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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1387
Gene name Gene Name - the full gene name approved by the HGNC.	CREB binding lysine acetyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CREBBP
Synonyms (NCBI Gene) Gene synonyms aliases	CBP, KAT3A, MKHK1, RSTS, RSTS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CBP, MKHK1, RSTS1
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play

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SNP ID	Visualize variation	Clinical significance	Consequence
rs11644721	C>A,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs28937315	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61753381	G>T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121434624	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs121434625	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434626	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs140406003	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141651423	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs141775567	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs143247685	T>A,C	Likely-benign, benign, benign-likely-benign, pathogenic	Coding sequence variant, intron variant, missense variant
rs145988918	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs146049063	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs146168040	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, synonymous variant
rs147688139	A>G,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs149055008	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs149877180	G>A	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs199821421	G>A,T	Likely-pathogenic, likely-benign	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs200782888	C>G,T	Pathogenic	Splice donor variant
rs201062642	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs267606752	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs376814421	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs398124139	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs398124144	G>A	Pathogenic	Coding sequence variant, stop gained
rs398124145	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398124146	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs398124147	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs398124150	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs546554430	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs587783460	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783461	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783463	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783464	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587783465	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783467	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783469	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783470	AG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587783471	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs587783473	GA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587783475	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs587783476	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587783477	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs587783478	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587783479	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783480	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs587783481	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587783482	C>A	Pathogenic	Stop gained, coding sequence variant
rs587783483	C>A,T	Pathogenic	Splice donor variant
rs587783484	T>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs587783485	C>A,T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, intron variant
rs587783486	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587783488	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783489	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783490	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783491	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587783492	A>G	Likely-pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs587783493	G>C,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs587783494	T>C	Likely-pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs587783495	A>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783496	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783497	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783499	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783500	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783502	GAG>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs587783503	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783504	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs587783505	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783506	CGGGGGTGGGG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783507	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783508	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs587783509	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587783510	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs587783511	CGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCA>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs587783515	T>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs587783516	G>T	Pathogenic	Stop gained, coding sequence variant
rs748451307	A>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs760605470	A>C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs763253161	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs778375586	G>A,C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs778448390	C>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs786205495	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs794727124	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs794727391	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797044860	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045037	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045483	->G	Pathogenic	Coding sequence variant, frameshift variant
rs797045484	TGCCCGGAAGAC>GG	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045485	->G	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045486	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs797045487	A>T	Pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs797045488	CTCCTTGCA>TT	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs797045489	G>A	Pathogenic	Coding sequence variant, stop gained
rs797045490	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045491	->AC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs797045492	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs797045494	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs797045495	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs797045496	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045498	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797045499	ACAGGCCTGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797045500	CTGCTGGTGCATGCCAGGCTGGG>-,CTGCTGGTGCATGCCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs797045502	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs867556262	G>A,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs869312714	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886039331	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886039491	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886041048	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs886041286	T>C	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886041468	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886041518	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886041879	C>T	Pathogenic	Splice donor variant
rs1057518498	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518789	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518844	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519207	G>A	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057519884	C>A,T	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs1057520072	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520191	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057520589	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1057520652	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057524802	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064794963	T>C,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795050	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs1064795089	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795628	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795794	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796056	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064796457	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796531	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796948	G>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs1131691326	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1131691988	->AGCGCTG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1159294530	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1302427305	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1354934373	G>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1374436403	T>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1384496494	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1555470631	AAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGC	Likely-pathogenic	Inframe indel, terminator codon variant, stop lost, genic downstream transcript variant, 3 prime UTR variant
rs1555471077	G>C	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555471086	G>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555471098	GCTGGGTGAGA>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555471323	GTGTGCTGGG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555471336	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555471355	->AGGCGGTGCTGGATCTGCTGC	Likely-pathogenic	Inframe insertion, genic downstream transcript variant, coding sequence variant
rs1555471385	TTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCG>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555471394	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555471813	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555471874	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555472931	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555472938	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555473105	G>C	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555473122	CCT>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555473491	C>T	Pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555473499	A>G	Pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555473668	->A	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555473890	AGGGTGATTCTGGC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555475250	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555475352	C>A,T	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs1555476935	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555478331	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555481030	C>A	Pathogenic	Splice acceptor variant
rs1555483689	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1555483716	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555483834	C>A,T	Pathogenic	Splice donor variant
rs1555484797	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555496560	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555496581	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555496732	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567262537	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567262786	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567263114	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567263168	C>T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567263529	C>T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567263724	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567265131	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567265203	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567269316	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567269945	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567272940	A>C,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567276741	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567277287	T>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1567306142	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1567309482	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567316655	CA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567318022	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567331357	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1567386034	TGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGG	Pathogenic	Initiator codon variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1596783639	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1596784310	CGACTTCAGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596784713	CTGCATGGATATCACAGGCCTGGGC>-,CTGCATGGATATCACAGGCCTGGGCCTGCATGGATATCACAGGCCTGGGC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596785514	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786167	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786219	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786512	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596786752	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596787459	TAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1596788162	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596791996	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596793242	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596803811	A>-	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1596804073	->ACA	Pathogenic	Inframe insertion, coding sequence variant, genic downstream transcript variant
rs1596804126	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596805575	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596805792	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596805807	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596805927	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596810419	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1596810435	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1596810465	G>T	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1596812202	G>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1596812256	A>-	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596812290	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1596812306	G>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1596813570	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596813665	C>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1596823180	T>A	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1596834998	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596839714	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596839727	CACTTCTCACAGA>TGATACCTGTCAGCAAGATCACAG	Pathogenic	Coding sequence variant, frameshift variant
rs1596852443	AATGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596852463	GG>TACCAT	Pathogenic	Coding sequence variant, frameshift variant
rs1596852578	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596852670	C>G	Pathogenic	Splice acceptor variant
rs1596852674	T>C	Pathogenic	Splice acceptor variant
rs1596853925	ACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGC>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1596854023	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1596854369	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596856176	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1596856285	AAAGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596856390	G>-	Pathogenic	Coding sequence variant, stop gained
rs1596878700	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1596878921	T>A	Pathogenic	Coding sequence variant, stop gained
rs1596882004	C>A	Pathogenic	Splice donor variant
rs1596882010	C>A	Pathogenic	Coding sequence variant, stop gained
rs1596882124	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1596882629	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1596885651	->GGGCGTGCAC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596885894	CC>A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596886048	->C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596886132	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1596886183	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1596886295	ACTGAGC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596894889	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1596895500	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596895545	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596897799	C>A	Pathogenic	Splice acceptor variant
rs1596908213	CG>A	Pathogenic	Coding sequence variant, stop gained
rs1596909656	A>G	Pathogenic	Splice donor variant
rs1596909791	CCACTT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1596909915	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1596910004	C>T	Pathogenic	Splice acceptor variant
rs1596916327	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596917200	G>C	Pathogenic	Coding sequence variant, stop gained
rs1596920360	C>T	Pathogenic	Splice donor variant
rs1596920501	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596920745	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596944340	CACAATG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596947522	A>T	Pathogenic	Splice donor variant
rs1596947732	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1596947743	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596948052	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596948165	C>A	Pathogenic	Coding sequence variant, stop gained
rs1596984633	->ATATTTGG	Pathogenic	Coding sequence variant, frameshift variant
rs1597053322	GCATGGCTGGAGTAGGGTACGGCATTCCAGCTCCCCT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597053504	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1597053795	ACGTGGCAGGGCTG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597054242	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1597054430	CC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597054662	->TA	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1597054837	TGGAACAAGGTTC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1597099388	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant

Show/Hide all(313)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004683	hsa-miR-324-3p	Luciferase reporter assay	19478946
MIRT051673	hsa-let-7e-5p	CLASH	23622248
MIRT048558	hsa-miR-100-5p	CLASH	23622248
MIRT045961	hsa-miR-125b-5p	CLASH	23622248
MIRT039168	hsa-miR-769-5p	CLASH	23622248
MIRT036676	hsa-miR-935	CLASH	23622248
MIRT035967	hsa-miR-1301-3p	CLASH	23622248
MIRT641523	hsa-miR-4328	HITS-CLIP	23824327
MIRT641522	hsa-miR-5193	HITS-CLIP	23824327
MIRT641521	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT641520	hsa-miR-3183	HITS-CLIP	23824327
MIRT641519	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT641518	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT641517	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT641516	hsa-miR-4264	HITS-CLIP	23824327
MIRT641515	hsa-miR-4641	HITS-CLIP	23824327
MIRT641514	hsa-miR-4268	HITS-CLIP	23824327
MIRT548745	hsa-miR-219a-1-3p	PAR-CLIP	21572407
MIRT548744	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT548743	hsa-miR-4517	PAR-CLIP	21572407
MIRT548742	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT548741	hsa-miR-6512-5p	PAR-CLIP	21572407
MIRT548740	hsa-miR-5680	PAR-CLIP	21572407
MIRT548739	hsa-miR-571	PAR-CLIP	21572407
MIRT548738	hsa-miR-5681b	PAR-CLIP	21572407
MIRT548737	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT548736	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT343552	hsa-miR-543	PAR-CLIP	24398324
MIRT500155	hsa-miR-5586-3p	PAR-CLIP	24398324
MIRT500156	hsa-miR-802	PAR-CLIP	24398324
MIRT500154	hsa-miR-1245a	PAR-CLIP	24398324
MIRT500153	hsa-miR-8079	PAR-CLIP	24398324
MIRT500152	hsa-miR-6729-3p	PAR-CLIP	24398324
MIRT500151	hsa-miR-628-3p	PAR-CLIP	24398324
MIRT500150	hsa-miR-325	PAR-CLIP	24398324
MIRT500149	hsa-miR-517-5p	PAR-CLIP	24398324
MIRT500148	hsa-miR-1251-5p	PAR-CLIP	24398324
MIRT500147	hsa-miR-942-5p	PAR-CLIP	24398324
MIRT500146	hsa-miR-4765	PAR-CLIP	24398324
MIRT500145	hsa-miR-601	PAR-CLIP	24398324
MIRT500144	hsa-miR-3143	PAR-CLIP	24398324
MIRT500143	hsa-miR-4684-5p	PAR-CLIP	24398324
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT440879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT641523	hsa-miR-4328	HITS-CLIP	23824327
MIRT641522	hsa-miR-5193	HITS-CLIP	23824327
MIRT641521	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT641520	hsa-miR-3183	HITS-CLIP	23824327
MIRT641519	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT641518	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT641517	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT641516	hsa-miR-4264	HITS-CLIP	23824327
MIRT641515	hsa-miR-4641	HITS-CLIP	23824327
MIRT641514	hsa-miR-4268	HITS-CLIP	23824327
MIRT548745	hsa-miR-219a-1-3p	PAR-CLIP	21572407
MIRT548744	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT548743	hsa-miR-4517	PAR-CLIP	21572407
MIRT548742	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT548741	hsa-miR-6512-5p	PAR-CLIP	21572407
MIRT548740	hsa-miR-5680	PAR-CLIP	21572407
MIRT548739	hsa-miR-571	PAR-CLIP	21572407
MIRT548738	hsa-miR-5681b	PAR-CLIP	21572407
MIRT548737	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT548736	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT343552	hsa-miR-543	PAR-CLIP	24398324
MIRT500155	hsa-miR-5586-3p	PAR-CLIP	24398324
MIRT500156	hsa-miR-802	PAR-CLIP	24398324
MIRT500154	hsa-miR-1245a	PAR-CLIP	24398324
MIRT500153	hsa-miR-8079	PAR-CLIP	24398324
MIRT500152	hsa-miR-6729-3p	PAR-CLIP	24398324
MIRT500151	hsa-miR-628-3p	PAR-CLIP	24398324
MIRT500150	hsa-miR-325	PAR-CLIP	24398324
MIRT500149	hsa-miR-517-5p	PAR-CLIP	24398324
MIRT500148	hsa-miR-1251-5p	PAR-CLIP	24398324
MIRT500147	hsa-miR-942-5p	PAR-CLIP	24398324
MIRT500146	hsa-miR-4765	PAR-CLIP	24398324
MIRT500145	hsa-miR-601	PAR-CLIP	24398324
MIRT500144	hsa-miR-3143	PAR-CLIP	24398324
MIRT500143	hsa-miR-4684-5p	PAR-CLIP	24398324
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT909031	hsa-miR-1293	CLIP-seq
MIRT909032	hsa-miR-139-3p	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT909035	hsa-miR-2117	CLIP-seq
MIRT909036	hsa-miR-23a	CLIP-seq
MIRT909037	hsa-miR-23b	CLIP-seq
MIRT909038	hsa-miR-23c	CLIP-seq
MIRT909039	hsa-miR-3192	CLIP-seq
MIRT909040	hsa-miR-323-3p	CLIP-seq
MIRT909041	hsa-miR-326	CLIP-seq
MIRT909042	hsa-miR-330-3p	CLIP-seq
MIRT909043	hsa-miR-330-5p	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT909045	hsa-miR-33a	CLIP-seq
MIRT909046	hsa-miR-33b	CLIP-seq
MIRT909047	hsa-miR-340	CLIP-seq
MIRT909048	hsa-miR-3529	CLIP-seq
MIRT909049	hsa-miR-3591-3p	CLIP-seq
MIRT909050	hsa-miR-361-5p	CLIP-seq
MIRT909051	hsa-miR-379	CLIP-seq
MIRT909052	hsa-miR-3919	CLIP-seq
MIRT909053	hsa-miR-4271	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT909056	hsa-miR-4444	CLIP-seq
MIRT909057	hsa-miR-4451	CLIP-seq
MIRT909058	hsa-miR-4483	CLIP-seq
MIRT909059	hsa-miR-4528	CLIP-seq
MIRT909060	hsa-miR-4536	CLIP-seq
MIRT909061	hsa-miR-4650-3p	CLIP-seq
MIRT909062	hsa-miR-4651	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT909065	hsa-miR-4719	CLIP-seq
MIRT909066	hsa-miR-4725-3p	CLIP-seq
MIRT909067	hsa-miR-4731-5p	CLIP-seq
MIRT909068	hsa-miR-4756-3p	CLIP-seq
MIRT909069	hsa-miR-4795-3p	CLIP-seq
MIRT909070	hsa-miR-488	CLIP-seq
MIRT909071	hsa-miR-494	CLIP-seq
MIRT909072	hsa-miR-499-3p	CLIP-seq
MIRT909073	hsa-miR-499a-3p	CLIP-seq
MIRT909074	hsa-miR-516a-5p	CLIP-seq
MIRT909075	hsa-miR-548c-3p	CLIP-seq
MIRT909076	hsa-miR-608	CLIP-seq
MIRT909077	hsa-miR-625	CLIP-seq
MIRT909078	hsa-miR-637	CLIP-seq
MIRT909079	hsa-miR-873	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq
MIRT909081	hsa-miR-1197	CLIP-seq
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT909082	hsa-miR-1245	CLIP-seq
MIRT909083	hsa-miR-129-5p	CLIP-seq
MIRT909032	hsa-miR-139-3p	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT909084	hsa-miR-2964a-3p	CLIP-seq
MIRT909085	hsa-miR-302f	CLIP-seq
MIRT909086	hsa-miR-3140-3p	CLIP-seq
MIRT909039	hsa-miR-3192	CLIP-seq
MIRT909087	hsa-miR-323-5p	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT909045	hsa-miR-33a	CLIP-seq
MIRT909046	hsa-miR-33b	CLIP-seq
MIRT909088	hsa-miR-3653	CLIP-seq
MIRT909089	hsa-miR-3658	CLIP-seq
MIRT909090	hsa-miR-3689d	CLIP-seq
MIRT909091	hsa-miR-4277	CLIP-seq
MIRT909092	hsa-miR-4286	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909093	hsa-miR-4323	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT909094	hsa-miR-4452	CLIP-seq
MIRT909095	hsa-miR-4511	CLIP-seq
MIRT909059	hsa-miR-4528	CLIP-seq
MIRT909096	hsa-miR-4643	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT909097	hsa-miR-4704-5p	CLIP-seq
MIRT909098	hsa-miR-4717-3p	CLIP-seq
MIRT909099	hsa-miR-4758-3p	CLIP-seq
MIRT909100	hsa-miR-4797-5p	CLIP-seq
MIRT909101	hsa-miR-548b-3p	CLIP-seq
MIRT909102	hsa-miR-578	CLIP-seq
MIRT909079	hsa-miR-873	CLIP-seq
MIRT909103	hsa-miR-876-3p	CLIP-seq
MIRT1969374	hsa-miR-548aa	CLIP-seq
MIRT1969375	hsa-miR-1257	CLIP-seq
MIRT1969376	hsa-miR-1343	CLIP-seq
MIRT909032	hsa-miR-139-3p	CLIP-seq
MIRT1969377	hsa-miR-186	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT1969378	hsa-miR-3133	CLIP-seq
MIRT1969379	hsa-miR-3148	CLIP-seq
MIRT909039	hsa-miR-3192	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT1969380	hsa-miR-342-5p	CLIP-seq
MIRT1969381	hsa-miR-3613-3p	CLIP-seq
MIRT1969382	hsa-miR-409-3p	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT909094	hsa-miR-4452	CLIP-seq
MIRT909062	hsa-miR-4651	CLIP-seq
MIRT1969383	hsa-miR-4664-5p	CLIP-seq
MIRT1969384	hsa-miR-4666-3p	CLIP-seq
MIRT1969385	hsa-miR-4667-3p	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT1969386	hsa-miR-4790-3p	CLIP-seq
MIRT909100	hsa-miR-4797-5p	CLIP-seq
MIRT1969374	hsa-miR-548aa	CLIP-seq
MIRT1969387	hsa-miR-548ac	CLIP-seq
MIRT1969388	hsa-miR-548d-3p	CLIP-seq
MIRT1969389	hsa-miR-548z	CLIP-seq
MIRT1969390	hsa-miR-570	CLIP-seq
MIRT1969391	hsa-miR-591	CLIP-seq
MIRT909076	hsa-miR-608	CLIP-seq
MIRT1969392	hsa-miR-653	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq
MIRT2205590	hsa-miR-1226	CLIP-seq
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT2205591	hsa-miR-1251	CLIP-seq
MIRT909083	hsa-miR-129-5p	CLIP-seq
MIRT2205592	hsa-miR-1297	CLIP-seq
MIRT2205593	hsa-miR-147	CLIP-seq
MIRT909033	hsa-miR-200b	CLIP-seq
MIRT909034	hsa-miR-200c	CLIP-seq
MIRT2205594	hsa-miR-2110	CLIP-seq
MIRT909036	hsa-miR-23a	CLIP-seq
MIRT909037	hsa-miR-23b	CLIP-seq
MIRT909038	hsa-miR-23c	CLIP-seq
MIRT2205595	hsa-miR-26a	CLIP-seq
MIRT2205596	hsa-miR-26b	CLIP-seq
MIRT2205597	hsa-miR-300	CLIP-seq
MIRT1969379	hsa-miR-3148	CLIP-seq
MIRT2205598	hsa-miR-3177-5p	CLIP-seq
MIRT909044	hsa-miR-337-3p	CLIP-seq
MIRT2205599	hsa-miR-3650	CLIP-seq
MIRT909088	hsa-miR-3653	CLIP-seq
MIRT909089	hsa-miR-3658	CLIP-seq
MIRT909090	hsa-miR-3689d	CLIP-seq
MIRT2205600	hsa-miR-376c	CLIP-seq
MIRT2205601	hsa-miR-381	CLIP-seq
MIRT2205602	hsa-miR-3908	CLIP-seq
MIRT2205603	hsa-miR-3911	CLIP-seq
MIRT909053	hsa-miR-4271	CLIP-seq
MIRT909091	hsa-miR-4277	CLIP-seq
MIRT909054	hsa-miR-429	CLIP-seq
MIRT909055	hsa-miR-4327	CLIP-seq
MIRT2205604	hsa-miR-4427	CLIP-seq
MIRT2205605	hsa-miR-4455	CLIP-seq
MIRT2205606	hsa-miR-4465	CLIP-seq
MIRT909095	hsa-miR-4511	CLIP-seq
MIRT2205607	hsa-miR-4659a-3p	CLIP-seq
MIRT2205608	hsa-miR-4659b-3p	CLIP-seq
MIRT1969384	hsa-miR-4666-3p	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT2205609	hsa-miR-4680-3p	CLIP-seq
MIRT909064	hsa-miR-4685-5p	CLIP-seq
MIRT909065	hsa-miR-4719	CLIP-seq
MIRT909066	hsa-miR-4725-3p	CLIP-seq
MIRT2205610	hsa-miR-4733-3p	CLIP-seq
MIRT2205611	hsa-miR-4778-3p	CLIP-seq
MIRT909070	hsa-miR-488	CLIP-seq
MIRT909071	hsa-miR-494	CLIP-seq
MIRT2205612	hsa-miR-498	CLIP-seq
MIRT2205613	hsa-miR-520d-5p	CLIP-seq
MIRT2205614	hsa-miR-524-5p	CLIP-seq
MIRT1969374	hsa-miR-548aa	CLIP-seq
MIRT1969387	hsa-miR-548ac	CLIP-seq
MIRT909101	hsa-miR-548b-3p	CLIP-seq
MIRT1969388	hsa-miR-548d-3p	CLIP-seq
MIRT1969389	hsa-miR-548z	CLIP-seq
MIRT2205615	hsa-miR-556-5p	CLIP-seq
MIRT2205616	hsa-miR-576-3p	CLIP-seq
MIRT2205617	hsa-miR-600	CLIP-seq
MIRT2205618	hsa-miR-609	CLIP-seq
MIRT2205619	hsa-miR-634	CLIP-seq
MIRT2205620	hsa-miR-644	CLIP-seq
MIRT2205621	hsa-miR-656	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq
MIRT2386450	hsa-miR-2053	CLIP-seq
MIRT2386451	hsa-miR-374c	CLIP-seq
MIRT2386452	hsa-miR-569	CLIP-seq
MIRT2386453	hsa-miR-595	CLIP-seq
MIRT2386454	hsa-miR-655	CLIP-seq
MIRT2427981	hsa-miR-153	CLIP-seq
MIRT2205594	hsa-miR-2110	CLIP-seq
MIRT2205597	hsa-miR-300	CLIP-seq
MIRT1969379	hsa-miR-3148	CLIP-seq
MIRT2205601	hsa-miR-381	CLIP-seq
MIRT909053	hsa-miR-4271	CLIP-seq
MIRT2427982	hsa-miR-4503	CLIP-seq
MIRT909096	hsa-miR-4643	CLIP-seq
MIRT1969384	hsa-miR-4666-3p	CLIP-seq
MIRT909063	hsa-miR-4668-5p	CLIP-seq
MIRT909066	hsa-miR-4725-3p	CLIP-seq
MIRT909030	hsa-miR-1238	CLIP-seq
MIRT2205591	hsa-miR-1251	CLIP-seq
MIRT2205592	hsa-miR-1297	CLIP-seq
MIRT909036	hsa-miR-23a	CLIP-seq
MIRT909037	hsa-miR-23b	CLIP-seq
MIRT909038	hsa-miR-23c	CLIP-seq
MIRT2205595	hsa-miR-26a	CLIP-seq
MIRT2205596	hsa-miR-26b	CLIP-seq
MIRT909084	hsa-miR-2964a-3p	CLIP-seq
MIRT909085	hsa-miR-302f	CLIP-seq
MIRT909086	hsa-miR-3140-3p	CLIP-seq
MIRT2205600	hsa-miR-376c	CLIP-seq
MIRT2205606	hsa-miR-4465	CLIP-seq
MIRT2205607	hsa-miR-4659a-3p	CLIP-seq
MIRT2205608	hsa-miR-4659b-3p	CLIP-seq
MIRT909097	hsa-miR-4704-5p	CLIP-seq
MIRT2205611	hsa-miR-4778-3p	CLIP-seq
MIRT2205612	hsa-miR-498	CLIP-seq
MIRT909080	hsa-miR-942	CLIP-seq

Transcription factors

Show/Hide all(6)

Transcription factor	Regulation	Reference
CIITA	Unknown	9858618
E2F1	Unknown	9238849
EP300	Unknown	9651310
MYC	Unknown	12776737
YY1	Repression	21852380
YY1	Unknown	9238849

Show/Hide all(68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	21539536
GO:0000123	Component	Histone acetyltransferase complex	IBA	21873635
GO:0000785	Component	Chromatin	IDA	21539536
GO:0001085	Function	RNA polymerase II transcription factor binding	IBA	21873635
GO:0001085	Function	RNA polymerase II transcription factor binding	IPI	21539536
GO:0001102	Function	RNA polymerase II activating transcription factor binding	TAS	11001584
GO:0001666	Process	Response to hypoxia	TAS	15261140
GO:0002039	Function	P53 binding	IPI	9194565
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003682	Function	Chromatin binding	IDA	24939902
GO:0003684	Function	Damaged DNA binding	IDA	24939902
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	IDA	12169688, 12435739, 12586840, 12929931, 14645221
GO:0003713	Function	Transcription coactivator activity	IPI	8684459
GO:0003713	Function	Transcription coactivator activity	TAS	10362258, 11001584
GO:0003714	Function	Transcription corepressor activity	IDA	21539536
GO:0004402	Function	Histone acetyltransferase activity	IBA	21873635
GO:0004402	Function	Histone acetyltransferase activity	IDA	11742995
GO:0004402	Function	Histone acetyltransferase activity	TAS	10362258
GO:0005515	Function	Protein binding	IPI	8684459, 9018065, 9194564, 9323138, 9687513, 9811832, 9887100, 10049825, 10196247, 10347196, 10428834, 10722728, 10722738, 10823891, 10866662, 11568182, 11799127, 11897665, 11940655, 11971985, 12435739, 12482968, 14645221, 14716005, 15075319, 15126506, 15220471, 15273251, 15674325, 1
GO:0005634	Component	Nucleus	IC	12169688
GO:0005634	Component	Nucleus	IDA	12929931
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	12929931
GO:0006355	Process	Regulation of transcription, DNA-templated	TAS	15261140
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0006473	Process	Protein acetylation	IDA	15273251, 24207024, 24939902, 28790157, 30540930
GO:0006473	Process	Protein acetylation	TAS	28386764
GO:0007165	Process	Signal transduction	NAS	15261140
GO:0007219	Process	Notch signaling pathway	TAS
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	TAS
GO:0008134	Function	Transcription factor binding	IPI	15509593
GO:0008270	Function	Zinc ion binding	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	TAS	11001584
GO:0016032	Process	Viral process	IEA
GO:0016407	Function	Acetyltransferase activity	EXP	12456660, 16135789
GO:0016407	Function	Acetyltransferase activity	IDA	11742995, 15273251, 24939902
GO:0016573	Process	Histone acetylation	IBA	21873635
GO:0016573	Process	Histone acetylation	IDA	11742995
GO:0016604	Component	Nuclear body	IDA	15488321
GO:0018076	Process	N-terminal peptidyl-lysine acetylation	IDA	12435739
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	25514493
GO:0031490	Function	Chromatin DNA binding	IBA	21873635
GO:0031648	Process	Protein destabilization	IMP	24939902
GO:0032481	Process	Positive regulation of type I interferon production	TAS
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0042592	Process	Homeostatic process	NAS	15261140
GO:0042733	Process	Embryonic digit morphogenesis	TAS	11001584
GO:0042981	Process	Regulation of apoptotic process	TAS
GO:0043426	Function	MRF binding	IDA	8621548
GO:0045637	Process	Regulation of myeloid cell differentiation	TAS
GO:0045747	Process	Positive regulation of Notch signaling pathway	TAS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11742995
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12169688
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS
GO:0048511	Process	Rhythmic process	IEA
GO:0061418	Process	Regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS
GO:0061733	Function	Peptide-lysine-N-acetyltransferase activity	IDA	24207024, 28790157, 30540930
GO:0065003	Process	Protein-containing complex assembly	TAS	7913207
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:1904837	Process	Beta-catenin-TCF complex assembly	TAS
GO:1990258	Process	Histone glutamine methylation	IDA	30540930

MIM	HGNC	e!Ensembl
600140	2348	ENSG00000005339

Protein

UniProt ID

Q92793

Protein name

CREB-binding protein (Histone lysine acetyltransferase CREBBP) (EC 2.3.1.48) (Protein lactyltransferas CREBBP) (EC 2.3.1.-) (Protein-lysine acetyltransferase CREBBP) (EC 2.3.1.-)

Protein function

Acetylates histones, giving a specific tag for transcriptional activation (PubMed:21131905, PubMed:24616510). Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) (PubMed:21131905). Also acetylates non-

PDB

1JSP , 1LIQ , 1RDT , 1WO3 , 1WO4 , 1WO5 , 1WO6 , 1WO7 , 1ZOQ , 2D82 , 2KJE , 2KWF , 2L84 , 2L85 , 2LXS , 2LXT , 2N1A , 2RNY , 3DWY , 3P1C , 3P1D , 3P1E , 3P1F , 3SVH , 4A9K , 4N3W , 4N4F , 4NR4 , 4NR5 , 4NR6 , 4NR7 , 4NYV , 4NYW , 4NYX , 4OUF , 4TQN , 4TS8 , 4WHU , 4YK0 , 5CGP , 5DBM , 5EIC , 5ENG , 5EP7 , 5GH9 , 5H85 , 5I83 , 5I86 , 5I89 , 5I8B , 5I8G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02135	zf-TAZ	354 → 430	TAZ zinc finger	Family
PF02172	KIX	587 → 667	KIX domain	Domain
PF00439	Bromodomain	1094 → 1180	Bromodomain	Domain
PF06001	DUF902	1192 → 1231	Domain of Unknown Function (DUF902)	Domain
PF08214	HAT_KAT11	1342 → 1649	Histone acetylation protein	Domain
PF00569	ZZ	1701 → 1742	Zinc finger, ZZ type	Domain
PF02135	zf-TAZ	1772 → 1843	TAZ zinc finger	Family
PF09030	Creb_binding	2017 → 2114	Creb binding	Domain

Sequence

MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLV
PDAASKHKQLSELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGK
SPLSQGDSSAPSLPKQAASTSGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNAN
FNQTHPGLLNSNSGHSLINQASQGQAQVMNGSLGAAGRGRGAGMPYPTPAMQGASSSVLA
ETLTQVSPQMTGHAGLNTAQAGGMAKMGITGNTSPFGQPFSQAGGQPMGATGVNPQLASK
QSMVNSLPTFPTDIKNTSVTNVPNMSQMQTSVGIVPTQAIATGPTADPEKRKLIQQQLVL
LLHAHKCQRREQANGEVRACSLPHCRTMKNVLNHMTHCQAGKACQVAHCASSRQIISHWK
NCTRHDCPVCLPLKNASDKRNQQTILGSPASGIQNTIGSVGTGQQNATSLSNPNPIDPSS
MQRAYAALGLPYMNQPQTQLQPQVPGQQPAQPQTHQQMRTLNPLGNNPMNIPAGGITTDQ
QPPNLISESALPTSLGATNPLMNDGSNSGNIGTLSTIPTAAPPSSTGVRKGWHEHVTQDL
RSHLVHKLVQAIFPTPDPAALKDRRMENLVAYAKKVEGDMYESANSRDEYYHLLAEKIYK
IQKELEEKRRSRLHKQGILGNQPALPAPGAQPPVIPQAQPVRPPNGPLSLPVNRMQVSQG
MNSFNPMSLGNVQLPQAPMGPRAASPMNHSVQMNSMGSVPGMAISPSRMPQPPNMMGAHT
NNMMAQAPAQSQFLPQNQFPSSSGAMSVGMGQPPAQTGVSQGQVPGAALPNPLNMLGPQA
SQLPCPPVTQSPLHPTPPPASTAAGMPSLQHTTPPGMTPPQPAAPTQPSTPVSSSGQTPT
PTPGSVPSATQTQSTPTVQAAAQAQVTPQPQTPVQPPSVATPQSSQQQPTPVHAQPPGTP
LSQAAASIDNRVPTPSSVASAETNSQQPGPDVPVLEMKTETQAEDTEPDPGESKGEPRSE
MMEEDLQGASQVKEETDIAEQKSEPMEVDEKKPEVKVEVKEEEESSSNGTASQSTSPSQP
RKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVDPQLLGIPDYFDIVKNPMDLSTIKR
KLDTGQYQEPWQYVDDVWLMFNNAWLYNRKTSRVYKFCSKLAEVFEQEIDPVMQSLGYCC
GRKYEFSPQTLCCYGKQLCTIPRDAAYYSYQNRYHFCEKCFTEIQGENVTLGDDPSQPQT
TISKDQFEKKKNDTLDPEPFVDCKECGRKMHQICVLHYDIIWPSGFVCDNCLKKTGRPRK
ENKFSAKRLQTTRLGNHLEDRVNKFLRRQNHPEAGEVFVRVVASSDKTVEVKPGMKSRFV
DSGEMSESFPYRTKALFAFEEIDGVDVCFFGMHVQEYGSDCPPPNTRRVYISYLDSIHFF
RPRCLRTAVYHEILIGYLEYVKKLGYVTGHIWACPPSEGDDYIFHCHPPDQKIPKPKRLQ
EWYKKMLDKAFAERIIHDYKDIFKQATEDRLTSAKELPYFEGDFWPNVLEESIKELEQEE
EERKKEESTAASETTEGSQGDSKNAKKKNNKKTNKNKSSISRANKKKPSMPNVSNDLSQK
LYATMEKHKEVFFVIHLHAGPVINTLPPIVDPDPLLSCDLMDGRDAFLTLARDKHWEFSS
LRRSKWSTLCMLVELHTQGQDRFVYTCNECKHHVETRWHCTVCEDYDLCINCYNTKSHAH
KMVKWGLGLDDEGSSQGEPQSKSPQESRRLSIQRCIQSLVHACQCRNANCSLPSCQKMKR
VVQHTKGCKRKTNGGCPVCKQLIALCCYHAKHCQENKCPVPFCLNIKHKLRQQQIQHRLQ
QAQLMRRRMATMNTRNVPQQSLPSPTSAPPGTPTQQPSTPQTPQPPAQPQPSPVSMSPAG
FPSVARTQPPTTVSTGKPTSQVPAPPPPAQPPPAAVEAARQIEREAQQQQHLYRVNINNS
MPPGRTGMGTPGSQMAPVSLNVPRPNQVSGPVMPSMPPGQWQQAPLPQQQPMPGLPRPVI
SMQAQAAVAGPRMPSVQPPRSISPSALQDLLRTLKSPSSPQQQQQVLNILKSNPQLMAAF
IKQRTAKYVANQPGMQPQPGLQSQPGMQPQPGMHQQPSLQNLNAMQAGVPRPGVPPQQQA
MGGLNPQGQALNIMNPGHNPNMASMNPQYREMLRRQLLQQQQQQQQQQQQQQQQQQGSAG
MAGGMAGHGQFQQPQGPGGYPPAMQQQQRMQQHLPLQGSSMGQMAAQMGQLGQMGQPGLG
ADSTPNIQQALQQRILQQQQMKQQIGSPGQPNPMSPQQHMLSGQPQASHLPGQQIATSLS
NQVRSPAPVQSPRPQSQPPHSSPSPRIQPQPSPHHVSPQTGSPHPGLAVTMASSIDQGHL
GNPEQSAMLPQLNTPSRSALSSELSLVGDTTGDTLEKFVEGL

Sequence length

2442

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway HIF-1 signaling pathway FoxO signaling pathway Cell cycle Wnt signaling pathway Notch signaling pathway TGF-beta signaling pathway Adherens junction JAK-STAT signaling pathway Long-term potentiation Melanogenesis Thyroid hormone signaling pathway Glucagon signaling pathway Growth hormone synthesis, secretion and action Huntington disease Tuberculosis Hepatitis B Influenza A Human papillomavirus infection Human T-cell leukemia virus 1 infection Kaposi sarcoma-associated herpesvirus infection Pathways in cancer Viral carcinogenesis MicroRNAs in cancer Renal cell carcinoma Prostate cancer		Regulation of gene expression by Hypoxia-inducible Factor RORA activates gene expression Pre-NOTCH Transcription and Translation PPARA activates gene expression Formation of the beta-catenin:TCF transactivating complex NOTCH1 Intracellular Domain Regulates Transcription Transcriptional activation of mitochondrial biogenesis Activation of gene expression by SREBF (SREBP) Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Attenuation phase Notch-HLH transcription pathway Transcriptional regulation of white adipocyte differentiation Regulation of lipid metabolism by PPARalpha Circadian Clock CD209 (DC-SIGN) signaling TP53 Regulates Transcription of Genes Involved in Cytochrome C Release Activation of the TFAP2 (AP-2) family of transcription factors RUNX1 regulates transcription of genes involved in differentiation of myeloid cells RUNX3 regulates NOTCH signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription Estrogen-dependent gene expression TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation Regulation of FOXO transcriptional activity by acetylation

Show/Hide Causal Diseases (42)

Disease term	Disease name	dbSNP ID	References
Causal
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749, 26619011
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733 View all (171 more)	11796754
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	27158780
Carcinoma of the head and neck	Squamous cell carcinoma of the head and neck	rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001 View all (7 more)	26619011
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049 View all (1682 more)	26619011
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	25151357
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)	26619011
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Glioblastoma	Glioblastoma	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	26619011
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Leukemia	leukemia, Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Lung carcinoma	Squamous cell carcinoma of lung, Small cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	26619011, 22941188
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	27158780
Lymphoma	Lymphoma, Follicular, Lymphoma, Large-Cell, Follicular, Lymphoma, Mixed-Cell, Follicular, Lymphoma, Small Cleaved-Cell, Follicular, Lymphoma, Follicular, Grade 1, Lymphoma, Follicular, Grade 3, Lymphoma, Follicular, Grade 2	rs11540652, rs1592119138, rs1592123162, rs1599367044	24362818
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699 View all (13 more)
Medulloblastoma	Medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	26619011
Melanoma	Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)	26619011
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mirror movements	Mirror movements disorder	rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	27342041, 27165009, 26788536, 16783566, 10699051, 12114483, 15706485, 13983033, 26603346, 26956253, 25388907, 27311832, 25599811, 18792986, 16021471, 25108505, 12070251, 27899622 View all (3 more)
Parietal foramina	PARIETAL FORAMINA	rs104894191, rs104894192, rs104894193, rs587776614, rs104894196, rs104894197, rs387906325, rs2113498725, rs104893896, rs121912971, rs121912972, rs1561643060, rs587777700, rs587777702
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	25735316, 15378487
Rubinstein-taybi syndrome	Rubinstein-Taybi Syndrome, RUBINSTEIN-TAYBI SYNDROME 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	rs137853038, rs137853039, rs1569108381, rs1569122847, rs121434624, rs121434625, rs121434626, rs2147483647, rs28937315, rs267606752, rs1567277287, rs1569090642, rs398124145, rs886037664, rs587783511 View all (250 more)	26633545, 12566391, 12930888, 9294190, 16359492, 12070251, 11331617, 26788536, 21932317, 17052327, 18792986, 15706485, 20684013, 25388907, 27311832, 12114483, 24616510 View all (2 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sezary syndrome	Sezary Syndrome	rs587776632	26551667
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (6)

Disease term	Disease name	References	Source
Unknown
Duane retraction syndrome	Duane Retraction Syndrome		ClinVar
Mental depression	Endogenous depression	19955554	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Hennekam Syndrome	Menke-Hennekam syndrome 1		GenCC
Sclerosing Cholangitis	Sclerosing Cholangitis		GWAS
Atrial Fibrillation	Atrial Fibrillation		GWAS

Show/Hide Text Mining Associations (184)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	30789376, 34071322
Adenocarcinoma of Lung	Associate	26628108, 29141249, 33846793
Agnosia	Associate	33827682
Aicardi Syndrome	Associate	31857685
Alzheimer Disease	Associate	27480489
Anemia Aplastic	Stimulate	35274786
Anorectal Malformations	Associate	36474027
Aortic Aneurysm Abdominal	Associate	26767057
Arnold Chiari Malformation	Associate	23432975
Arthritis Rheumatoid	Associate	29217191
Astrocytoma	Associate	32493417
Ataxia	Associate	26598538
Atrial Fibrillation	Associate	37161136
Autism Spectrum Disorder	Inhibit	26290361
Autism Spectrum Disorder	Associate	34615535, 35422816
Autistic Disorder	Associate	23315884, 25768348
Azoospermia	Associate	27834916
Blindness	Associate	2879932
Blood Coagulation Disorders	Associate	39252244
Bone Diseases Metabolic	Associate	31882850
Bone Neoplasms	Associate	23199169
Brachydactyly	Associate	30635043
Breast Neoplasms	Associate	10648616, 10688660, 19183483, 22002538, 27270325, 28990063, 30420728, 30597111, 30606771, 30692147, 33827682, 36114448, 36826464, 9443979
Carcinogenesis	Associate	19893992, 28939763
Carcinoma Adenoid Cystic	Associate	37660928
Carcinoma Hepatocellular	Associate	19893992, 30021196, 33783990, 36308411
Carcinoma Merkel Cell	Associate	36574443
Carcinoma Non Small Cell Lung	Associate	31713888, 33629637, 36117234, 36282125
Carcinoma Pancreatic Ductal	Associate	24977327, 32119844
Carcinoma Renal Cell	Associate	29506494
Carcinoma Small Cell	Associate	24551300, 25735316, 28007623
Carcinoma Squamous Cell	Associate	34398873, 34851968, 35698008
Carcinoma Transitional Cell	Associate	21822268
Cardiomyopathy Dilated	Associate	33407844
Cell Transformation Neoplastic	Associate	12140315
Central Nervous System Neoplasms	Associate	38216991
Cerebellar Diseases	Stimulate	30789376
Cerebral Infarction	Associate	40629591
Chromosome Disorders	Associate	25805166
Cleft Palate	Associate	32241273
Coffin Siris syndrome	Associate	36474027
Cognition Disorders	Associate	34071322, 36872777
Colitis Ulcerative	Associate	28751935, 29794741, 39252244
Colonic Neoplasms	Associate	17720775
Colorectal Neoplasms	Associate	14732695, 17720775, 21209843, 30951563, 31856851, 34572494, 35638907, 35798829
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	35638907
COVID 19	Associate	39361370
De Lange Syndrome	Associate	30770747
Dental Caries	Associate	23432975
Depressive Disorder	Stimulate	19955554
Developmental Disabilities	Associate	22287508, 36385105
Diabetes Mellitus	Associate	31870441
Diabetes Mellitus Type 2	Associate	11296231, 23776558
Diffuse Intrinsic Pontine Glioma	Associate	32826850
Disease	Associate	32759223
Drug Related Side Effects and Adverse Reactions	Associate	11046153
Dubowitz syndrome	Associate	33098347
Dwarfism Pituitary	Associate	23432975
Dyslexia	Associate	27734840
Elbow Injuries	Associate	27537276
Encephalitis Herpes Simplex	Associate	35670379
Endometrial Hyperplasia	Associate	14601091
Endometrial Neoplasms	Inhibit	14601091
Endometriosis	Associate	19074548
Ependymoma	Associate	38216991
Epilepsy	Associate	19011377
Esophageal Squamous Cell Carcinoma	Associate	25839328, 28939763, 34016787
Eye Abnormalities	Associate	35986282
Familial paroxysmal dystonia	Associate	15147375
Fibrocystic Breast Disease	Associate	31857685
Fibrosis	Associate	21816937
Filippi syndrome	Associate	26956253
Glaucoma	Associate	35986282, 36653044
Glaucoma 3 Primary Congenital A	Associate	36653044
Glioblastoma	Associate	23908595, 33577785
Glioma	Associate	25007077, 26972001, 32493417, 37713468
Growth Disorders	Associate	32386048
Guillain Barre Syndrome	Associate	34763483
Hematologic Diseases	Associate	9226152
Hematologic Neoplasms	Associate	30110629
Hepatitis B	Associate	33827682
Hodgkin Disease	Associate	30213827
Huntington Disease	Associate	36902304
Hypercholesterolemia	Associate	40428410
Hypoxia	Associate	11278891, 8917528
Hypoxia	Stimulate	23756865
Hypoxia Brain	Associate	8917528
Immunologic Deficiency Syndromes	Associate	39252244
Infections	Associate	11909956, 25525796
Inflammation	Associate	17932106, 19915063, 35734168, 37172591
Influenza Human	Associate	34281396
Intellectual Disability	Associate	29883886, 31870441
Isodicentric Chromosome 15 Syndrome	Associate	9558366
Latent Autoimmune Diabetes in Adults	Associate	26839444
Leukemia	Associate	11333923, 11742995, 22972988, 27219024, 29884215, 32945392, 33527899, 9558366
Leukemia Biphenotypic Acute	Associate	25790293
Leukemia Monocytic Acute	Associate	11742995, 36977512, 9731070
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	31073075
Leukemia Myeloid Acute	Associate	12619164, 17296583, 17920756, 24798186, 25220592, 33527899, 34663789, 37055414, 9166831, 9226152, 9238046
Leukemia Myelomonocytic Acute	Associate	15147375, 9226152
Leukemia Myelomonocytic Juvenile	Associate	27158276
Leukemia Promyelocytic Acute	Associate	11333923, 19011377
Liposarcoma	Associate	29784880
Liver Cirrhosis	Associate	37464780
Lordosis	Associate	30789376
Lung Injury	Associate	33413422
Lung Neoplasms	Associate	17434128, 25897662, 26318425, 26628108, 29141249, 31223286, 34121659, 36117234, 37060831
Lupus Erythematosus Systemic	Associate	11238674
Lymphoma	Associate	26731516, 29884215, 31533053, 33311649
Lymphoma B Cell	Associate	30213827, 31533053, 32555149, 32973328, 33911074, 33945543, 40243506
Lymphoma B Cell Marginal Zone	Associate	24349473, 28152507, 35528192
Lymphoma Follicular	Associate	24362818, 25713363, 29193015, 30348636, 32555149, 32929178, 33211828, 33945543, 34601504, 34957565, 35363872, 35734168, 35816682, 36240289, 36939219 View all (4 more)
Lymphoma Large B Cell Diffuse	Associate	22343534, 24529102, 27003102, 28302137, 28479318, 29895903, 31366566, 31669559, 32546039, 33479306, 33911074, 36240289, 36599133, 39273276, 39358470
Lymphoma Non Hodgkin	Associate	32555149
Lymphoma T Cell Peripheral	Associate	30307363
Lymphoproliferative Disorders	Associate	24377530
Mastocytosis Systemic	Associate	30667593
Maturity Onset Diabetes of the Young Type 3	Associate	11296231
Melanoma	Associate	25675294
Menkes Kinky Hair Syndrome	Associate	35670379, 36797748, 38553851
Microsatellite Instability	Associate	14732695
Midline granulomatosis	Associate	32366905
Mouth Neoplasms	Stimulate	26980735
Mucositis	Associate	37358854
Multiple Myeloma	Associate	24416428, 26731516, 36121114
Myelodysplastic Syndromes	Associate	12542485, 34663789, 9166831, 9226152
Neoplasm Invasiveness	Associate	28970362
Neoplasm Metastasis	Associate	27934968, 34173718
Neoplasm Recurrence Local	Associate	34326338
Neoplasms	Associate	10848610, 11782467, 11973335, 12402157, 14732695, 16638127, 17434128, 17603632, 17855048, 19011377, 19448667, 21668942, 22285752, 23671581, 24377530 View all (45 more)
Neoplasms	Inhibit	10906119, 24622842, 26729194, 27903272, 32493417, 34398873, 9443979
Neoplasms Vascular Tissue	Associate	38134880
Nephrosis congenital	Stimulate	35173708
Nephrotic Syndrome	Stimulate	35173708
Nerve Degeneration	Associate	34071322
Neural Tube Defects	Associate	30789376
Neuroblastoma	Associate	17603632, 23223795
Neuromuscular Diseases	Associate	23776558
Neutropenia	Associate	37358854
Non Muscle Invasive Bladder Neoplasms	Associate	25915404, 32449441
Obesity	Associate	31637876, 40428410
Obesity Maternal	Associate	31025158
Orofacial Cleft 1	Associate	30254216
Osteoporosis	Associate	35565907, 37335694
Ovarian Neoplasms	Associate	32912307, 36721777
Peripheral Nervous System Diseases	Associate	37248406
Pharyngeal Neoplasms	Associate	34999731
Pituitary Diseases	Associate	23432975
Pneumocephalus	Associate	29895903
Polycythemia Vera	Associate	32567517
Polydactyly	Associate	31637876
Prader Willi Syndrome	Associate	31637876
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	35124168, 40010436
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	22388726, 25917266, 30262461, 31096545
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	32945392
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15147375, 21080944, 21390130, 25394790, 30942411, 33529373
Prostatic Intraepithelial Neoplasia	Associate	12507906
Prostatic Neoplasms	Associate	12507906, 31097763, 32203167, 33495313, 33705753
Prostatic Neoplasms Castration Resistant	Associate	35849143, 37477521
Prostatitis	Associate	37477521
Renal Insufficiency	Associate	31870441
Respiratory Distress Syndrome	Associate	34556700
Retinoblastoma	Associate	36047446
Rett Syndrome	Associate	22265015
Rubinstein Taybi Syndrome	Associate	10699051, 15706485, 15748572, 17052063, 17052327, 17220215, 17855048, 20717166, 21085895, 21984751, 22265015, 23315884, 23432975, 25034337, 25768348 View all (30 more)
Sarcoma	Associate	37634866
Sarcoma Ewing	Associate	39367409
Sarcoma Myeloid	Associate	37505185
Scoliosis	Associate	30789376
Severe Acute Respiratory Syndrome	Associate	35274786
Small Cell Lung Carcinoma	Associate	24551300, 31699089, 35596192
Squamous Cell Carcinoma of Head and Neck	Associate	11173543, 30933315, 36245368
ST Elevation Myocardial Infarction	Associate	40355940
Stomach Neoplasms	Associate	36291668, 37904524
Takotsubo Cardiomyopathy	Associate	36977512
Tetralogy of Fallot	Stimulate	39969158
Thrombocythemia Essential	Associate	32567517
Thyroid Cancer Papillary	Associate	19223551
Thyroid Neoplasms	Associate	30069928
Triple Negative Breast Neoplasms	Associate	30606771, 36826464, 38179762
Triple Negative Breast Neoplasms	Inhibit	36114448
Urethral Neoplasms	Associate	18845648, 26598538, 28678170, 30570744
Urinary Bladder Neoplasms	Associate	25915404, 26729194, 28970362, 31077629, 31223286, 32012118, 35798829, 36495164, 40693457
Uterine Cervical Dysplasia	Associate	34257574

CREBBP (CREB binding lysine acetyltransferase)