• 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)