The EP300 gene homepage

General information
Gene symbol EP300
Gene name E1A binding protein p300
Chromosome 22
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_009817.1
Transcript reference NM_001429.3
Exon/intron information NM_001429.3 exon/intron table
Associated with diseases CRC, ID, RSTS, RSTS1, RSTS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 180
Unique public DNA variants reported 163
Individuals with public variants 236
Hidden variants 23
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created June 21, 2007
Date last updated November 01, 2022
Version EP300:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001429.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 3373
Entrez Gene 2033
PubMed articles EP300
OMIM - Gene 602700
OMIM - Diseases CRC (cancer, colorectal, susceptibility to (CRC))
RSTS1 (Rubinstein-Taybi syndrome, type 1 (RSTS-1))
RSTS2 (Rubinstein-Taybi syndrome, type 2 (RSTS-2))
GeneCards EP300
GeneTests EP300
Orphanet EP300

Active transcripts




NCBI ID     

NCBI Protein ID     

00000166 22 E1A binding protein p300 NM_001429.3 NP_001420.2 180

Copyright & disclaimer
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