EP300

EP300 lysine acetyltransferase

Summary

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]

Known Variants1,343 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs758482071	22:41,488,489	G/A	—	likely benign
rs376284350	22:41,488,526	C/T	—	benign
rs752378303	22:41,489,000	G/T	—	likely benign
rs181951278	22:41,489,015	G/A	—	uncertain significance
rs2058682150	22:41,489,017	G/T	—	uncertain significance
rs758604225	22:41,489,020	T/A	—	uncertain significance
rs2145665490	22:41,489,036	C/T	—	uncertain significance
rs764405219	22:41,489,037	C/G	—	likely benign
rs762278198	22:41,489,039	C/T	—	conflicting classifications of pathogenicity
rs750974943	22:41,489,041	T/A	—	benign
rs2145665576	22:41,489,050	G/T	—	uncertain significance
rs752119517	22:41,489,053	G/A	—	likely benign
rs2145665599	22:41,489,055	C/G	—	uncertain significance
rs757050695	22:41,489,071	G/C	—	benign
rs543993838	22:41,489,077	C/A	—	likely benign
rs2058682567	22:41,489,083	G/A	—	likely benign
rs2145665814	22:41,489,096	G/A	—	uncertain significance
rs916422444	22:41,489,111	C/T	—	likely benign
rs375565921	22:41,489,112	G/A	—	likely benign
rs376024146	22:41,489,114	C/T	—	likely benign
rs201124490	22:41,489,115	A/G	—	benign
rs752311965	22:41,489,119	C/T	—	likely benign
rs1431755616	22:41,489,121	G/A	—	likely benign
rs201866159	22:41,489,143	C/T	—	benign
rs79025492	22:41,489,210	C/A	—	benign
rs146487972	22:41,489,362	G/C	—	benign
rs11090039	22:41,496,800	G/A	intron variant	—
rs17002284	22:41,496,846	A/T	—	—
rs738630	22:41,511,171	T/C	intron variant	—
rs112624735	22:41,512,458	C/T	intron variant	—
rs73426540	22:41,512,989	G/A	—	likely benign
rs2144342	22:41,513,094	G/T	—	benign
rs5758235	22:41,513,175	T/C	—	benign
rs2518115298	22:41,513,182	T/C	—	likely benign
rs949538020	22:41,513,188	T/C	—	uncertain significance
rs546292445	22:41,513,199	T/G	—	conflicting classifications of pathogenicity
rs2145696235	22:41,513,200	C/G	—	uncertain significance
rs374715858	22:41,513,204	A/G	—	likely benign
rs1430803896	22:41,513,220	G/A	—	uncertain significance
rs2145696320	22:41,513,233	A/T	—	uncertain significance
rs2058826373	22:41,513,247	A/G	—	uncertain significance
rs2518115448	22:41,513,248	C/T	—	uncertain significance
rs1440053697	22:41,513,252	A/G	—	benign
rs147566983	22:41,513,253	T/C	—	likely benign
rs1186074560	22:41,513,265	A/G	—	uncertain significance
rs2518115485	22:41,513,266	A/G	—	uncertain significance
rs1569090280	22:41,513,271	G/C	—	uncertain significance
rs772562025	22:41,513,285	G/C	—	uncertain significance
rs761323972	22:41,513,287	T/C	—	uncertain significance
rs764734253	22:41,513,290	A/G	—	uncertain significance
rs370355846	22:41,513,302	G/A	—	benign
rs1569090318	22:41,513,304	A/G	—	conflicting classifications of pathogenicity
rs539635560	22:41,513,310	C/A	—	likely benign
rs752625922	22:41,513,327	A/G	—	likely benign
rs2518115650	22:41,513,334	C/G	—	uncertain significance
rs1601598122	22:41,513,352	C/T	—	pathogenic
rs147121738	22:41,513,353	G/A	—	benign
rs367583060	22:41,513,366	C/T	—	likely benign
rs138538553	22:41,513,367	C/T	—	benign
rs2058827085	22:41,513,368	C/G	—	uncertain significance
rs2518115744	22:41,513,380	T/C	—	uncertain significance
rs779548244	22:41,513,383	G/A	—	benign
rs762557708	22:41,513,397	G/A	—	uncertain significance
rs879722959	22:41,513,398	G/A	—	likely benign
rs1193355188	22:41,513,403	G/A	—	uncertain significance
rs2058827322	22:41,513,407	T/C	—	uncertain significance
rs150245975	22:41,513,412	A/G	—	likely benign
rs1064797038	22:41,513,415	C/T	stop gained	pathogenic
rs2145696747	22:41,513,416	A/G	—	uncertain significance
rs138876937	22:41,513,420	C/T	—	likely benign
rs2145696782	22:41,513,428	G/A	—	uncertain significance
rs756031537	22:41,513,434	C/T	—	likely benign
rs2518115923	22:41,513,438	A/G	—	likely benign
rs1320689399	22:41,513,442	G/A	—	likely benign
rs1303897359	22:41,513,455	G/A	—	likely benign
rs1243111732	22:41,513,458	T/C	—	conflicting classifications of pathogenicity
rs757476470	22:41,513,459	G/C	—	uncertain significance
rs2058827671	22:41,513,461	T/A	—	uncertain significance
rs200635644	22:41,513,472	A/G	—	likely benign
rs149380994	22:41,513,479	A/T	—	conflicting classifications of pathogenicity
rs748820102	22:41,513,490	A/T	—	likely benign
rs2145697001	22:41,513,529	C/G	—	uncertain significance
rs760595859	22:41,513,533	G/A	—	uncertain significance
rs764079704	22:41,513,538	A/G	—	likely benign
rs753658203	22:41,513,539	C/T	—	likely benign
rs376779611	22:41,513,540	G/C	—	likely benign
rs138241570	22:41,513,544	T/C	—	likely benign
rs780440242	22:41,513,547	A/G	—	likely benign
rs142758675	22:41,513,550	G/A	—	conflicting classifications of pathogenicity
rs777895834	22:41,513,553	A/G	—	likely benign
rs1312379259	22:41,513,554	T/C	—	conflicting classifications of pathogenicity
rs748538778	22:41,513,565	C/A	—	likely benign
rs770598337	22:41,513,567	A/G	—	conflicting classifications of pathogenicity
rs2145697142	22:41,513,574	C/T	—	pathogenic
rs754310554	22:41,513,583	A/G	—	conflicting classifications of pathogenicity
rs2518116415	22:41,513,590	T/C	—	uncertain significance
rs1343346566	22:41,513,591	G/T	—	conflicting classifications of pathogenicity
rs2058828603	22:41,513,594	C/T	—	likely benign
rs533349187	22:41,513,608	C/T	—	benign
rs146041458	22:41,513,609	G/A	—	likely benign

Showing 100 of 1,343 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.