322,457 - 171,331,829 (-)NCBIHiC_Itri_2SpeTri2.0 EnsemblNW_0049365239,507,965 - 9,517,272 (-)EnsemblSpeTri2.0SpeTri2.0 EnsemblSpeTri2.0NW_0049365239,508,204 - 9,517,266 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NR2F1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2100,447,705 - 100,457,506 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1Sscrofa11.12100,447,661 - 100,457,510 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1Sscrofa10.22103,839,017 - 103,848,870 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NR2F1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1487,463,514 - 87,475,900 (+)NCBIChlSab1.1ChlSab1.1chlSab2ChlSab1.1 Ensembl487,466,249 - 87,475,112 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2Vero_WHO_p1.0NW_02366604936,657,859 - 36,670,290 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nr2f1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474312,478,832 - 12,488,458 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2HetGla 1.0NW_00462474312,479,427 - 12,488,178 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2
Variants

.
Variants in NR2F1
296 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) single nucleotide variant Global developmental delay [RCV000735394] Chr5:93585288 [GRCh38]
Chr5:92920994 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114388] Chr5:93585362 [GRCh38]
Chr5:92921068 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) indel Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000656396] Chr5:93588182..93588183 [GRCh38]
Chr5:92923888..92923889 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.665T>C (p.Leu222Pro) single nucleotide variant not provided [RCV003321210] Chr5:93588118 [GRCh38]
Chr5:92923824 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001249826]|not provided [RCV000519537] Chr5:93585336 [GRCh38]
Chr5:92921042 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.290A>C (p.His97Pro) single nucleotide variant not provided [RCV000519522] Chr5:93585313 [GRCh38]
Chr5:92921019 [GRCh37]
Chr5:5q15		 pathogenic|uncertain significance
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114387] Chr5:93585367 [GRCh38]
Chr5:92921073 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114389] Chr5:93588208 [GRCh38]
Chr5:92923914 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114390] Chr5:93585358 [GRCh38]
Chr5:92921064 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 copy number gain See cases [RCV000053285] Chr5:93405010..97716265 [GRCh38]
Chr5:92740716..97051969 [GRCh37]
Chr5:92766472..97077725 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1 copy number loss See cases [RCV000053480] Chr5:88936770..94102018 [GRCh38]
Chr5:88232587..93437723 [GRCh37]
Chr5:88268343..93463479 [NCBI36]
Chr5:5q14.3-15		 pathogenic
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 copy number loss See cases [RCV000053519] Chr5:91386552..98365880 [GRCh38]
Chr5:90682369..97701584 [GRCh37]
Chr5:90718125..97729488 [NCBI36]
Chr5:5q14.3-15		 pathogenic
GRCh38/hg38 5q15(chr5:93078983-95529159)x1 copy number loss See cases [RCV000053521] Chr5:93078983..95529159 [GRCh38]
Chr5:92414689..94864863 [GRCh37]
Chr5:92440445..94890619 [NCBI36]
Chr5:5q15		 pathogenic
GRCh37/hg19 5q15(chr5:92919336-92925582)x4 copy number gain See cases [RCV000184082] Chr5:92919336..92925582 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1		 pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1 copy number loss See cases [RCV000140706] Chr5:92031269..93947338 [GRCh38]
Chr5:91327086..93283043 [GRCh37]
Chr5:91362842..93308799 [NCBI36]
Chr5:5q14.3-15		 likely pathogenic|uncertain significance
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000200428] Chr5:93585405 [GRCh38]
Chr5:92921111 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.262G>A (p.Val88Met) single nucleotide variant not provided [RCV000255287] Chr5:93585285 [GRCh38]
Chr5:92920991 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.417A>T (p.Gln139His) single nucleotide variant not provided [RCV000275857] Chr5:93585440 [GRCh38]
Chr5:92921146 [GRCh37]
Chr5:5q15		 pathogenic
Single allele deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000203289] Chr5:92845157..93679748 [GRCh37]
Chr5:5q15		 likely pathogenic
Single allele deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000203294] Chr5:91064110..93896378 [GRCh37]
Chr5:5q14.3-15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.165G>C (p.Pro55=) single nucleotide variant not provided [RCV001707816] Chr5:93585188 [GRCh38]
Chr5:92920894 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.666G>A (p.Leu222=) single nucleotide variant not provided [RCV002066629]|not specified [RCV000606502] Chr5:93588119 [GRCh38]
Chr5:92923825 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.424C>T (p.Arg142Cys) single nucleotide variant not provided [RCV000298774] Chr5:93585447 [GRCh38]
Chr5:92921153 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353108]|Inborn genetic diseases [RCV002518806]|not provided [RCV000334239] Chr5:93585025 [GRCh38]
Chr5:92920731 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.69C>T (p.Pro23=) single nucleotide variant not provided [RCV000522625] Chr5:93585092 [GRCh38]
Chr5:92920798 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.459G>T (p.Arg153=) single nucleotide variant not provided [RCV000578574] Chr5:93585482 [GRCh38]
Chr5:92921188 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.278C>A (p.Ser93Ter) single nucleotide variant not provided [RCV000488146] Chr5:93585301 [GRCh38]
Chr5:92921007 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.505G>A (p.Gly169Ser) single nucleotide variant not provided [RCV000488974] Chr5:93587958 [GRCh38]
Chr5:92923664 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.939C>T (p.His313=) single nucleotide variant not specified [RCV000605340] Chr5:93588392 [GRCh38]
Chr5:92924098 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) single nucleotide variant Inborn genetic diseases [RCV000623144] Chr5:93585448 [GRCh38]
Chr5:92921154 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.314G>A (p.Gly105Asp) single nucleotide variant not provided [RCV000523726] Chr5:93585337 [GRCh38]
Chr5:92921043 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.558C>T (p.Ser186=) single nucleotide variant not provided [RCV002531620]|not specified [RCV000603404] Chr5:93588011 [GRCh38]
Chr5:92923717 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1149C>T (p.Ser383=) single nucleotide variant not provided [RCV003767501]|not specified [RCV000603165] Chr5:93593719 [GRCh38]
Chr5:92929425 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.183C>T (p.Pro61=) single nucleotide variant not provided [RCV001552304]|not specified [RCV000413677] Chr5:93585206 [GRCh38]
Chr5:92920912 [GRCh37]
Chr5:5q15		 likely benign|no classifications from unflagged records
NM_005654.6(NR2F1):c.1134C>A (p.Arg378=) single nucleotide variant not provided [RCV000922007]|not specified [RCV000417465] Chr5:93593704 [GRCh38]
Chr5:92929410 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.192C>T (p.Pro64=) single nucleotide variant not provided [RCV001698271] Chr5:93585215 [GRCh38]
Chr5:92920921 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.1248T>A (p.Pro416=) single nucleotide variant not specified [RCV000424138] Chr5:93593818 [GRCh38]
Chr5:92929524 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.60C>G (p.Pro20=) single nucleotide variant not provided [RCV002521645]|not specified [RCV000431353] Chr5:93585083 [GRCh38]
Chr5:92920789 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.-33C>T single nucleotide variant not specified [RCV000434830] Chr5:93584991 [GRCh38]
Chr5:92920697 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.153G>A (p.Thr51=) single nucleotide variant not provided [RCV002525398]|not specified [RCV000442163] Chr5:93585176 [GRCh38]
Chr5:92920882 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_005654.6(NR2F1):c.1197C>T (p.Ile399=) single nucleotide variant not provided [RCV001697835] Chr5:93593767 [GRCh38]
Chr5:92929473 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.226G>A (p.Gly76Ser) single nucleotide variant not provided [RCV000421900] Chr5:93585249 [GRCh38]
Chr5:92920955 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.162C>A (p.Thr54=) single nucleotide variant not provided [RCV000712442]|not specified [RCV000425536] Chr5:93585185 [GRCh38]
Chr5:92920891 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000505414] Chr5:93593685 [GRCh38]
Chr5:92929391 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000505484] Chr5:93585280 [GRCh38]
Chr5:92920986 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.992-16G>A single nucleotide variant not provided [RCV002063605]|not specified [RCV000422995] Chr5:93593546 [GRCh38]
Chr5:92929252 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.*9C>T single nucleotide variant not provided [RCV000712441] Chr5:93593851 [GRCh38]
Chr5:92929557 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.365G>C (p.Cys122Ser) single nucleotide variant not provided [RCV000439198] Chr5:93585388 [GRCh38]
Chr5:92921094 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.531C>T (p.Asp177=) single nucleotide variant not specified [RCV000420540] Chr5:93587984 [GRCh38]
Chr5:92923690 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.463+5A>G single nucleotide variant NR2F1-related disorder [RCV003912675]|not provided [RCV001703729] Chr5:93585491 [GRCh38]
Chr5:92921197 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000416416] Chr5:93585436 [GRCh38]
Chr5:92921142 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000477887] Chr5:93593787 [GRCh38]
Chr5:92929493 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1050C>A (p.Cys350Ter) single nucleotide variant not provided [RCV000483410] Chr5:93593620 [GRCh38]
Chr5:92929326 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000484839] Chr5:93585024 [GRCh38]
Chr5:92920730 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1165TTC[1] (p.Phe390del) microsatellite not provided [RCV000478365] Chr5:93593733..93593735 [GRCh38]
Chr5:92929439..92929441 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.323G>T (p.Ser108Ile) single nucleotide variant not provided [RCV000497695] Chr5:93585346 [GRCh38]
Chr5:92921052 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr) single nucleotide variant Inborn genetic diseases [RCV001266705]|not provided [RCV000494334] Chr5:93585340 [GRCh38]
Chr5:92921046 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_005654.6(NR2F1):c.211G>A (p.Gly71Ser) single nucleotide variant not provided [RCV000494526] Chr5:93585234 [GRCh38]
Chr5:92920940 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_005654.6(NR2F1):c.1170C>G (p.Phe390Leu) single nucleotide variant not provided [RCV000519630] Chr5:93593740 [GRCh38]
Chr5:92929446 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677703]|Inborn genetic diseases [RCV000624896]|not provided [RCV002285376] Chr5:93585448 [GRCh38]
Chr5:92921154 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.991+19G>A single nucleotide variant not specified [RCV000616595] Chr5:93588463 [GRCh38]
Chr5:92924169 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.903C>A (p.Ile301=) single nucleotide variant not provided [RCV000945875] Chr5:93588356 [GRCh38]
Chr5:92924062 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+12del deletion not provided [RCV002065266]|not specified [RCV000616749] Chr5:93588455 [GRCh38]
Chr5:92924161 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+10C>A single nucleotide variant not provided [RCV002529749]|not specified [RCV000608348] Chr5:93588454 [GRCh38]
Chr5:92924160 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.276G>A (p.Lys92=) single nucleotide variant not provided [RCV000924182]|not specified [RCV000616949] Chr5:93585299 [GRCh38]
Chr5:92921005 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.162C>T (p.Thr54=) single nucleotide variant not specified [RCV000600991] Chr5:93585185 [GRCh38]
Chr5:92920891 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.807G>A (p.Met269Ile) single nucleotide variant not provided [RCV003314908] Chr5:93588260 [GRCh38]
Chr5:92923966 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.708C>T (p.Asn236=) single nucleotide variant not provided [RCV001712653] Chr5:93588161 [GRCh38]
Chr5:92923867 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup) duplication Inborn genetic diseases [RCV002529373]|not provided [RCV001370383] Chr5:93585127..93585128 [GRCh38]
Chr5:92920833..92920834 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.540C>T (p.Asn180=) single nucleotide variant NR2F1-related disorder [RCV003980148]|not provided [RCV001722660] Chr5:93587993 [GRCh38]
Chr5:92923699 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.92GCG[7] (p.Gly36dup) microsatellite not provided [RCV000658342] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677401] Chr5:93585426 [GRCh38]
Chr5:92921132 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.172C>A (p.Pro58Thr) single nucleotide variant not provided [RCV000658212] Chr5:93585195 [GRCh38]
Chr5:92920901 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 copy number loss not provided [RCV000682580] Chr5:91504101..104858348 [GRCh37]
Chr5:5q14.3-21.3		 pathogenic
NM_005654.6(NR2F1):c.289C>G (p.His97Asp) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677407] Chr5:93585312 [GRCh38]
Chr5:92921018 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q14.3-15(chr5:90664386-93537229)x3 copy number gain not provided [RCV000682579] Chr5:90664386..93537229 [GRCh37]
Chr5:5q14.3-15		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)x1 copy number loss not provided [RCV000744913] Chr5:87512314..95096562 [GRCh37]
Chr5:5q14.3-15		 pathogenic
GRCh37/hg19 5q15(chr5:92920195-92929852)x1 copy number loss not provided [RCV000744937] Chr5:92920195..92929852 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.-1588T>C single nucleotide variant not provided [RCV001565132] Chr5:93583436 [GRCh38]
Chr5:92919142 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.239G>T (p.Ser80Ile) single nucleotide variant not provided [RCV000762150] Chr5:93585262 [GRCh38]
Chr5:92920968 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001199035]|not provided [RCV000762151] Chr5:93593635 [GRCh38]
Chr5:92929341 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.353T>G (p.Leu118Ter) single nucleotide variant not provided [RCV000760776] Chr5:93585376 [GRCh38]
Chr5:92921082 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1174C>T (p.Arg392Cys) single nucleotide variant not provided [RCV001585457] Chr5:93593744 [GRCh38]
Chr5:92929450 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002287503]|not provided [RCV001578261] Chr5:93593594 [GRCh38]
Chr5:92929300 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.288G>A (p.Lys96=) single nucleotide variant not provided [RCV000923016] Chr5:93585311 [GRCh38]
Chr5:92921017 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1060G>A (p.Glu354Lys) single nucleotide variant not provided [RCV003312627] Chr5:93593630 [GRCh38]
Chr5:92929336 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1219T>C (p.Leu407=) single nucleotide variant not provided [RCV000983666] Chr5:93593789 [GRCh38]
Chr5:92929495 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003314114] Chr5:93585305 [GRCh38]
Chr5:92921011 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.987G>A (p.Thr329=) single nucleotide variant not provided [RCV000916173] Chr5:93588440 [GRCh38]
Chr5:92924146 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.354_357del (p.Leu118fs) deletion not provided [RCV000998409] Chr5:93585376..93585379 [GRCh38]
Chr5:92921082..92921085 [GRCh37]
Chr5:5q15		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_005654.6(NR2F1):c.237G>C (p.Gln79His) single nucleotide variant not provided [RCV000836217] Chr5:93585260 [GRCh38]
Chr5:92920966 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000824861] Chr5:93585107..93585116 [GRCh38]
Chr5:92920813..92920822 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000824821] Chr5:93585312 [GRCh38]
Chr5:92921018 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV000841311] Chr5:93585071 [GRCh38]
Chr5:92920777 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.-187G>A single nucleotide variant not provided [RCV000835781] Chr5:93584837 [GRCh38]
Chr5:92920543 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000985203] Chr5:93593687 [GRCh38]
Chr5:92929393 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
GRCh37/hg19 5q15(chr5:92618672-93196696)x1 copy number loss not provided [RCV001005701] Chr5:92618672..93196696 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001004747] Chr5:93585475 [GRCh38]
Chr5:92921181 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q15(chr5:92386982-94865113)x1 copy number loss not provided [RCV000847387] Chr5:92386982..94865113 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001198789] Chr5:93585192 [GRCh38]
Chr5:92920898 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala) single nucleotide variant Autism spectrum disorder [RCV003127332] Chr5:93593754 [GRCh38]
Chr5:92929460 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.601T>A (p.Ser201Thr) single nucleotide variant not provided [RCV001550396] Chr5:93588054 [GRCh38]
Chr5:92923760 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.72C>A (p.Asn24Lys) single nucleotide variant not provided [RCV001574750] Chr5:93585095 [GRCh38]
Chr5:92920801 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.359dup (p.Tyr120Ter) duplication not provided [RCV001557484] Chr5:93585381..93585382 [GRCh38]
Chr5:92921087..92921088 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.66C>T (p.Gly22=) single nucleotide variant not provided [RCV001584961] Chr5:93585089 [GRCh38]
Chr5:92920795 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1170C>T (p.Phe390=) single nucleotide variant not provided [RCV000929871] Chr5:93593740 [GRCh38]
Chr5:92929446 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.810G>A (p.Pro270=) single nucleotide variant not provided [RCV000932811] Chr5:93588263 [GRCh38]
Chr5:92923969 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.40G>T (p.Asp14Tyr) single nucleotide variant Inborn genetic diseases [RCV004028298]|not provided [RCV000880785] Chr5:93585063 [GRCh38]
Chr5:92920769 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_005654.6(NR2F1):c.1014G>A (p.Ala338=) single nucleotide variant not provided [RCV001732567] Chr5:93593584 [GRCh38]
Chr5:92929290 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1008G>A (p.Ser336=) single nucleotide variant not provided [RCV001570767] Chr5:93593578 [GRCh38]
Chr5:92929284 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.20G>A (p.Ser7Asn) single nucleotide variant not provided [RCV001552700] Chr5:93585043 [GRCh38]
Chr5:92920749 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.463+99C>G single nucleotide variant not provided [RCV001596530] Chr5:93585585 [GRCh38]
Chr5:92921291 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
NM_005654.6(NR2F1):c.189C>T (p.Thr63=) single nucleotide variant not provided [RCV001653056] Chr5:93585212 [GRCh38]
Chr5:92920918 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.*50C>T single nucleotide variant not provided [RCV001719484] Chr5:93593892 [GRCh38]
Chr5:92929598 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.801C>T (p.Cys267=) single nucleotide variant not provided [RCV001593516] Chr5:93588254 [GRCh38]
Chr5:92923960 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.756A>G (p.Leu252=) single nucleotide variant not provided [RCV001653153] Chr5:93588209 [GRCh38]
Chr5:92923915 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.323G>A (p.Ser108Asn) single nucleotide variant Neurodevelopmental delay [RCV002274359] Chr5:93585346 [GRCh38]
Chr5:92921052 [GRCh37]
Chr5:5q15		 likely pathogenic|likely benign
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001192937] Chr5:93585279 [GRCh38]
Chr5:92920985 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 copy number gain See cases [RCV001007415] Chr5:87792844..109221844 [GRCh37]
Chr5:5q14.3-21.3		 likely pathogenic
NM_005654.6(NR2F1):c.*10G>A single nucleotide variant NR2F1-related disorder [RCV003976019]|not provided [RCV001696071] Chr5:93593852 [GRCh38]
Chr5:92929558 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.464-43C>T single nucleotide variant not provided [RCV001609869] Chr5:93587874 [GRCh38]
Chr5:92923580 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.-1751CT[11] microsatellite not provided [RCV001545567] Chr5:93583272..93583273 [GRCh38]
Chr5:92918978..92918979 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.120del (p.Gln40fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001196876] Chr5:93585143 [GRCh38]
Chr5:92920849 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001027649] Chr5:93585476 [GRCh38]
Chr5:92921182 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.463+1G>A single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001196236] Chr5:93585487 [GRCh38]
Chr5:92921193 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.968_969del (p.Lys323fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001027693] Chr5:93588420..93588421 [GRCh38]
Chr5:92924126..92924127 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001253606] Chr5:93588436..93588440 [GRCh38]
Chr5:92924142..92924146 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001253426] Chr5:93585460 [GRCh38]
Chr5:92921166 [GRCh37]
Chr5:5q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001254042] Chr5:93585350 [GRCh38]
Chr5:92921056 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001265635]|not provided [RCV003698856] Chr5:93593667 [GRCh38]
Chr5:92929373 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.111C>G (p.Ala37=) single nucleotide variant not provided [RCV001545710] Chr5:93585134 [GRCh38]
Chr5:92920840 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.667_668insTCGCGCGCTGG (p.Ala223fs) insertion not provided [RCV001268194] Chr5:93588115..93588116 [GRCh38]
Chr5:92923821..92923822 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup) duplication Inborn genetic diseases [RCV001266279] Chr5:93588132..93588133 [GRCh38]
Chr5:92923838..92923839 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.210G>C (p.Lys70Asn) single nucleotide variant not provided [RCV002284942] Chr5:93585233 [GRCh38]
Chr5:92920939 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.464-11_464-8del microsatellite not provided [RCV001539334] Chr5:93587901..93587904 [GRCh38]
Chr5:92923607..92923610 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353111] Chr5:93585105 [GRCh38]
Chr5:92920811 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353110] Chr5:93587966 [GRCh38]
Chr5:92923672 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.533C>T (p.Pro178Leu) single nucleotide variant not provided [RCV001322812] Chr5:93587986 [GRCh38]
Chr5:92923692 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001270370] Chr5:93585475 [GRCh38]
Chr5:92921181 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353109] Chr5:93585309 [GRCh38]
Chr5:92921015 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1241A>G (p.Asn414Ser) single nucleotide variant not provided [RCV001347274] Chr5:93593811 [GRCh38]
Chr5:92929517 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1083del (p.Asn362fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353112]|not provided [RCV003238356] Chr5:93593650 [GRCh38]
Chr5:92929356 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) single nucleotide variant See cases [RCV001420226]|not provided [RCV001762676] Chr5:93585343 [GRCh38]
Chr5:92921049 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.993C>T (p.Asp331=) single nucleotide variant not provided [RCV001517465] Chr5:93593563 [GRCh38]
Chr5:92929269 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.953A>G (p.Glu318Gly) single nucleotide variant not provided [RCV001379597] Chr5:93588406 [GRCh38]
Chr5:92924112 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.765C>G (p.Thr255=) single nucleotide variant not provided [RCV001400041] Chr5:93588218 [GRCh38]
Chr5:92923924 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1044G>A (p.Ser348=) single nucleotide variant not provided [RCV001572361] Chr5:93593614 [GRCh38]
Chr5:92929320 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1023C>T (p.Ile341=) single nucleotide variant not provided [RCV001589637] Chr5:93593593 [GRCh38]
Chr5:92929299 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.150C>G (p.His50Gln) single nucleotide variant not provided [RCV002244393] Chr5:93585173 [GRCh38]
Chr5:92920879 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775376] Chr5:93585231..93585234 [GRCh38]
Chr5:92920937..92920940 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002273331] Chr5:93588280 [GRCh38]
Chr5:92923986 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.755T>A (p.Leu252Gln) single nucleotide variant not provided [RCV001763494] Chr5:93588208 [GRCh38]
Chr5:92923914 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.916G>A (p.Val306Met) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001779380] Chr5:93588369 [GRCh38]
Chr5:92924075 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.218G>A (p.Gly73Asp) single nucleotide variant not provided [RCV001762985] Chr5:93585241 [GRCh38]
Chr5:92920947 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775448] Chr5:93587950 [GRCh38]
Chr5:92923656 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.74C>G (p.Pro25Arg) single nucleotide variant not provided [RCV001771309] Chr5:93585097 [GRCh38]
Chr5:92920803 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003985104]|not provided [RCV001732931] Chr5:93585333 [GRCh38]
Chr5:92921039 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.1016C>A (p.Ala339Asp) single nucleotide variant not provided [RCV001767681] Chr5:93593586 [GRCh38]
Chr5:92929292 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.854C>T (p.Ser285Leu) single nucleotide variant not provided [RCV001772556] Chr5:93588307 [GRCh38]
Chr5:92924013 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001754557] Chr5:93585315 [GRCh38]
Chr5:92921021 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775352] Chr5:93585267 [GRCh38]
Chr5:92920973 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1118G>A (p.Arg373Gln) single nucleotide variant not provided [RCV001752781] Chr5:93593688 [GRCh38]
Chr5:92929394 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1207_1209del (p.Ile403del) deletion not provided [RCV001760743] Chr5:93593775..93593777 [GRCh38]
Chr5:92929481..92929483 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.101G>T (p.Gly34Val) single nucleotide variant not provided [RCV001761078] Chr5:93585124 [GRCh38]
Chr5:92920830 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.328T>C (p.Phe110Leu) single nucleotide variant not provided [RCV001816396] Chr5:93585351 [GRCh38]
Chr5:92921057 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1096C>A (p.Arg366Ser) single nucleotide variant not provided [RCV001763473] Chr5:93593666 [GRCh38]
Chr5:92929372 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.429C>T (p.Leu143=) single nucleotide variant not provided [RCV001815942] Chr5:93585452 [GRCh38]
Chr5:92921158 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.547T>A (p.Cys183Ser) single nucleotide variant not provided [RCV001757133] Chr5:93588000 [GRCh38]
Chr5:92923706 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1212C>T (p.Arg404=) single nucleotide variant not provided [RCV001869719]|not specified [RCV001820365] Chr5:93593782 [GRCh38]
Chr5:92929488 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.351C>A (p.Asn117Lys) single nucleotide variant not provided [RCV001964370] Chr5:93585374 [GRCh38]
Chr5:92921080 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.114C>T (p.Gly38=) single nucleotide variant not provided [RCV001874451] Chr5:93585137 [GRCh38]
Chr5:92920843 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.197C>T (p.Thr66Met) single nucleotide variant not provided [RCV002005534] Chr5:93585220 [GRCh38]
Chr5:92920926 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001823039] Chr5:93585354 [GRCh38]
Chr5:92921060 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.859A>T (p.Met287Leu) single nucleotide variant not provided [RCV001884276] Chr5:93588312 [GRCh38]
Chr5:92924018 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.632ACA[1] (p.Asn212del) microsatellite not provided [RCV001996750] Chr5:93588083..93588085 [GRCh38]
Chr5:92923789..92923791 [GRCh37]
Chr5:5q15		 uncertain significance
NC_000005.9:g.(?_92920730)_(92929548_?)del deletion not provided [RCV001963232] Chr5:92920730..92929548 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.255G>C (p.Glu85Asp) single nucleotide variant not provided [RCV001995075] Chr5:93585278 [GRCh38]
Chr5:92920984 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.886A>G (p.Met296Val) single nucleotide variant not provided [RCV001957895] Chr5:93588339 [GRCh38]
Chr5:92924045 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.597dup (p.Thr200fs) duplication not provided [RCV001993227] Chr5:93588046..93588047 [GRCh38]
Chr5:92923752..92923753 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1171del (p.Val391fs) deletion not provided [RCV002036697] Chr5:93593741 [GRCh38]
Chr5:92929447 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1013C>T (p.Ala338Val) single nucleotide variant not provided [RCV001989017] Chr5:93593583 [GRCh38]
Chr5:92929289 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.931G>A (p.Ala311Thr) single nucleotide variant not provided [RCV001999123] Chr5:93588384 [GRCh38]
Chr5:92924090 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[3] (p.Gly34_Gly36del) microsatellite not provided [RCV002010137] Chr5:93585115..93585123 [GRCh38]
Chr5:92920821..92920829 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.32C>T (p.Pro11Leu) single nucleotide variant not provided [RCV001917336] Chr5:93585055 [GRCh38]
Chr5:92920761 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.131C>T (p.Ala44Val) single nucleotide variant not provided [RCV002031483] Chr5:93585154 [GRCh38]
Chr5:92920860 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[9] (p.Gly34_Gly36dup) microsatellite not provided [RCV001957802] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV001915799] Chr5:93585216 [GRCh38]
Chr5:92920922 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.107_115dup (p.Gly36_Gly38dup) duplication not provided [RCV001976222] Chr5:93585124..93585125 [GRCh38]
Chr5:92920830..92920831 [GRCh37]
Chr5:5q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.834C>T (p.Ala278=) single nucleotide variant not provided [RCV002128574] Chr5:93588287 [GRCh38]
Chr5:92923993 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.231G>C (p.Ser77=) single nucleotide variant not provided [RCV002107657] Chr5:93585254 [GRCh38]
Chr5:92920960 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.519C>T (p.Leu173=) single nucleotide variant not provided [RCV002167161] Chr5:93587972 [GRCh38]
Chr5:92923678 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.891C>T (p.Asp297=) single nucleotide variant not provided [RCV002190797] Chr5:93588344 [GRCh38]
Chr5:92924050 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.464-19C>T single nucleotide variant not provided [RCV002148450] Chr5:93587898 [GRCh38]
Chr5:92923604 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.414C>T (p.Cys138=) single nucleotide variant not provided [RCV002216159] Chr5:93585437 [GRCh38]
Chr5:92921143 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.174C>A (p.Pro58=) single nucleotide variant not provided [RCV002216326] Chr5:93585197 [GRCh38]
Chr5:92920903 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.204G>A (p.Gly68=) single nucleotide variant not provided [RCV002116941] Chr5:93585227 [GRCh38]
Chr5:92920933 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.741C>T (p.Asp247=) single nucleotide variant not provided [RCV002094671] Chr5:93588194 [GRCh38]
Chr5:92923900 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.681C>T (p.Leu227=) single nucleotide variant not provided [RCV002214946] Chr5:93588134 [GRCh38]
Chr5:92923840 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.63C>A (p.Gly21=) single nucleotide variant not provided [RCV002187909] Chr5:93585086 [GRCh38]
Chr5:92920792 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.376A>C (p.Arg126=) single nucleotide variant not provided [RCV002141713] Chr5:93585399 [GRCh38]
Chr5:92921105 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1050C>T (p.Cys350=) single nucleotide variant not provided [RCV002120290] Chr5:93593620 [GRCh38]
Chr5:92929326 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002249111] Chr5:93593751 [GRCh38]
Chr5:92929457 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.279G>T (p.Ser93=) single nucleotide variant not provided [RCV002163615] Chr5:93585302 [GRCh38]
Chr5:92921008 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.867C>T (p.Ala289=) single nucleotide variant not provided [RCV002082043] Chr5:93588320 [GRCh38]
Chr5:92924026 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.811C>T (p.Leu271=) single nucleotide variant not provided [RCV002138142] Chr5:93588264 [GRCh38]
Chr5:92923970 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.351C>T (p.Asn117=) single nucleotide variant not provided [RCV002081596] Chr5:93585374 [GRCh38]
Chr5:92921080 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.465G>T (p.Ala155=) single nucleotide variant not provided [RCV002140630] Chr5:93587918 [GRCh38]
Chr5:92923624 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.57C>T (p.Asn19=) single nucleotide variant not provided [RCV002203611] Chr5:93585080 [GRCh38]
Chr5:92920786 [GRCh37]
Chr5:5q15		 likely benign
NC_000005.9:g.(?_92920730)_(92929548_?)dup duplication not provided [RCV003116410] Chr5:92920730..92929548 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003148230] Chr5:93585289 [GRCh38]
Chr5:92920995 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.73C>G (p.Pro25Ala) single nucleotide variant not provided [RCV002248279] Chr5:93585096 [GRCh38]
Chr5:92920802 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.471G>T (p.Gln157His) single nucleotide variant not provided [RCV003129184] Chr5:93587924 [GRCh38]
Chr5:92923630 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu) single nucleotide variant Neurodevelopmental delay [RCV002274360] Chr5:93588157 [GRCh38]
Chr5:92923863 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu) single nucleotide variant Seizure [RCV002275466] Chr5:93585301 [GRCh38]
Chr5:92921007 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.335G>C (p.Arg112Thr) single nucleotide variant not provided [RCV002293121] Chr5:93585358 [GRCh38]
Chr5:92921064 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV002274628] Chr5:93585024 [GRCh38]
Chr5:92920730 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.391G>A (p.Asp131Asn) single nucleotide variant not provided [RCV002263385] Chr5:93585414 [GRCh38]
Chr5:92921120 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.952G>T (p.Glu318Ter) single nucleotide variant not provided [RCV002263386] Chr5:93588405 [GRCh38]
Chr5:92924111 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.427_429delinsTT (p.Lys144fs) indel not provided [RCV002276132] Chr5:93585450..93585452 [GRCh38]
Chr5:92921156..92921158 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu) single nucleotide variant not specified [RCV002285201] Chr5:93585342 [GRCh38]
Chr5:92921048 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.-1761A>G single nucleotide variant not provided [RCV002281245] Chr5:93583263 [GRCh38]
Chr5:92918969 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1077_1084del (p.Tyr360fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002287634] Chr5:93593644..93593651 [GRCh38]
Chr5:92929350..92929357 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.907C>T (p.Gln303Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002292714] Chr5:93588360 [GRCh38]
Chr5:92924066 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.448G>A (p.Gly150Ser) single nucleotide variant not provided [RCV003129080] Chr5:93585471 [GRCh38]
Chr5:92921177 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.85G>A (p.Ala29Thr) single nucleotide variant not provided [RCV003156422] Chr5:93585108 [GRCh38]
Chr5:92920814 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470479] Chr5:93585288 [GRCh38]
Chr5:92920994 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002471324] Chr5:93585330 [GRCh38]
Chr5:92921036 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470454] Chr5:93585367 [GRCh38]
Chr5:92921073 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470489]|not provided [RCV003775523] Chr5:93585072 [GRCh38]
Chr5:92920778 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.674G>C (p.Arg225Pro) single nucleotide variant not provided [RCV002467254] Chr5:93588127 [GRCh38]
Chr5:92923833 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.690C>T (p.Ala230=) single nucleotide variant not provided [RCV002469499] Chr5:93588143 [GRCh38]
Chr5:92923849 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92_93delinsAA (p.Arg31Gln) indel not provided [RCV002301513] Chr5:93585115..93585116 [GRCh38]
Chr5:92920821..92920822 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.359A>G (p.Tyr120Cys) single nucleotide variant not provided [RCV002296040] Chr5:93585382 [GRCh38]
Chr5:92921088 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.361A>G (p.Thr121Ala) single nucleotide variant not provided [RCV002301334] Chr5:93585384 [GRCh38]
Chr5:92921090 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.645C>G (p.Gly215=) single nucleotide variant not provided [RCV003015208] Chr5:93588098 [GRCh38]
Chr5:92923804 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1155C>T (p.Ile385=) single nucleotide variant not provided [RCV002995296] Chr5:93593725 [GRCh38]
Chr5:92929431 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.495_496delinsAA (p.Pro166Thr) indel not provided [RCV002838530] Chr5:93587948..93587949 [GRCh38]
Chr5:92923654..92923655 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.110C>G (p.Ala37Gly) single nucleotide variant Inborn genetic diseases [RCV002905264]|not provided [RCV003574999] Chr5:93585133 [GRCh38]
Chr5:92920839 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.988T>G (p.Ser330Ala) single nucleotide variant not provided [RCV002843152] Chr5:93588441 [GRCh38]
Chr5:92924147 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.291_294dup (p.Gly99fs) duplication not provided [RCV002819908] Chr5:93585313..93585314 [GRCh38]
Chr5:92921019..92921020 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser) single nucleotide variant not provided [RCV003073951] Chr5:93588241 [GRCh38]
Chr5:92923947 [GRCh37]
Chr5:5q15		 benign|uncertain significance
NM_005654.6(NR2F1):c.184G>A (p.Ala62Thr) single nucleotide variant not provided [RCV002908706] Chr5:93585207 [GRCh38]
Chr5:92920913 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.89_133dup (p.Ala44_Gly45insAlaArgGlyGlyGlyGlyGlyAlaGlyGluGlnGlnGlnGlnAla) duplication not provided [RCV003032946] Chr5:93585103..93585104 [GRCh38]
Chr5:92920809..92920810 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.945C>T (p.Asp315=) single nucleotide variant not provided [RCV003039248] Chr5:93588398 [GRCh38]
Chr5:92924104 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1092C>T (p.Pro364=) single nucleotide variant not provided [RCV002923449] Chr5:93593662 [GRCh38]
Chr5:92929368 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002795906] Chr5:93585465 [GRCh38]
Chr5:92921171 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.112G>A (p.Gly38Ser) single nucleotide variant not provided [RCV003017883] Chr5:93585135 [GRCh38]
Chr5:92920841 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.726T>C (p.Asp242=) single nucleotide variant not provided [RCV002885675] Chr5:93588179 [GRCh38]
Chr5:92923885 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.121C>T (p.Gln41Ter) single nucleotide variant not provided [RCV003055101] Chr5:93585144 [GRCh38]
Chr5:92920850 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.14T>C (p.Val5Ala) single nucleotide variant Inborn genetic diseases [RCV002637138]|not provided [RCV002647418] Chr5:93585037 [GRCh38]
Chr5:92920743 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_005654.6(NR2F1):c.677T>G (p.Leu226Arg) single nucleotide variant not provided [RCV002510183] Chr5:93588130 [GRCh38]
Chr5:92923836 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.892C>A (p.His298Asn) single nucleotide variant not provided [RCV002761256] Chr5:93588345 [GRCh38]
Chr5:92924051 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1150G>A (p.Val384Ile) single nucleotide variant not provided [RCV002927178] Chr5:93593720 [GRCh38]
Chr5:92929426 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.594C>T (p.Tyr198=) single nucleotide variant not provided [RCV002953050] Chr5:93588047 [GRCh38]
Chr5:92923753 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr) single nucleotide variant Inborn genetic diseases [RCV002692671]|not provided [RCV003228126] Chr5:93585388 [GRCh38]
Chr5:92921094 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.134G>C (p.Gly45Ala) single nucleotide variant not provided [RCV002572393] Chr5:93585157 [GRCh38]
Chr5:92920863 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.639T>A (p.Ile213=) single nucleotide variant not provided [RCV003008243] Chr5:93588092 [GRCh38]
Chr5:92923798 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1044G>T (p.Ser348=) single nucleotide variant not provided [RCV002643042] Chr5:93593614 [GRCh38]
Chr5:92929320 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs) deletion Inborn genetic diseases [RCV002702241] Chr5:93585113..93585176 [GRCh38]
Chr5:92920819..92920882 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.463+5A>C single nucleotide variant not provided [RCV002624147] Chr5:93585491 [GRCh38]
Chr5:92921197 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.994G>A (p.Ala332Thr) single nucleotide variant not provided [RCV003057255] Chr5:93593564 [GRCh38]
Chr5:92929270 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.165G>A (p.Pro55=) single nucleotide variant not provided [RCV002643045] Chr5:93585188 [GRCh38]
Chr5:92920894 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.81G>A (p.Ala27=) single nucleotide variant not provided [RCV002642662] Chr5:93585104 [GRCh38]
Chr5:92920810 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+2T>A single nucleotide variant not provided [RCV002917269] Chr5:93588446 [GRCh38]
Chr5:92924152 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.687C>A (p.Ser229Arg) single nucleotide variant not provided [RCV002958493] Chr5:93588140 [GRCh38]
Chr5:92923846 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.410A>C (p.Gln137Pro) single nucleotide variant not provided [RCV003023233] Chr5:93585433 [GRCh38]
Chr5:92921139 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.117G>C (p.Glu39Asp) single nucleotide variant not provided [RCV002710493] Chr5:93585140 [GRCh38]
Chr5:92920846 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.58C>T (p.Pro20Ser) single nucleotide variant not provided [RCV003040550] Chr5:93585081 [GRCh38]
Chr5:92920787 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.71A>G (p.Asn24Ser) single nucleotide variant not provided [RCV003058166] Chr5:93585094 [GRCh38]
Chr5:92920800 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.233G>C (p.Gly78Ala) single nucleotide variant not provided [RCV002918733] Chr5:93585256 [GRCh38]
Chr5:92920962 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1140G>A (p.Val380=) single nucleotide variant not provided [RCV003084481] Chr5:93593710 [GRCh38]
Chr5:92929416 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.517C>T (p.Leu173Phe) single nucleotide variant not provided [RCV002650085] Chr5:93587970 [GRCh38]
Chr5:92923676 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.940G>C (p.Val314Leu) single nucleotide variant not provided [RCV003064953] Chr5:93588393 [GRCh38]
Chr5:92924099 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.463+13_463+15del microsatellite not provided [RCV003031006] Chr5:93585495..93585497 [GRCh38]
Chr5:92921201..92921203 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.17G>A (p.Ser6Asn) single nucleotide variant not provided [RCV002834148] Chr5:93585040 [GRCh38]
Chr5:92920746 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.816C>T (p.His272=) single nucleotide variant not provided [RCV003009654] Chr5:93588269 [GRCh38]
Chr5:92923975 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del) microsatellite Inborn genetic diseases [RCV002936872]|NR2F1-related disorder [RCV003906596]|not provided [RCV003575009] Chr5:93585115..93585117 [GRCh38]
Chr5:92920821..92920823 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.90C>A (p.Ala30=) single nucleotide variant not provided [RCV002806420] Chr5:93585113 [GRCh38]
Chr5:92920819 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly) microsatellite not provided [RCV003062848] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1146C>T (p.Ser382=) single nucleotide variant not provided [RCV002579048] Chr5:93593716 [GRCh38]
Chr5:92929422 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.986C>T (p.Thr329Met) single nucleotide variant not provided [RCV003062004] Chr5:93588439 [GRCh38]
Chr5:92924145 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.86C>T (p.Ala29Val) single nucleotide variant not provided [RCV002649692] Chr5:93585109 [GRCh38]
Chr5:92920815 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.981G>A (p.Leu327=) single nucleotide variant not provided [RCV002605079] Chr5:93588434 [GRCh38]
Chr5:92924140 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.179C>T (p.Ala60Val) single nucleotide variant Inborn genetic diseases [RCV002722925] Chr5:93585202 [GRCh38]
Chr5:92920908 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1017C>G (p.Ala339=) single nucleotide variant not provided [RCV002635802] Chr5:93593587 [GRCh38]
Chr5:92929293 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.463+7A>G single nucleotide variant not provided [RCV002606902] Chr5:93585493 [GRCh38]
Chr5:92921199 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.852C>T (p.Ala284=) single nucleotide variant not provided [RCV003073238] Chr5:93588305 [GRCh38]
Chr5:92924011 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.75C>T (p.Pro25=) single nucleotide variant not provided [RCV002606107] Chr5:93585098 [GRCh38]
Chr5:92920804 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.35A>G (p.Gln12Arg) single nucleotide variant not provided [RCV002633298] Chr5:93585058 [GRCh38]
Chr5:92920764 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.114C>A (p.Gly38=) single nucleotide variant not provided [RCV002608945] Chr5:93585137 [GRCh38]
Chr5:92920843 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.79G>C (p.Ala27Pro) single nucleotide variant not provided [RCV002633756] Chr5:93585102 [GRCh38]
Chr5:92920808 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.99C>A (p.Gly33=) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003133072] Chr5:93585122 [GRCh38]
Chr5:92920828 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.5C>T (p.Ala2Val) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003133073] Chr5:93585028 [GRCh38]
Chr5:92920734 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.463+6T>C single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003226035] Chr5:93585492 [GRCh38]
Chr5:92921198 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003142654] Chr5:93588069 [GRCh38]
Chr5:92923775 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.395A>G (p.Gln132Arg) single nucleotide variant not provided [RCV003225288] Chr5:93585418 [GRCh38]
Chr5:92921124 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1 copy number loss Intellectual disability, autosomal dominant 20 [RCV003327617] Chr5:88189536..93784597 [GRCh38]
Chr5:5q14.3-15		 pathogenic
NM_005654.6(NR2F1):c.462_463+19del deletion NR2F1-related disorder [RCV003393246] Chr5:93585485..93585505 [GRCh38]
Chr5:92921191..92921211 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.547del (p.Cys183fs) deletion Inborn genetic diseases [RCV003362234] Chr5:93588000 [GRCh38]
Chr5:92923706 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.296G>T (p.Gly99Val) single nucleotide variant not provided [RCV003571244] Chr5:93585319 [GRCh38]
Chr5:92921025 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1024G>C (p.Glu342Gln) single nucleotide variant not provided [RCV003443225] Chr5:93593594 [GRCh38]
Chr5:92929300 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.559G>C (p.Gly187Arg) single nucleotide variant NR2F1-related disorder [RCV003392961] Chr5:93588012 [GRCh38]
Chr5:92923718 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.764C>G (p.Thr255Ser) single nucleotide variant not provided [RCV003738657] Chr5:93588217 [GRCh38]
Chr5:92923923 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.597del (p.Thr200fs) deletion not provided [RCV003545156] Chr5:93588047 [GRCh38]
Chr5:92923753 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003883300] Chr5:93585476 [GRCh38]
Chr5:92921182 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.393C>T (p.Asp131=) single nucleotide variant not provided [RCV003879321] Chr5:93585416 [GRCh38]
Chr5:92921122 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.975C>T (p.Ile325=) single nucleotide variant not provided [RCV003686953] Chr5:93588428 [GRCh38]
Chr5:92924134 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1205T>G (p.Leu402Arg) single nucleotide variant not provided [RCV003547397] Chr5:93593775 [GRCh38]
Chr5:92929481 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003494604] Chr5:93585363 [GRCh38]
Chr5:92921069 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.464-20TC[2] microsatellite not provided [RCV003738774] Chr5:93587897..93587898 [GRCh38]
Chr5:92923603..92923604 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.53G>T (p.Gly18Val) single nucleotide variant not provided [RCV003695608] Chr5:93585076 [GRCh38]
Chr5:92920782 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.894C>T (p.His298=) single nucleotide variant not provided [RCV003575751] Chr5:93588347 [GRCh38]
Chr5:92924053 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1065C>T (p.Tyr355=) single nucleotide variant NR2F1-related disorder [RCV003966628]|not provided [RCV003739581] Chr5:93593635 [GRCh38]
Chr5:92929341 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.921G>C (p.Glu307Asp) single nucleotide variant not provided [RCV003578801] Chr5:93588374 [GRCh38]
Chr5:92924080 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.992-6G>T single nucleotide variant not provided [RCV003546296] Chr5:93593556 [GRCh38]
Chr5:92929262 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.840C>T (p.Ala280=) single nucleotide variant not provided [RCV003878671] Chr5:93588293 [GRCh38]
Chr5:92923999 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1134C>T (p.Arg378=) single nucleotide variant not provided [RCV003547595] Chr5:93593704 [GRCh38]
Chr5:92929410 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.173C>A (p.Pro58His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003493108] Chr5:93585196 [GRCh38]
Chr5:92920902 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003883305] Chr5:93593666 [GRCh38]
Chr5:92929372 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.246G>A (p.Gln82=) single nucleotide variant not provided [RCV003852272] Chr5:93585269 [GRCh38]
Chr5:92920975 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.348del (p.Asn117fs) deletion not provided [RCV003716860] Chr5:93585370 [GRCh38]
Chr5:92921076 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.240_255del (p.Gln81fs) deletion not provided [RCV003557749] Chr5:93585260..93585275 [GRCh38]
Chr5:92920966..92920981 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.76G>T (p.Ala26Ser) single nucleotide variant not provided [RCV003701324] Chr5:93585099 [GRCh38]
Chr5:92920805 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1171G>A (p.Val391Ile) single nucleotide variant not provided [RCV003670946] Chr5:93593741 [GRCh38]
Chr5:92929447 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1262A>C (p.Gln421Pro) single nucleotide variant not provided [RCV003832581] Chr5:93593832 [GRCh38]
Chr5:92929538 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.29A>G (p.Asp10Gly) single nucleotide variant not provided [RCV003700641] Chr5:93585052 [GRCh38]
Chr5:92920758 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.303C>T (p.Phe101=) single nucleotide variant not provided [RCV003702730] Chr5:93585326 [GRCh38]
Chr5:92921032 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.464-7_464-6del deletion not provided [RCV003561758] Chr5:93587907..93587908 [GRCh38]
Chr5:92923613..92923614 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1086C>T (p.Asn362=) single nucleotide variant not provided [RCV003668373] Chr5:93593656 [GRCh38]
Chr5:92929362 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.191C>T (p.Pro64Leu) single nucleotide variant not provided [RCV003558223] Chr5:93585214 [GRCh38]
Chr5:92920920 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1263G>A (p.Gln421=) single nucleotide variant not provided [RCV003559200] Chr5:93593833 [GRCh38]
Chr5:92929539 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.60C>T (p.Pro20=) single nucleotide variant not provided [RCV003839274] Chr5:93585083 [GRCh38]
Chr5:92920789 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1212C>A (p.Arg404=) single nucleotide variant not provided [RCV003672082] Chr5:93593782 [GRCh38]
Chr5:92929488 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.803C>A (p.Ser268Tyr) single nucleotide variant not provided [RCV003855918] Chr5:93588256 [GRCh38]
Chr5:92923962 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.59C>A (p.Pro20His) single nucleotide variant not provided [RCV003725948] Chr5:93585082 [GRCh38]
Chr5:92920788 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.123G>A (p.Gln41=) single nucleotide variant not provided [RCV003723550] Chr5:93585146 [GRCh38]
Chr5:92920852 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1111C>T (p.Leu371=) single nucleotide variant not provided [RCV003701001] Chr5:93593681 [GRCh38]
Chr5:92929387 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.711C>G (p.Ile237Met) single nucleotide variant not provided [RCV003677959] Chr5:93588164 [GRCh38]
Chr5:92923870 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.973A>G (p.Ile325Val) single nucleotide variant not provided [RCV003567963] Chr5:93588426 [GRCh38]
Chr5:92924132 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.991+9G>A single nucleotide variant not provided [RCV003727074] Chr5:93588453 [GRCh38]
Chr5:92924159 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.585C>G (p.Ala195=) single nucleotide variant not provided [RCV003732970] Chr5:93588038 [GRCh38]
Chr5:92923744 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.142_150del (p.Ala48_His50del) deletion not provided [RCV003684208] Chr5:93585164..93585172 [GRCh38]
Chr5:92920870..92920878 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.282C>T (p.Ser94=) single nucleotide variant not provided [RCV003864072] Chr5:93585305 [GRCh38]
Chr5:92921011 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q14.3-15(chr5:91884840-93976422)x1 copy number loss not specified [RCV003986567] Chr5:91884840..93976422 [GRCh37]
Chr5:5q14.3-15		 pathogenic
NM_005654.6(NR2F1):c.137C>G (p.Ser46Trp) single nucleotide variant not provided [RCV003678135] Chr5:93585160 [GRCh38]
Chr5:92920866 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.184G>C (p.Ala62Pro) single nucleotide variant not provided [RCV003670611] Chr5:93585207 [GRCh38]
Chr5:92920913 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.843C>T (p.Gly281=) single nucleotide variant not provided [RCV003719911] Chr5:93588296 [GRCh38]
Chr5:92924002 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q15(chr5:92845157-93475376)x1 copy number loss not specified [RCV003986549] Chr5:92845157..93475376 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.92GCG[4] (p.Gly35_Gly36del) microsatellite not provided [RCV003731757] Chr5:93585115..93585120 [GRCh38]
Chr5:92920821..92920826 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1231A>G (p.Ser411Gly) single nucleotide variant not provided [RCV003551282] Chr5:93593801 [GRCh38]
Chr5:92929507 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.220C>T (p.Pro74Ser) single nucleotide variant not provided [RCV003846008] Chr5:93585243 [GRCh38]
Chr5:92920949 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.901A>G (p.Ile301Val) single nucleotide variant not provided [RCV003712095] Chr5:93588354 [GRCh38]
Chr5:92924060 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.717C>G (p.Phe239Leu) single nucleotide variant not provided [RCV003566206] Chr5:93588170 [GRCh38]
Chr5:92923876 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.992-19C>T single nucleotide variant not provided [RCV003550346] Chr5:93593543 [GRCh38]
Chr5:92929249 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1192C>G (p.Pro398Ala) single nucleotide variant not provided [RCV003680093] Chr5:93593762 [GRCh38]
Chr5:92929468 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.384T>C (p.Cys128=) single nucleotide variant not provided [RCV003859710] Chr5:93585407 [GRCh38]
Chr5:92921113 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+17_991+38dup duplication not provided [RCV003819960] Chr5:93588458..93588459 [GRCh38]
Chr5:92924164..92924165 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp) single nucleotide variant NR2F1-related disorder [RCV003961562] Chr5:93585307 [GRCh38]
Chr5:92921013 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1051G>A (p.Ala351Thr) single nucleotide variant not provided [RCV004547037] Chr5:93593621 [GRCh38]
Chr5:92929327 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3 copy number gain See cases [RCV004442826] Chr5:89923199..104256041 [GRCh37]
Chr5:5q14.3-21.2		 uncertain significance
NM_005654.6(NR2F1):c.404G>A (p.Arg135His) single nucleotide variant Inborn genetic diseases [RCV004491273] Chr5:93585427 [GRCh38]
Chr5:92921133 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.460G>A (p.Glu154Lys) single nucleotide variant not provided [RCV004546106] Chr5:93585483 [GRCh38]
Chr5:92921189 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003482194] Chr5:93585026 [GRCh38]
Chr5:92920732 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly) single nucleotide variant See cases [RCV003156192] Chr5:93585447 [GRCh38]
Chr5:92921153 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1023C>G (p.Ile341Met) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003131828] Chr5:93593593 [GRCh38]
Chr5:92929299 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs) microsatellite Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003387581] Chr5:93593772..93593773 [GRCh38]
Chr5:92929478..92929479 [GRCh37]
Chr5:5q15		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary ValueCount of predictions:909Count of miRNA genes:595Interacting mature miRNAs:666Transcripts:ENST00000327111, ENST00000502982, ENST00000506162, ENST00000512697Prediction methods:Microtar, Miranda, Rnahybrid, TargetscanResult types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.
Markers in Region
SHGC-12323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,929,573 - 92,929,773UniSTSGRCh37Build 36592,955,329 - 92,955,529RGDNCBI36Celera588,788,971 - 88,789,171RGDCytogenetic Map5q14UniSTSHuRef588,102,524 - 88,102,724UniSTSTNG Radiation Hybrid Map541913.0UniSTSGeneMap99-G3 RH Map53780.0UniSTS
NR2F1_3233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,929,329 - 92,929,984UniSTSGRCh37Build 36592,955,085 - 92,955,740RGDNCBI36Celera588,788,727 - 88,789,382RGDHuRef588,102,280 - 88,102,935UniSTS
NR2F1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,923,711 - 92,924,083UniSTSGRCh37Celera588,783,109 - 88,783,481UniSTSHuRef588,096,660 - 88,097,032UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 2
Medium 1540 285 1355 168 177 170 763 799 3451 253 968 1401 1 605 635 1
Low 870 1484 361 442 446 291 2714 274 277 151 465 189 162 1 599 1381 3
Below cutoff 23 1135 7 12 763 4 860 1114 6 12 18 15 10 770 1
View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC106818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ709180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ709181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ709182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ709183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000327111   &xrArr;   ENSP00000325819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,583,222 - 93,594,611 (+)Ensembl
RefSeq Acc Id: ENST00000502982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,587,460 - 93,594,531 (+)Ensembl
RefSeq Acc Id: ENST00000506162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,591,973 - 93,594,143 (+)Ensembl
RefSeq Acc Id: ENST00000512697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,587,101 - 93,594,540 (+)Ensembl
RefSeq Acc Id: ENST00000615873   &xrArr;   ENSP00000481517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,585,024 - 93,594,517 (+)Ensembl
RefSeq Acc Id: ENST00000647447   &xrArr;   ENSP00000495740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,585,024 - 93,593,842 (+)Ensembl
RefSeq Acc Id: ENST00000700211   &xrArr;   ENSP00000514862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,585,735 - 93,594,280 (+)Ensembl
RefSeq Acc Id: NM_001410754   &xrArr;   NP_001397683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,587,099 - 93,594,611 (+)NCBIT2T-CHM13v2.0594,071,161 - 94,078,673 (+)NCBI
RefSeq Acc Id: NM_005654   &xrArr;   NP_005645
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,583,222 - 93,594,611 (+)NCBIGRCh37592,919,043 - 92,930,319 (+)NCBIBuild 36592,944,799 - 92,955,544 (+)NCBI ArchiveHuRef588,092,169 - 88,102,739 (+)ENTREZGENECHM1_1592,351,749 - 92,363,018 (+)NCBIT2T-CHM13v2.0594,067,283 - 94,078,673 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001397683 (Get FASTA)   NCBI Sequence Viewer  
  NP_005645 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04154 (Get FASTA)   NCBI Sequence Viewer  
  AAH17493 (Get FASTA)   NCBI Sequence Viewer  
  ADZ17387 (Get FASTA)   NCBI Sequence Viewer  
  ADZ17388 (Get FASTA)   NCBI Sequence Viewer  
  ADZ17389 (Get FASTA)   NCBI Sequence Viewer  
  ADZ17390 (Get FASTA)   NCBI Sequence Viewer  
  CAA31283 (Get FASTA)   NCBI Sequence Viewer  
  CAA34277 (Get FASTA)   NCBI Sequence Viewer  
  EAW96008 (Get FASTA)   NCBI Sequence Viewer  
  EAW96009 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000325819
  ENSP00000325819.3
  ENSP00000481517.1
  ENSP00000495740.1
  ENSP00000514862.1
  ENSP00000514863
  ENSP00000514863.1
  ENSP00000514864.1
GenBank Protein P10589 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005645   &xlArr;   NM_005654
- Peptide Label: isoform 1
- UniProtKB: P10589 (UniProtKB/Swiss-Prot),   F1DAL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000481517   &xlArr;   ENST00000615873
RefSeq Acc Id: ENSP00000325819   &xlArr;   ENST00000327111
RefSeq Acc Id: ENSP00000495740   &xlArr;   ENST00000647447
RefSeq Acc Id: ENSP00000514862   &xlArr;   ENST00000700211
RefSeq Acc Id: NP_001397683   &xlArr;   NM_001410754
- Peptide Label: isoform 2
- UniProtKB: A0A8V8TQQ6 (UniProtKB/TrEMBL)
Protein Domains
NR LBD   Nuclear receptor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10589-F1-model_v2 AlphaFold P10589 1-423 view protein structure

Promoters
RGD ID:6803406
Promoter ID:HG_KWN:50664
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:OTTHUMT00000239293
Position:
Human AssemblyChrPosition (strand)Source
Build 36592,944,566 - 92,946,817 (+)MPROMDB
RGD ID:6870084
Promoter ID:EPDNEW_H8207
Type:initiation region
Name:NR2F1_1
Description:nuclear receptor subfamily 2 group F member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8208  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,583,224 - 93,583,284EPDNEW
RGD ID:6870086
Promoter ID:EPDNEW_H8208
Type:initiation region
Name:NR2F1_2
Description:nuclear receptor subfamily 2 group F member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8207  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,584,557 - 93,584,617EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7975 AgrOrtholog
COSMIC NR2F1 COSMIC
Ensembl Genes ENSG00000175745 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000327111 ENTREZGENE
  ENST00000327111.8 UniProtKB/Swiss-Prot
  ENST00000502982.2 UniProtKB/TrEMBL
  ENST00000512697 ENTREZGENE
  ENST00000512697.2 UniProtKB/TrEMBL
  ENST00000615873.2 UniProtKB/TrEMBL
  ENST00000647447.1 UniProtKB/TrEMBL
  ENST00000700211.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175745 GTEx
HGNC ID HGNC:7975 ENTREZGENE
Human Proteome Map NR2F1 Human Proteome Map
InterPro NHR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7025 UniProtKB/Swiss-Prot
NCBI Gene 7025 ENTREZGENE
OMIM 132890 OMIM
PANTHER COUP TRANSCRIPTION FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR HORMONE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31758 PharmGKB
PRINTS COUPTNFACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STRDHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STROIDFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NR_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TPV3_HUMAN UniProtKB/TrEMBL
  A0A8V8TQQ6 ENTREZGENE, UniProtKB/TrEMBL
  COT1_HUMAN UniProtKB/Swiss-Prot
  F1DAL6 ENTREZGENE, UniProtKB/TrEMBL
  F1DAL7_HUMAN UniProtKB/TrEMBL
  F1DAL9_HUMAN UniProtKB/TrEMBL
  P10589 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NR2F1  nuclear receptor subfamily 2 group F member 1    nuclear receptor subfamily 2, group F, member 1  Symbol and/or name change 5135510 APPROVED

 


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