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CREBBP

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Gene Facts External Data Attribution

HGNC Symbol
CREBBP (HGNC:2348) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CREB binding protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RSTS
Alias symbols
RTS, CBP, KAT3A
GenCC Classifications
Definitive4 Strong3 (Read more about GenCC Classifications)
%HI
0.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD v4.0 pLI score)
LOEUF
0.1(Read more about gnomAD v4.0 LOEUF score)
pLI and LOEUF metrics based on ENST00000262367 transcript
ACMG SF v3.2 Gene?
No
Cytoband
16p13.3
Genomic Coordinates
GRCh37/hg19: chr16:3775055-3930714 NCBI Ensembl UCSC
GRCh38/hg38: chr16:3725054-3880713 NCBI Ensembl UCSC
MANE Select Transcript
NM_004380.3 ENST00000262367.10 (Read more about MANE Select)
Function
Acetylates histones, giving a specific tag for transcriptional activation (PubMed:21131905, PubMed:24616510). Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) (PubMed:21131905). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:24207024, PubMed:28790157, PubMed:30540930, PubMed:35675826, PubMed:9707565). Binds specifically to ph... (Source: Uniprot)
Group By Activity Group By Gene-Disease Pair

Gene-Disease Validity

Gene Disease MOI Expert Panel Classification Report & Date
CREBBP
Rubinstein-Taybi syndrome
MONDO:0019188
AD Intellectual Disability and Autism GCEP Definitive 04/27/2018
Lumping and Splitting is the process by which ClinGen curation groups determine which disease entity they will use for evaluation. Groups review current disease and/or phenotype assertions (e.g. OMIM MIM phenotypes) and select the included and excluded phenotypes according to current guidelines. MIM phenotypes represented below are those that were available on the stated evaluation date.
Included MIM Phenotypes :
No Included MIM Phenotypes were specified
Excluded MIM Phenotypes :
No Excluded MIM Phenotypes were specified
Evaluation Date :
04/27/2018
Curation Type :
No curation type was specified (Read more about curation type)
Rationales :
No rationales were specified (Read more about curation type)
PMIDs :
No PMIDs were specified
Notes :
No Notes were specified
Expert Panel:
No Secondary Contributors were specified
History:
None
Other Stuff:
Lorem Epsum
Gene Disease Working Group HI Score & TS Score Report & Date
CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations
MONDO:0008393
Dosage Sensitivity WG 3 (Sufficient Evidence for Haploinsufficiency) 10/23/2019
CREBBP Dosage Sensitivity WG 0 (No Evidence for Triplosensitivity) 10/23/2019
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