Developmental Brain Disorder Gene Database

LoF Variant Gene

Gene
Search
Return to LoF Gene Listing Page

Tier

1

EP300

HGNC:3373 (protein-coding gene)

E1A binding protein p300

Unique Cases:
37
Disorders:
ID, ASD, EP, ADHD
Last Updated:
November 4, 2024

Summary
Cases
Publications
External

Gene Summary:

DBD Genes Classification
EP300 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
Gene 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 (PubMed:23415232, PubMed:23934153, PubMed:8945521). Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octame... (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
p300, KAT3B
Chromosomal Location
22q13.2
Genomic Coordinates
GRCh37:chr22:41488614-41576081
GRCh38:chr22:41092592-41180077
Associated Disorders
Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder

Predictive Scores:

HI Score (Decipher)

0.67

pLI (gnomAD)

1.00

LOEUF (gnomAD)

0.1

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Definitive

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Definitive3 Strong2

Publications:

Jezela-Stanek A et. al., The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes., Mol Genet Genomic Med, 2020
Woods SA et. al., Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome., Am J Med Genet A, 2014
Hamilton MJ et. al., Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum., Clin Dysmorphol, 2016
Bartsch O et. al., Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome., Am J Med Genet A, 2010
Bartholdi D et. al., Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300., J Med Genet, 2007
Dillon OJ et. al., Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders., Eur J Hum Genet, 2018
López M et. al., Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum., BMC Med Genet, 2018
Diets IJ et. al., High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer., Clin Cancer Res, 2018
Negri G et. al., Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene., Clin Genet, 2015
Costain G et. al., Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy., Neuroscience, 2019
Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015
Costain G et. al., Genome-wide sequencing expands the phenotypic spectrum of EP300 variants., Eur J Med Genet, 2018
Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015
López M et. al., First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant., BMC Med Genet, 2016
Foley P et. al., Further case of Rubinstein-Taybi syndrome due to a deletion in EP300., Am J Med Genet A, 2009
Brea-Fernández AJ et. al., Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability., Eur J Hum Genet, 2022
et. al., , ,

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
gnomAD
Back To Top

Autism & Developmental Medicine Institute