EP300 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EP300 (HGNC:3373) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- E1A binding protein p300
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- p300, KAT3B
- %HI
- 0.67(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.1(Read more about gnomAD LOEUF score)
- Cytoband
- 22q13.2
- Genomic Coordinates
-
GRCh37/hg19: chr22:41488596-41576081 NCBI Ensembl UCSC GRCh38/hg38: chr22:41092592-41180077 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001429.4 ENST00000263253.9 (Read more about MANE Select)
- Function
- Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes a... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-21306
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/14/2013
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Monarch
HI Evidence:
-
PUBMED:
15706485
Roelfsema et al (2005) reported 3 patients with Rubinstein-Taybi syndrome with de novo loss of function mutations, including one nonsense, one frameshift, and one deletion of exon 1. All resulted in loss of the HAT domain.
-
PUBMED:
19353645
Foley et al (2009) reported a patient with mild Rubinstein-Taybi syndrome with a de novo deletion of exons 3-8.
HI Evidence Comments:
Several loss of function mutations, including exonic deletions, frameshift, and nonsense mutations, are catalogued in the LOVD EP300 mutation database. These are associated with Rubinstein-Taybi syndrome and may cause a milder phenotype than mutations in CREBBP. See GeneReviews. Additional case reports include PMIDs 20717166 and 17299436.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)