Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	2033
Gene name	EP300 lysine acetyltransferase
Gene symbol	EP300
Synonyms (NCBI Gene)	KAT3BMKHK2RSTS2p300
Chromosome	22
Chromosome location	22q13.2
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

Show/Hide all (97)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937578	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137853038	C>T	Pathogenic	Coding sequence variant, stop gained
rs137853039	C>T	Pathogenic	Coding sequence variant, stop gained
rs139310551	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs147583157	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150498069	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs368437789	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs528866215	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs533875300	GCA>-	Pathogenic, likely-benign, benign-likely-benign	Inframe deletion, coding sequence variant
rs565779970	T>A,C	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs587778256	CCAGTTCCAGCA>-	Pathogenic, likely-benign	Coding sequence variant, inframe indel
rs746398873	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs786205557	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs797045559	->T	Pathogenic	Frameshift variant, coding sequence variant
rs797045560	TCAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs875989807	CAGCAGCAACAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs876661318	TATACTCAGAATCCTGGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs879253873	->C	Pathogenic	Frameshift variant, coding sequence variant
rs886037664	CTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041520	G>T	Pathogenic	Splice acceptor variant
rs886041739	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886041830	C>T	Pathogenic	Coding sequence variant, stop gained
rs886042977	GTAA>-	Likely-pathogenic	Splice donor variant, intron variant
rs886043598	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057517732	T>G	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs1057518002	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519012	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519375	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519889	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521737	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794624	->CCTATGTATATCTCCTATACATATCTCCTATCGAACA	Pathogenic	Frameshift variant, coding sequence variant
rs1064795607	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064797038	C>T	Pathogenic	Coding sequence variant, stop gained
rs1085307564	ACCAACTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307911	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1114167305	G>C	Pathogenic	Intron variant
rs1114167306	T>G	Pathogenic	Coding sequence variant, missense variant
rs1210404526	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1464734494	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1555902247	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555905780	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555907278	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555907286	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555907749	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555909666	G>T	Pathogenic	Coding sequence variant, stop gained
rs1555909697	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555910114	A>G	Pathogenic	Splice acceptor variant
rs1555910122	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555910482	AGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555910602	TTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555910814	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555910821	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1555911075	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555911098	A>G	Likely-pathogenic	Splice acceptor variant
rs1555911201	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1555911313	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs1555911316	ACCCAA>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1555911334	G>T	Likely-pathogenic	Intron variant
rs1555911573	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555911580	AGAAAACGAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555912040	->ATGT	Pathogenic	Coding sequence variant, frameshift variant
rs1555912107	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555912238	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555912362	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569090642	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569107391	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1569108381	CACAGAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569118537	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569120903	A>C	Pathogenic	Missense variant, coding sequence variant
rs1569120910	GGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1569122847	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601598122	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601598354	TGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601607265	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601610306	GCCAT>TATGTTGAGCCATAACTGCATGTTGAGCCCA	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1601613391	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601617062	->A	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1601617065	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1601618876	TATGGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601621480	AGAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601621506	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1601623271	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601624722	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601624754	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601624790	->A	Pathogenic	Coding sequence variant, stop gained
rs1601628237	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1601629319	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1601633128	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601633708	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1601634247	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601636935	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1601639958	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1601640102	GGCCAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601640325	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601640370	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1601641819	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601642812	A>G	Pathogenic	Stop lost, terminator codon variant

286

Show/Hide all (286)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003604	hsa-miR-26b-5p	Microarray	19569050
MIRT003603	hsa-miR-194-5p	Microarray	19569050
MIRT004566	hsa-miR-374a-5p	Microarray	19569050
MIRT003601	hsa-miR-182-5p	Microarray	19569050
MIRT003600	hsa-miR-429	Microarray	19569050
MIRT003599	hsa-miR-200b-3p	Microarray	19569050
MIRT003598	hsa-miR-200c-3p	Microarray	19569050
MIRT007087	hsa-miR-150-5p	Luciferase reporter assay	23211718
MIRT007087	hsa-miR-150-5p	Luciferase reporter assay	23211718
MIRT021346	hsa-miR-9-5p	Microarray	17612493
MIRT051995	hsa-let-7b-5p	CLASH	23622248
MIRT051995	hsa-let-7b-5p	CLASH	23622248
MIRT050220	hsa-miR-25-3p	CLASH	23622248
MIRT049923	hsa-miR-30a-3p	CLASH	23622248
MIRT049743	hsa-miR-92a-3p	CLASH	23622248
MIRT047948	hsa-miR-30c-5p	CLASH	23622248
MIRT047254	hsa-miR-181b-5p	CLASH	23622248
MIRT047254	hsa-miR-181b-5p	CLASH	23622248
MIRT046334	hsa-miR-23b-3p	CLASH	23622248
MIRT045823	hsa-miR-140-5p	CLASH	23622248
MIRT045469	hsa-miR-149-5p	CLASH	23622248
MIRT041490	hsa-miR-193b-3p	CLASH	23622248
MIRT041181	hsa-miR-181d-5p	CLASH	23622248
MIRT039708	hsa-miR-615-3p	CLASH	23622248
MIRT038305	hsa-miR-130b-5p	CLASH	23622248
MIRT054244	hsa-miR-574-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23554959
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	24906430
MIRT609041	hsa-miR-4481	HITS-CLIP	24906430
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	24906430
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	24906430
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	24906430
MIRT609038	hsa-miR-328-5p	HITS-CLIP	24906430
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	24906430
MIRT609036	hsa-miR-4447	HITS-CLIP	24906430
MIRT609035	hsa-miR-4472	HITS-CLIP	24906430
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	24906430
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	24906430
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	24906430
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	24906430
MIRT609030	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT007087	hsa-miR-150-5p	Luciferase reporter assayqRT-PCRWestern blot	27285761
MIRT007087	hsa-miR-150-5p	Luciferase reporter assayqRT-PCRWestern blot	27285761
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609034	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT609043	hsa-miR-1296-3p	HITS-CLIP	27418678
MIRT003604	hsa-miR-26b-5p	HITS-CLIP	27418678
MIRT003604	hsa-miR-26b-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609038	hsa-miR-328-5p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609031	hsa-miR-4433b-3p	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609036	hsa-miR-4447	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609035	hsa-miR-4472	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609041	hsa-miR-4481	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609042	hsa-miR-4745-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609033	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609030	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT609040	hsa-miR-6795-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301684	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT301685	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609037	hsa-miR-6885-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609039	hsa-miR-6887-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT609032	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT965021	hsa-miR-1224-3p	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965023	hsa-miR-1260	CLIP-seq
MIRT965024	hsa-miR-1260b	CLIP-seq
MIRT965025	hsa-miR-1271	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965027	hsa-miR-1280	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965029	hsa-miR-1299	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965031	hsa-miR-148a	CLIP-seq
MIRT965032	hsa-miR-148b	CLIP-seq
MIRT965033	hsa-miR-150	CLIP-seq
MIRT965034	hsa-miR-152	CLIP-seq
MIRT965035	hsa-miR-182	CLIP-seq
MIRT965036	hsa-miR-1825	CLIP-seq
MIRT965037	hsa-miR-1912	CLIP-seq
MIRT965038	hsa-miR-1913	CLIP-seq
MIRT965039	hsa-miR-2116	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965041	hsa-miR-217	CLIP-seq
MIRT965042	hsa-miR-22	CLIP-seq
MIRT965043	hsa-miR-2682	CLIP-seq
MIRT965044	hsa-miR-26a	CLIP-seq
MIRT965045	hsa-miR-26b	CLIP-seq
MIRT965046	hsa-miR-302f	CLIP-seq
MIRT965047	hsa-miR-3184	CLIP-seq
MIRT965048	hsa-miR-324-3p	CLIP-seq
MIRT965049	hsa-miR-337-5p	CLIP-seq
MIRT965050	hsa-miR-3613-3p	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT965052	hsa-miR-369-3p	CLIP-seq
MIRT965053	hsa-miR-3714	CLIP-seq
MIRT965054	hsa-miR-374a	CLIP-seq
MIRT965055	hsa-miR-374b	CLIP-seq
MIRT965056	hsa-miR-374c	CLIP-seq
MIRT965057	hsa-miR-377	CLIP-seq
MIRT965058	hsa-miR-3919	CLIP-seq
MIRT965059	hsa-miR-410	CLIP-seq
MIRT965060	hsa-miR-423-5p	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT965062	hsa-miR-4277	CLIP-seq
MIRT965063	hsa-miR-4418	CLIP-seq
MIRT965064	hsa-miR-449c	CLIP-seq
MIRT965065	hsa-miR-450b-5p	CLIP-seq
MIRT965066	hsa-miR-4650-5p	CLIP-seq
MIRT965067	hsa-miR-4668-3p	CLIP-seq
MIRT965068	hsa-miR-4709-5p	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965070	hsa-miR-4749-3p	CLIP-seq
MIRT965071	hsa-miR-4761-5p	CLIP-seq
MIRT965072	hsa-miR-4774-5p	CLIP-seq
MIRT965073	hsa-miR-4775	CLIP-seq
MIRT965074	hsa-miR-4782-5p	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT965076	hsa-miR-499-3p	CLIP-seq
MIRT965077	hsa-miR-499a-3p	CLIP-seq
MIRT965078	hsa-miR-507	CLIP-seq
MIRT965079	hsa-miR-509-3-5p	CLIP-seq
MIRT965080	hsa-miR-509-5p	CLIP-seq
MIRT965081	hsa-miR-511	CLIP-seq
MIRT965082	hsa-miR-516b	CLIP-seq
MIRT965083	hsa-miR-548a-3p	CLIP-seq
MIRT965084	hsa-miR-548ae	CLIP-seq
MIRT965085	hsa-miR-548aj	CLIP-seq
MIRT965086	hsa-miR-548am	CLIP-seq
MIRT965087	hsa-miR-548an	CLIP-seq
MIRT965088	hsa-miR-548e	CLIP-seq
MIRT965089	hsa-miR-548f	CLIP-seq
MIRT965090	hsa-miR-548x	CLIP-seq
MIRT965091	hsa-miR-557	CLIP-seq
MIRT965092	hsa-miR-582-3p	CLIP-seq
MIRT965093	hsa-miR-590-3p	CLIP-seq
MIRT965094	hsa-miR-624	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965096	hsa-miR-655	CLIP-seq
MIRT965097	hsa-miR-885-3p	CLIP-seq
MIRT965098	hsa-miR-889	CLIP-seq
MIRT965099	hsa-miR-96	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965031	hsa-miR-148a	CLIP-seq
MIRT965032	hsa-miR-148b	CLIP-seq
MIRT965034	hsa-miR-152	CLIP-seq
MIRT965036	hsa-miR-1825	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965056	hsa-miR-374c	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT965066	hsa-miR-4650-5p	CLIP-seq
MIRT965068	hsa-miR-4709-5p	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965073	hsa-miR-4775	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT965093	hsa-miR-590-3p	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965096	hsa-miR-655	CLIP-seq
MIRT965098	hsa-miR-889	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965031	hsa-miR-148a	CLIP-seq
MIRT965032	hsa-miR-148b	CLIP-seq
MIRT965034	hsa-miR-152	CLIP-seq
MIRT965036	hsa-miR-1825	CLIP-seq
MIRT2220420	hsa-miR-200b	CLIP-seq
MIRT2220421	hsa-miR-200c	CLIP-seq
MIRT965039	hsa-miR-2116	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965044	hsa-miR-26a	CLIP-seq
MIRT965045	hsa-miR-26b	CLIP-seq
MIRT2220422	hsa-miR-27a	CLIP-seq
MIRT2220423	hsa-miR-27b	CLIP-seq
MIRT965046	hsa-miR-302f	CLIP-seq
MIRT2220424	hsa-miR-3616-5p	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT2220425	hsa-miR-3647-5p	CLIP-seq
MIRT965053	hsa-miR-3714	CLIP-seq
MIRT965056	hsa-miR-374c	CLIP-seq
MIRT965062	hsa-miR-4277	CLIP-seq
MIRT2220426	hsa-miR-4494	CLIP-seq
MIRT2220427	hsa-miR-4635	CLIP-seq
MIRT965066	hsa-miR-4650-5p	CLIP-seq
MIRT2220428	hsa-miR-4666-5p	CLIP-seq
MIRT965067	hsa-miR-4668-3p	CLIP-seq
MIRT2220429	hsa-miR-4670-3p	CLIP-seq
MIRT2220430	hsa-miR-4684-5p	CLIP-seq
MIRT965068	hsa-miR-4709-5p	CLIP-seq
MIRT2220431	hsa-miR-4768-5p	CLIP-seq
MIRT965073	hsa-miR-4775	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT2220432	hsa-miR-499a-5p	CLIP-seq
MIRT2220433	hsa-miR-513a-5p	CLIP-seq
MIRT2220434	hsa-miR-573	CLIP-seq
MIRT965093	hsa-miR-590-3p	CLIP-seq
MIRT2220435	hsa-miR-600	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965096	hsa-miR-655	CLIP-seq
MIRT2220436	hsa-miR-944	CLIP-seq
MIRT965022	hsa-miR-1245	CLIP-seq
MIRT965026	hsa-miR-1279	CLIP-seq
MIRT965028	hsa-miR-1284	CLIP-seq
MIRT965030	hsa-miR-132	CLIP-seq
MIRT965040	hsa-miR-212	CLIP-seq
MIRT965057	hsa-miR-377	CLIP-seq
MIRT965075	hsa-miR-4796-5p	CLIP-seq
MIRT965095	hsa-miR-640	CLIP-seq
MIRT965029	hsa-miR-1299	CLIP-seq
MIRT965047	hsa-miR-3184	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT965060	hsa-miR-423-5p	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT2524244	hsa-miR-4282	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965074	hsa-miR-4782-5p	CLIP-seq
MIRT965082	hsa-miR-516b	CLIP-seq
MIRT965087	hsa-miR-548an	CLIP-seq
MIRT965029	hsa-miR-1299	CLIP-seq
MIRT965043	hsa-miR-2682	CLIP-seq
MIRT965047	hsa-miR-3184	CLIP-seq
MIRT965051	hsa-miR-3647-3p	CLIP-seq
MIRT965053	hsa-miR-3714	CLIP-seq
MIRT965060	hsa-miR-423-5p	CLIP-seq
MIRT965061	hsa-miR-4271	CLIP-seq
MIRT2524244	hsa-miR-4282	CLIP-seq
MIRT965064	hsa-miR-449c	CLIP-seq
MIRT965069	hsa-miR-4725-3p	CLIP-seq
MIRT965074	hsa-miR-4782-5p	CLIP-seq
MIRT965082	hsa-miR-516b	CLIP-seq
MIRT965087	hsa-miR-548an	CLIP-seq

Show/Hide all (10)

Transcription factor	Regulation	Reference
AR	Activation	22334658
BRCA1	Activation	11782371
BRCA1	Unknown	11405179
CREBBP	Unknown	15154850
EGR1	Activation	18798221;20414733
EGR1	Unknown	15635605
FLI1	Unknown	24058639
MYC	Unknown	12776737
NUPR1	Unknown	22858377
PML	Activation	18809579

191

Show/Hide all (191)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10733570
GO:0000123	Component	Histone acetyltransferase complex	IBA
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000785	Component	Chromatin	IDA	21084751
GO:0001221	Function	Transcription coregulator binding	IPI	8684459
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001223	Function	Transcription coactivator binding	IPI	11349124
GO:0001666	Process	Response to hypoxia	IDA	9887100, 15261140
GO:0001666	Process	Response to hypoxia	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001966	Process	Thigmotaxis	IEA
GO:0002039	Function	P53 binding	IEA
GO:0002209	Process	Behavioral defense response	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003677	Function	DNA binding	IDA	9194565
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	24939902, 25818647
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	IMP	17641689
GO:0003684	Function	Damaged DNA binding	IDA	24939902
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	10518217, 12435739, 12586840, 12609999, 12929931, 15261140, 16257975, 16687403, 17641689, 18487222
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	11349124, 11940591
GO:0003713	Function	Transcription coactivator activity	IPI	23811396
GO:0003713	Function	Transcription coactivator activity	TAS	10362258
GO:0004402	Function	Histone acetyltransferase activity	IBA
GO:0004402	Function	Histone acetyltransferase activity	IDA	12040021, 14645221, 25818647
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	TAS	10362258
GO:0004468	Function	L-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor	IDA	20019387
GO:0005515	Function	Protein binding	IDA	17150957, 26983400
GO:0005515	Function	Protein binding	IPI	1331501, 8684459, 9018065, 9194564, 9194565, 9811832, 9881977, 9887100, 10049825, 10330164, 10518217, 10702269, 10722728, 11029584, 11073990, 11430825, 11511361, 11581164, 11909954, 11940591, 11940655, 12368347, 12435739, 12527917, 12586840, 12743606, 12750254, 12929931, 14645221, 14
GO:0005634	Component	Nucleus	IDA	9194565, 12929931, 14645221, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	12929931
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	12929931
GO:0005829	Component	Cytosol	IDA
GO:0006094	Process	Gluconeogenesis	IDA	30193097
GO:0006096	Process	Glycolytic process	IDA	20847263
GO:0006110	Process	Regulation of glycolytic process	IDA	29775581
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006473	Process	Protein acetylation	IDA	21030595, 24939902
GO:0006475	Process	Internal protein amino acid acetylation	IDA	18722353
GO:0006915	Process	Apoptotic process	IMP	9194565
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	23811396
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	8272873
GO:0007399	Process	Nervous system development	TAS	10205054, 27256286
GO:0007507	Process	Heart development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0007623	Process	Circadian rhythm	ISS
GO:0008013	Function	Beta-catenin binding	IPI	12408825
GO:0008270	Function	Zinc ion binding	IEA
GO:0008610	Process	Lipid biosynthetic process	IDA	21084751
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010484	Function	Histone H3 acetyltransferase activity	IDA	12609999, 27256286
GO:0010485	Function	Histone H4 acetyltransferase activity	IDA	10821277, 12609999
GO:0010485	Function	Histone H4 acetyltransferase activity	IMP	16325578
GO:0010506	Process	Regulation of autophagy	TAS	24852146
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010821	Process	Regulation of mitochondrion organization	IEA
GO:0010821	Process	Regulation of mitochondrion organization	ISS
GO:0010976	Process	Positive regulation of neuron projection development	IDA	27256286
GO:0016407	Function	Acetyltransferase activity	EXP	12456660, 16135789, 20228809
GO:0016407	Function	Acetyltransferase activity	IDA	18722353, 21084751, 23811396, 24939902
GO:0016407	Function	Acetyltransferase activity	IEA
GO:0016407	Function	Acetyltransferase activity	IMP	12435739
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IDA	17403783
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	9862959
GO:0018076	Process	N-terminal peptidyl-lysine acetylation	IDA	12435739
GO:0018393	Process	Internal peptidyl-lysine acetylation	IDA	17403783
GO:0030183	Process	B cell differentiation	IEA
GO:0030220	Process	Platelet formation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	25514493
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	23962722
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031648	Process	Protein destabilization	IEA
GO:0031648	Process	Protein destabilization	IMP	24939902
GO:0031669	Process	Cellular response to nutrient levels	IDA	32561715
GO:0031669	Process	Cellular response to nutrient levels	IDA	32561715
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0032460	Process	Negative regulation of protein oligomerization	IMP	23962722
GO:0032991	Component	Protein-containing complex	IEA
GO:0032993	Component	Protein-DNA complex	ISS	10362258
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0034644	Process	Cellular response to UV	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035855	Process	Megakaryocyte development	IEA
GO:0035987	Process	Endodermal cell differentiation	IDA	32895492
GO:0036268	Process	Swimming	IEA
GO:0038202	Process	TORC1 signaling	IDA	12087098, 12150926
GO:0038203	Process	TORC2 signaling	IDA	21343617, 29424687
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	24120661
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	17403783
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	28147277
GO:0043627	Process	Response to estrogen	IDA	11581164
GO:0043923	Process	Host-mediated activation of viral transcription	IDA	16687403
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IDA	21131905
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IEA
GO:0044013	Function	Histone H2B acetyltransferase activity	IDA	10821277
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IDA	21131905
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IEA
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IMP	32691935
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045721	Process	Negative regulation of gluconeogenesis	IDA	30193097
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IDA	25818647, 27256286
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15261140
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	TAS	27256286
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22901803, 24120661, 32895492
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12586840, 15653507, 16285960, 18722353, 18782771, 21131905, 23811396
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16325578, 32691935
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	16257975
GO:0046872	Function	Metal ion binding	IEA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048511	Process	Rhythmic process	IEA
GO:0050681	Function	Nuclear androgen receptor binding	IPI	18487222
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0051059	Function	NF-kappaB binding	IPI	23811396
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IDA	25818647
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	9094314
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	12408825
GO:0060325	Process	Face morphogenesis	IEA
GO:0060765	Process	Regulation of androgen receptor signaling pathway	IDA	18487222
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19071119, 20018936, 23329847
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	15653507, 15919823, 16285960, 18782771, 22084251, 23962722, 24120661, 28262505, 30193097, 30197302, 32561715
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0061733	Function	Protein-lysine-acetyltransferase activity	TAS
GO:0061920	Function	Protein propionyltransferase activity	IDA	17267393
GO:0061920	Function	Protein propionyltransferase activity	IEA
GO:0061921	Process	Peptidyl-lysine propionylation	IDA	17267393
GO:0071168	Process	Protein localization to chromatin	IDA	28262505
GO:0071233	Process	Cellular response to L-leucine	IDA	30197302, 32561715
GO:0072350	Process	Tricarboxylic acid metabolic process	IDA	30193097
GO:0072540	Process	T-helper 17 cell lineage commitment	TAS	27893700
GO:0090043	Process	Regulation of tubulin deacetylation	IDA	18722353
GO:0097157	Function	Pre-mRNA intronic binding	IEA
GO:0097677	Function	STAT family protein binding	IPI	26479788
GO:0106226	Function	Peptide 2-hydroxyisobutyryltransferase activity	IEA
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IEA
GO:0120301	Function	Histone lactyltransferase (CoA-dependent) activity	IDA	31645732
GO:0140033	Function	Acetylation-dependent protein binding	IDA	18782771
GO:0140064	Function	Peptide crotonyltransferase activity	IEA
GO:0140065	Function	Peptide butyryltransferase activity	IDA	17267393, 29775581
GO:0140065	Function	Peptide butyryltransferase activity	IEA
GO:0140066	Process	Peptidyl-lysine crotonylation	IDA	25818647
GO:0140067	Process	Peptidyl-lysine butyrylation	IDA	17267393, 29775581
GO:0140068	Function	Histone crotonyltransferase activity	IDA	25818647
GO:0140069	Function	Histone butyryltransferase activity	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15261140, 15674325, 20590529
GO:0140566	Function	Histone reader activity	IDA	21131905
GO:0140908	Function	Histone H3K122 acetyltransferase activity	IDA	23415232
GO:1900034	Process	Regulation of cellular response to heat	IEA
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	30197302, 32561715
GO:1904515	Process	Positive regulation of TORC2 signaling	IDA	22084251
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	IDA	28262505
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	IDA	28262505

MIM	HGNC	e!Ensembl
602700	3373	ENSG00000100393

Q09472

Protein name

Histone acetyltransferase p300 (p300 HAT) (EC 2.3.1.48) (E1A-associated protein p300) (Histone butyryltransferase p300) (EC 2.3.1.-) (Histone crotonyltransferase p300) (EC 2.3.1.-) (Protein 2-hydroxyisobutyryltransferase p300) (EC 2.3.1.-) (Protein lactyl

Protein 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)

PDB

1L3E , 1P4Q , 2K8F , 2MH0 , 2MZD , 3BIY , 3I3J , 3IO2 , 3P57 , 3T92 , 4BHW , 4PZR , 4PZS , 4PZT , 5BT3 , 5KJ2 , 5LKT , 5LKU , 5LKX , 5LKZ , 5LPK , 5LPM , 5NU5 , 5XZC , 6DS6 , 6FGN , 6FGS , 6GYR , 6GYT , 6K4N , 6PF1 , 6PGU , 6V8B , 6V8K , 6V8N , 6V90 , 7LJE , 7QGS , 7SS8 , 7SSK , 7SZQ , 7UGI , 7VHY , 7VHZ , 7VI0 , 7W9V , 7XEZ , 7XFG , 8E1D , 8FVF , 8GZC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02135	zf-TAZ	338 → 414	TAZ zinc finger	Family
PF02172	KIX	566 → 646	KIX domain	Domain
PF00439	Bromodomain	1058 → 1144	Bromodomain	Domain
PF06001	DUF902	1156 → 1195	Domain of Unknown Function (DUF902)	Domain
PF08214	HAT_KAT11	1306 → 1612	Histone acetylation protein	Domain
PF00569	ZZ	1664 → 1705	Zinc finger, ZZ type	Domain
PF02135	zf-TAZ	1735 → 1806	TAZ zinc finger	Family
PF09030	Creb_binding	1990 → 2098	Creb binding	Domain

Sequence

MAENVVEPGPPSAKRPKLSSPALSASASDGTDFGSLFDLEHDLPDELINSTELGLTNGGD
INQLQTSLGMVQDAASKHKQLSELLRSGSSPNLNMGVGGPGQVMASQAQQSSPGLGLINS
MVKSPMTQAGLTSPNMGMGTSGPNQGPTQSTGMMNSPVNQPAMGMNTGMNAGMNPGMLAA
GNGQGIMPNQVMNGSIGAGRGRQNMQYPNPGMGSAGNLLTEPLQQGSPQMGGQTGLRGPQ
PLKMGMMNNPNPYGSPYTQNPGQQIGASGLGLQIQTKTVLSNNLSPFAMDKKAVPGGGMP
NMGQQPAPQVQQPGLVTPVAQGMGSGAHTADPEKRKLIQQQLVLLLHAHKCQRREQANGE
VRQCNLPHCRTMKNVLNHMTHCQSGKSCQVAHCASSRQIISHWKNCTRHDCPVCLPLKNA
GDKRNQQPILTGAPVGLGNPSSLGVGQQSAPNLSTVSQIDPSSIERAYAALGLPYQVNQM
PTQPQVQAKNQQNQQPGQSPQGMRPMSNMSASPMGVNGGVGVQTPSLLSDSMLHSAINSQ
NPMMSENASVPSLGPMPTAAQPSTTGIRKQWHEDITQDLRNHLVHKLVQAIFPTPDPAAL
KDRRMENLVAYARKVEGDMYESANNRAEYYHLLAEKIYKIQKELEEKRRTRLQKQNMLPN
AAGMVPVSMNPGPNMGQPQPGMTSNGPLPDPSMIRGSVPNQMMPRITPQSGLNQFGQMSM
AQPPIVPRQTPPLQHHGQLAQPGALNPPMGYGPRMQQPSNQGQFLPQTQFPSQGMNVTNI
PLAPSSGQAPVSQAQMSSSSCPVNSPIMPPGSQGSHIHCPQLPQPALHQNSPSPVPSRTP
TPHHTPPSIGAQQPPATTIPAPVPTPPAMPPGPQSQALHPPPRQTPTPPTTQLPQQVQPS
LPAAPSADQPQQQPRSQQSTAASVPTPTAPLLPPQPATPLSQPAVSIEGQVSNPPSTSST
EVNSQAIAEKQPSQEVKMEAKMEVDQPEPADTQPEDISESKVEDCKMESTETEERSTELK
TEIKEEEDQPSTSATQSSPAPGQSKKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVD
PQLLGIPDYFDIVKSPMDLSTIKRKLDTGQYQEPWQYVDDIWLMFNNAWLYNRKTSRVYK
YCSKLSEVFEQEIDPVMQSLGYCCGRKLEFSPQTLCCYGKQLCTIPRDATYYSYQNRYHF
CEKCFNEIQGESVSLGDDPSQPQTTINKEQFSKRKNDTLDPELFVECTECGRKMHQICVL
HHEIIWPAGFVCDGCLKKSARTRKENKFSAKRLPSTRLGTFLENRVNDFLRRQNHPESGE
VTVRVVHASDKTVEVKPGMKARFVDSGEMAESFPYRTKALFAFEEIDGVDLCFFGMHVQE
YGSDCPPPNQRRVYISYLDSVHFFRPKCLRTAVYHEILIGYLEYVKKLGYTTGHIWACPP
SEGDDYIFHCHPPDQKIPKPKRLQEWYKKMLDKAVSERIVHDYKDIFKQATEDRLTSAKE
LPYFEGDFWPNVLEESIKELEQEEEERKREENTSNESTDVTKGDSKNAKKKNNKKTSKNK
SSLSRGNKKKPGMPNVSNDLSQKLYATMEKHKEVFFVIRLIAGPAANSLPPIVDPDPLIP
CDLMDGRDAFLTLARDKHLEFSSLRRAQWSTMCMLVELHTQSQDRFVYTCNECKHHVETR
WHCTVCEDYDLCITCYNTKNHDHKMEKLGLGLDDESNNQQAAATQSPGDSRRLSIQRCIQ
SLVHACQCRNANCSLPSCQKMKRVVQHTKGCKRKTNGGCPICKQLIALCCYHAKHCQENK
CPVPFCLNIKQKLRQQQLQHRLQQAQMLRRRMASMQRTGVVGQQQGLPSPTPATPTTPTG
QQPTTPQTPQPTSQPQPTPPNSMPPYLPRTQAAGPVSQGKAAGQVTPPTPPQTAQPPLPG
PPPAAVEMAMQIQRAAETQRQMAHVQIFQRPIQHQMPPMTPMAPMGMNPPPMTRGPSGHL
EPGMGPTGMQQQPPWSQGGLPQPQQLQSGMPRPAMMSVAQHGQPLNMAPQPGLGQVGISP
LKPGTVSQQALQNLLRTLRSPSSPLQQQQVLSILHANPQLLAAFIKQRAAKYANSNPQPI
PGQPGMPQGQPGLQPPTMPGQQGVHSNPAMQNMNPMQAGVQRAGLPQQQPQQQLQPPMGG
MSPQAQQMNMNHNTMPSQFRDILRRQQMMQQQQQQGAGPGIGPGMANHNQFQQPQGVGYP
PQQQQRMQHHMQQMQQGNMGQIGQLPQALGAEAGASLQAYQQRLLQQQMGSPVQPNPMSP
QQHMLPNQAQSPHLQGQQIPNSLSNQVRSPQPVPSPRPQSQPPHSSPSPRMQPQPSPHHV
SPQTSSPHPGLVAAQANPMEQGHFASPDQNSMLSQLASNPGMANLHGASATDLGLSTDNS
DLNSNLSQSTLDIH

Sequence length

2414

Interactions

View interactions

1909

Show/Hide Causal Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carcinoma of colon	Pathogenic	rs137853038, rs28937578	RCV000007283 RCV000007284
Cervical cancer	Likely pathogenic; Pathogenic	rs2059103511	RCV005911374
CHARGE syndrome	Likely pathogenic; Pathogenic	rs1555910114	RCV001034552
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs2145713819	RCV005935010
Colorectal cancer	Likely pathogenic; Pathogenic	rs886037664, rs2145762711, rs1057517732, rs2058974109	RCV002477332 RCV002249937 RCV002249938 RCV001222700
Colorectal carcinoma	Pathogenic	rs1569118537, rs2058879988	RCV002245602 RCV002245878
EP300-related disorder	Likely pathogenic; Pathogenic	rs2059103511, rs769721953, rs139310551, rs2145747771, rs2517821051, rs2145697142, rs2517806728, rs2517826886, rs2517832142, rs1057517732, rs1555910821	RCV005256819 RCV004741275 RCV004551377 RCV003399756 RCV003414091 RCV003416899 RCV003893708 RCV003894379 RCV003969644 RCV003401394 RCV003401414
intellectual deficiency	Likely pathogenic	rs1057519012	RCV000415048
Intellectual disability	Likely pathogenic; Pathogenic	rs1555910821, rs2059176668	RCV001260706 RCV001260707
Lung cancer	Pathogenic	rs1555911574	RCV005931382
Menke-Hennekam syndrome 2	Likely pathogenic; Pathogenic	rs886037664, rs797045560, rs2517801658, rs2145512909, rs2518115992, rs1569120903, rs1569120910, rs2059220693	RCV002477332 RCV005414323 RCV003326698 RCV003330153 RCV004586381 RCV000757970 RCV000757971 RCV001250421
Microcephaly	Likely pathogenic; Pathogenic	rs1057519012, rs2058919680	RCV000415048 RCV001252694
Multiple congenital anomalies	Likely pathogenic; Pathogenic	rs1057517732	RCV000509054
Neoplasm	Pathogenic	rs2517797752	RCV004673903
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs886037664, rs2145513922	RCV002273956 RCV002274337
Rare genetic intellectual disability	Likely pathogenic	rs2145766541	RCV001257015
Rubinstein-Taybi syndrome	Pathogenic	rs2059050320	RCV001195547
Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic; Pathogenic	rs886037664, rs565779970, rs2059047949, rs1555910114, rs1601621506, rs1601628237, rs1601629319, rs1601636935, rs2059210417	RCV002477332 RCV000990451 RCV003127285 RCV000578180 RCV000856773 RCV000990453 RCV000990454 RCV000990456 RCV001261286
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Pathogenic; Likely pathogenic	rs2059021664, rs2145756375, rs2145697647, rs2145765098, rs2059103511, rs2145759333, rs1379274045, rs2145516079, rs2145736063, rs2145715677, rs2145519321, rs1340981566, rs2145754777, rs2145512052, rs886043598 View all (94 more)	RCV001331931 RCV002550246 RCV002550279 RCV003104062 RCV002250763 RCV001775296 RCV001775377 RCV001775441 RCV002471160 RCV001787311 RCV001809083 RCV002548926 RCV003107871 RCV002560534 RCV002550364 RCV000125469 RCV002551640 RCV002561375 RCV002052097 RCV002251178 RCV002271904 RCV002283605 RCV002287601 RCV002287605 RCV002291118 RCV002302434 RCV000162342 RCV002465381 RCV003104223 RCV002810649 RCV002834718 RCV002871815 RCV000194142 RCV000193166 RCV002894592 RCV002957656 RCV003047471 RCV003048721 RCV001255736 RCV000007285 RCV000007286 RCV000007288 RCV000416791 RCV000223783 RCV003126402 RCV003153181 RCV000236044 RCV003219189 RCV000490768 RCV000490788 RCV000490787 RCV000490773 RCV000508685 RCV003313824 RCV003319567 RCV003336619 RCV003525771 RCV003526800 RCV003527458 RCV003639845 RCV003640142 RCV003838138 RCV003836958 RCV003985170 RCV004586381 RCV004595403 RCV000433095 RCV000454987 RCV000439427 RCV000023210 RCV000505193 RCV000505218 RCV000509055 RCV000576254 RCV003638681 RCV002530499 RCV005414523 RCV000677431 RCV000677692 RCV002245602 RCV000824847 RCV000825020 RCV000850393 RCV000850550 RCV002549746 RCV001002776 RCV001007889 RCV001027429 RCV001027430 RCV001027431 RCV001027432 RCV001027433 RCV001027434 RCV001027435 RCV001027436 RCV001027437 RCV001027438 RCV001027441 RCV002555869 RCV002552580 RCV001171509 RCV002245878 RCV001222700 RCV002564060 RCV002563143 RCV001251112 RCV001262415 RCV001269285 RCV001289467
See cases	Pathogenic; Likely pathogenic	rs2517835557, rs1555910821	RCV002287696 RCV002252119
Squamous cell carcinoma of the head and neck	Likely pathogenic; Pathogenic	rs2059103511	RCV005911373
Uterine corpus endometrial carcinoma	Pathogenic	rs1555911098	RCV005900083

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant cerebellar ataxia	Likely benign	rs539635560	RCV001849226
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs757931697	RCV005868007
Clear cell carcinoma of kidney	Benign	rs20553	RCV005888127
Corpus callosum, agenesis of	Uncertain significance	rs1555908795	RCV000626809
Developmental and epileptic encephalopathy, 18	Conflicting classifications of pathogenicity	rs775368605	RCV000509248
Epileptic encephalopathy	Uncertain significance	rs1555908795	RCV000626809
Facial grimacing	Likely benign	rs1057518835	RCV000415099
Feeding difficulties	Likely benign	rs1057518835	RCV000415099
Gastric cancer	Uncertain significance; -	rs759604286, rs2145769929, rs2145715940, rs747710183	RCV005922508 RCV005922650 RCV005929956 RCV005869333
Global developmental delay	Likely benign	rs1057518835	RCV000415099
Hepatoblastoma	Conflicting classifications of pathogenicity	rs887226313	RCV001843903
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs763860567	RCV001374526
Malignant lymphoma, large B-cell, diffuse	Benign	rs2076580, rs6002271	RCV005922133 RCV005886301
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity; -	rs747710183, rs757931697, rs2145770572, rs75752076	RCV005868235 RCV005868006 RCV005931092 RCV005904407
Malignant tumor of urinary bladder	-	rs1057519889	RCV006167144
Micrognathia	Likely benign	rs1057518835	RCV000415099
Multicystic kidney dysplasia	Conflicting classifications of pathogenicity	rs750740148	RCV001254709
Neurodevelopmental disorder	Uncertain significance	rs2145747224, rs1268191227	RCV001374956 RCV001374951
Thumb deformity	Likely benign	rs1057518835	RCV000415099

Show/Hide Text Mining Associations (201)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33846793, 38256128
Adrenal Insufficiency	Stimulate	37162176
Alopecia	Associate	40421630
Alzheimer Disease	Inhibit	27480489
Alzheimer Disease	Associate	33083483, 38002954
Androgen Insensitivity Syndrome	Associate	22334658
Anemia Aplastic	Stimulate	35274786
Anemia Hemolytic	Associate	35731275
Anorectal Malformations	Associate	36474027
Aortic Aneurysm Abdominal	Associate	26767057
Aortic Dissection	Associate	33083483
Arrhythmogenic Right Ventricular Dysplasia	Associate	34132777
Arthritis Rheumatoid	Associate	29217191, 31178673
Atherosclerosis	Stimulate	31565149
Atrophy	Associate	17125594
Autistic Disorder	Associate	28973307
Bone Diseases Metabolic	Associate	31882850
Breast Neoplasms	Associate	19047049, 22002538, 26229107, 28341962, 28887413, 30420728, 30597111, 30606771, 30867030, 33417085, 35732329, 36826464, 39192221, 39780215
Breast Neoplasms	Inhibit	30862505
Carcinogenesis	Associate	23408876, 24063517, 28939763, 30050056, 30910803, 30986748, 35247260
Carcinoma Hepatocellular	Associate	21205329, 22459148, 33783990, 35504805, 36669583
Carcinoma Non Small Cell Lung	Associate	22992725, 29879950, 36117234, 37548102
Carcinoma Pancreatic Ductal	Associate	23696899, 35184402, 37696842
Carcinoma Renal Cell	Associate	23029358, 29506494, 29632619, 36311770, 36367018, 39362887
Carcinoma Small Cell	Associate	24551300
Carcinoma Transitional Cell	Associate	21822268, 36647005
Cardiomyopathy Hypertrophic	Associate	35173540
Cardiovascular Diseases	Associate	37415103
Central Nervous System Neoplasms	Associate	38216991
Cerebellar Diseases	Associate	30789376
Cerebral Infarction	Associate	34699043
Cognition Disorders	Associate	34071322, 34314911
Colitis Ulcerative	Associate	28751935
Colonic Diseases	Associate	28179590
Colonic Neoplasms	Associate	17720775, 28341962, 36180906, 36246978
Colorectal Neoplasms	Associate	14732695, 15123817, 17720775, 21209843, 23737956, 28068431, 30214631, 30446877, 32140074, 34572494, 35801925, 36434686, 36520636
Colorectal Neoplasms	Stimulate	24948597
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15706485
Corneal Neovascularization	Associate	27808477
Coronary Artery Disease	Associate	34565095
COVID 19	Associate	34031419, 35231079
Coxa Magna	Associate	38204239
Cysts	Associate	31718213
Death Sudden Cardiac	Associate	34132777
Depressive Disorder	Associate	17927689
Developmental Disabilities	Associate	22287508, 36385105, 36797748, 40421630
Diabetes Mellitus	Associate	28886276
Diabetes Mellitus Type 2	Associate	19843526
Diabetic Nephropathies	Associate	38027201, 38374020
DiGeorge Syndrome	Associate	31830774
Disease	Associate	32759223
Disease Resistance	Associate	20856196
Drug Related Side Effects and Adverse Reactions	Associate	11046153, 15451459, 16263418, 28853863
Dysplastic Nevus Syndrome	Associate	24098694
Encephalitis Herpes Simplex	Associate	35670379
Endometrial Hyperplasia	Associate	14601091
Endometrial Neoplasms	Associate	14601091, 15806138, 22876322, 24042437
Ependymoma	Associate	25909290, 38216991
Epidermodysplasia Verruciformis	Associate	16912319
Epilepsy	Associate	24959624
Esophageal Squamous Cell Carcinoma	Associate	17965222, 28939763, 33725708, 35760875, 39748249
Fatty Liver	Associate	28853863
Fibrosis	Associate	35909658
Frontotemporal Dementia	Associate	28004582
Fused Kidney	Associate	15851483
Gastroesophageal Reflux	Associate	35266289
Glioblastoma	Associate	21489305, 33577785
Glioma	Associate	25996283, 26972001, 27956703, 34784299, 36261421, 39780215
Glomerulonephritis	Stimulate	17125594, 25026939
Granuloma	Stimulate	31718213
Growth Disorders	Associate	35266289
Growth Disorders	Stimulate	37162176
Growth Hormone Secreting Pituitary Adenoma	Associate	35247260
Heart Defects Congenital	Associate	35266289
Heart Diseases	Associate	25325435, 36834924
Heart Failure	Associate	36834924
Heart Septal Defects Ventricular	Associate	23899608
Heart Valve Diseases	Stimulate	35563689
Helicobacter Infections	Inhibit	22867947
Hemangioma capillary infantile	Associate	36181115
Hematologic Neoplasms	Associate	30110629
Hepatoblastoma	Associate	16636310
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35893033
Hereditary pancreatitis	Associate	15217503
Hirschsprung Disease	Associate	26879676
Hyperinsulinism	Associate	33442921
Hypoxia	Associate	11278891, 17699105, 20442290, 22402494, 31072398, 37816914, 8917528
Hypoxia	Stimulate	23756865
Hypoxia Brain	Associate	18174379, 21925214, 24042437, 8917528
Immunologic Deficiency Syndromes	Associate	37162176
Infections	Associate	11909956, 25525796
Inflammation	Associate	19915063, 21470430, 25125658, 26071554, 32140068, 34044126, 35409338, 36042612, 37172591, 37816914
Inflammatory Bowel Diseases	Associate	26764183
Intellectual Disability	Associate	29506490, 29883886, 37162176, 38553851
Kidney Diseases	Associate	17125594, 20199187
Kidney Failure Chronic	Associate	31929749
Kidney Neoplasms	Associate	39780215
Kimura Disease	Associate	17125594
Language Development Disorders	Associate	29506490, 37162176
Learning Disabilities	Associate	27964710, 29506490
Leukemia	Associate	22972988, 25928846, 28053092, 28425985, 29884215, 31735627, 33527899, 35768562, 36913305, 40421630
Leukemia	Stimulate	27428428
Leukemia Biphenotypic Acute	Associate	29531323, 32980888
Leukemia Lymphoma Adult T Cell	Associate	30104217
Leukemia Myeloid Acute	Associate	22371884, 22923494, 26293203, 30637949, 33527899, 34663789, 37055414, 37505185, 9389684
Leukoencephalopathy Progressive Multifocal	Associate	25791343
Liposarcoma	Associate	29784880
Lung Neoplasms	Associate	23523631, 28296173, 28592245, 28754957, 34121659, 37060831, 38256128
Lung Neoplasms	Inhibit	31223286
Lupus Erythematosus Systemic	Associate	11238674
Lupus Nephritis	Associate	17125594
Lymphatic Metastasis	Associate	30862505
Lymphoma	Inhibit	26731516
Lymphoma	Associate	29884215, 33399078, 40421630
Lymphoma B Cell	Associate	31292115, 31533053, 33911074
Lymphoma Follicular	Associate	22585168, 34649275
Lymphoma Large B Cell Diffuse	Associate	24529102, 27003102, 28302137, 31669559, 33911074, 36599133
Lymphoma Primary Effusion	Associate	32553609, 34857874
Lymphoma T Cell	Associate	24345752
Lymphoma T Cell Peripheral	Associate	30307363
Malocclusion Angle Class III	Associate	34039391
Melanoma	Associate	23698071, 24098694, 24893747, 25000190, 25675294, 30657954, 30910803, 35294533, 35835335, 38030596
Menkes Kinky Hair Syndrome	Associate	35670379, 36797748, 38553851, 40421630
Microcephaly	Associate	29506490
Microsatellite Instability	Associate	14732695
Midline granulomatosis	Associate	24736545, 28484033, 32366905
Mouth Neoplasms	Associate	26980735, 29037125
Mucocutaneous Lymph Node Syndrome	Inhibit	25025381
Multiple Myeloma	Associate	26731516, 27903272, 31536933, 35870987, 36121114, 38085608
Myasthenia Gravis	Associate	25705681
Myelodysplastic Syndromes	Associate	34663789
Myopia	Associate	37085840
Nasopharyngeal Carcinoma	Associate	22647238, 32769887
Neoplasm Invasiveness	Associate	28970362
Neoplasm Metastasis	Associate	17965222, 22647238, 26944191, 28341962, 29474635, 29879950, 38030596, 39233667
Neoplasm Metastasis	Stimulate	29262808
Neoplasm Metastasis	Inhibit	30862505
Neoplasms	Inhibit	10906119, 15217503, 24622842, 27903272, 28341962, 30050056, 30862505, 32523042, 37767768
Neoplasms	Associate	11046153, 11782467, 12379484, 14732695, 15451459, 15533934, 15965232, 16622451, 16638127, 17965222, 18174379, 18243116, 18459105, 20210796, 21205329 View all (57 more)
Neoplasms	Stimulate	29262808
Neoplasms Cystic Mucinous and Serous	Associate	23104009
Neural Tube Defects	Associate	30789376
Neuroblastoma	Associate	34772733, 36708875
Neuromuscular Junction Diseases	Associate	30789376
Neurotoxicity Syndromes	Associate	20578042
Non alcoholic Fatty Liver Disease	Associate	34828420
Non Muscle Invasive Bladder Neoplasms	Associate	33388091, 39513266
Oncogene Addiction	Stimulate	30862505
Osteitis Deformans	Associate	39233667
Osteoarthritis	Associate	32140068
Ovarian Neoplasms	Associate	21056906
Pancreatic Neoplasms	Associate	27322077, 32655498, 35536676, 36932397, 37696842
Parkinson Disease	Associate	28973307
Periapical Diseases	Associate	31718213
Periapical Granuloma	Associate	31718213
Peripheral Nervous System Diseases	Associate	37248406
Pituitary Neoplasms	Associate	35247260
Plaque Atherosclerotic	Associate	31565149
Plasmablastic Lymphoma	Associate	33951889
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	26293203, 28425985, 32980888
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	17927689, 22237106, 40421630
Primary Myelofibrosis	Associate	29115418
Prostatic Neoplasms	Associate	18459105, 18497079, 19164447, 22174411, 25125658, 26944191, 29970661, 30606771, 31097763, 31951590, 32203167, 32523042, 33495313, 33705753, 36871351, 37478850, 39780215 View all (2 more)
Prostatic Neoplasms Castration Resistant	Associate	31951590, 35849143, 36871351, 37477521, 37599359
Prostatitis	Associate	25125658, 37477521
Psychotic Disorders	Associate	21878470
Pulmonary Disease Chronic Obstructive	Associate	34456628, 37373058, 39349929
Radicular Cyst	Associate	31718213
Renal cell carcinoma 1	Associate	15123817
Rothmund Thomson Syndrome	Associate	19299466
Rubinstein Taybi Syndrome	Associate	15706485, 17220215, 17855048, 20717166, 21085895, 21984751, 27964710, 29506490, 29745126, 29883886, 29944992, 30635043, 30806792, 31491690, 31566936 View all (10 more)
Rubinstein Taybi Syndrome	Stimulate	37085840
Sarcoidosis	Stimulate	30946009
Sarcoma Ewing	Associate	14550555, 39367409
Sarcoma Kaposi	Associate	32553609
Sarcoma Myeloid	Associate	37505185
Sarcoma Synovial	Associate	26503545
Schizophrenia	Associate	21878470, 28973307, 31072398
Scleroderma Systemic	Associate	31178673
Small Cell Lung Carcinoma	Associate	24551300
Smooth Muscle Tumor	Associate	37415103
Squamous Cell Carcinoma of Head and Neck	Associate	11173543, 23179937, 23474763, 24789432, 25275298, 30933315, 31422218, 34563788, 36245368
Squamous Cell Carcinoma of Head and Neck	Inhibit	32523042
Status Asthmaticus	Associate	25713319
Status Asthmaticus	Inhibit	33626953
Stomach Neoplasms	Associate	28169308, 35242497, 37415735
Supratentorial Neoplasms	Associate	30514397
Telomeric 22q13 Monosomy Syndrome	Associate	38002941
Thrombocytopenia	Associate	35731275
Thumb deformity	Associate	29506490
Thyroid Cancer Papillary	Stimulate	19223551
Thyroid Cancer Papillary	Associate	34104084
Thyroid Neoplasms	Associate	30069928
Triple Negative Breast Neoplasms	Associate	27491809, 30606771, 36782375, 36826464
Tuberculosis Multidrug Resistant	Associate	20856196
Urethral Neoplasms	Associate	18845648, 21138866, 28678170, 30570744
Urinary Bladder Neoplasms	Associate	27699256, 31223286, 32012118, 36647005, 38273747, 40693457
Uterine Cervical Neoplasms	Associate	24390348
Uterine Cervicitis	Associate	18495195
Virus Diseases	Associate	29194580, 34031419
Wounds and Injuries	Associate	37848382

EP300 (EP300 lysine acetyltransferase)