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	1387
Gene name	CREB binding lysine acetyltransferase
Gene symbol	CREBBP
Synonyms (NCBI Gene)	CBPKAT3AMKHK1RSTSRSTS1
Chromosome	16
Chromosome location	16p13.3
Summary	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

313

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

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

105

Show/Hide all (105)

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
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000785	Component	Chromatin	IDA	21539536
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001223	Function	Transcription coactivator binding	IPI	11349124
GO:0001666	Process	Response to hypoxia	IEA
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	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003682	Function	Chromatin binding	IDA	24939902
GO:0003682	Function	Chromatin binding	IEA
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	12169688, 12435739, 12586840, 12929931, 14645221
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IPI	8684459
GO:0003713	Function	Transcription coactivator activity	TAS	10362258, 10893273, 11001584
GO:0003714	Function	Transcription corepressor activity	IDA	21539536
GO:0004402	Function	Histone acetyltransferase activity	IBA
GO:0004402	Function	Histone acetyltransferase activity	IDA	11742995
GO:0004402	Function	Histone acetyltransferase activity	IEA
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, 12435739, 12482968, 14645221, 14716005, 14759370, 15075319, 15126506, 15220471, 15273251, 16043483, 1
GO:0005634	Component	Nucleus	IC	12169688
GO:0005634	Component	Nucleus	IDA	12929931, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7913207
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005737	Component	Cytoplasm	IDA	35675826
GO:0005737	Component	Cytoplasm	IDA	12929931
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7913207
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	7913207, 15261140
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	35675826
GO:0006473	Process	Protein acetylation	IDA	15273251, 24207024, 24939902, 28790157
GO:0007165	Process	Signal transduction	NAS	15261140
GO:0007165	Process	Signal transduction	TAS	7913207
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	12048232
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	16135789
GO:0007249	Process	Canonical NF-kappaB signal transduction	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	TAS	11001584
GO:0016407	Function	Acetyltransferase activity	EXP	12456660, 16135789
GO:0016407	Function	Acetyltransferase activity	IDA	11742995, 15273251, 24939902
GO:0016479	Process	Negative regulation of transcription by RNA polymerase I	IDA	30540930
GO:0016604	Component	Nuclear body	IDA	15488321
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018076	Process	N-terminal peptidyl-lysine acetylation	IDA	12435739
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:0031490	Function	Chromatin DNA binding	IBA
GO:0031648	Process	Protein destabilization	IEA
GO:0031648	Process	Protein destabilization	IMP	24939902
GO:0031669	Process	Cellular response to nutrient levels	IDA	35675826
GO:0031669	Process	Cellular response to nutrient levels	IDA	35675826
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0034644	Process	Cellular response to UV	IEA
GO:0042592	Process	Homeostatic process	NAS	15261140
GO:0042733	Process	Embryonic digit morphogenesis	TAS	11001584
GO:0043426	Function	MRF binding	IDA	8621548
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IDA	21131905
GO:0043993	Function	Histone H3K18 acetyltransferase activity	IEA
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IDA	21131905
GO:0044017	Function	Histone H3K27 acetyltransferase activity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11742995
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12169688
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048156	Function	Tau protein binding	TAS	28386764
GO:0048511	Process	Rhythmic process	IEA
GO:0050821	Process	Protein stabilization	IDA	35675826
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	16043483, 21539536
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	TAS	11001584
GO:0061733	Function	Protein-lysine-acetyltransferase activity	EXP	34239064
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	24207024, 28790157, 30540930, 35675826
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0061733	Function	Protein-lysine-acetyltransferase activity	TAS	28386764
GO:0065003	Process	Protein-containing complex assembly	TAS	7913207
GO:0071108	Process	Protein K48-linked deubiquitination	IDA	35675826
GO:0097009	Process	Energy homeostasis	IDA	35675826
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IDA	38128537
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15509593, 15674325
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	IDA	35675826
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	35675826
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	38128537

MIM	HGNC	e!Ensembl
600140	2348	ENSG00000005339

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

2879

Show/Hide Causal Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Pathogenic	rs2141496166	RCV002276337
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs267606752	RCV001813970
Cervical cancer	Pathogenic	rs587783483, rs1555473491	RCV005888120 RCV005900131
Congenital heart anomalies	Pathogenic	rs1057520652	RCV005238988
Corpus callosum, agenesis of	Pathogenic	rs1384496494	RCV001526626
CREBBP-related disorder	Likely pathogenic; Pathogenic	rs587783502, rs587783509, rs2141496166, rs786205495, rs797045037, rs587783507, rs121434626, rs267606752, rs2151317319, rs988251457, rs1411086593, rs1596910004, rs1596793242, rs587783483	RCV003398783 RCV004724925 RCV003403768 RCV003982920 RCV003422092 RCV004545758 RCV005249986 RCV004742224 RCV004545857 RCV003402462 RCV003403027 RCV003911583 RCV004726706 RCV003413671
Glaucoma	Likely pathogenic; Pathogenic	rs1057518844	RCV000415361
Global developmental delay	Pathogenic	rs1057518789	RCV000414795
Intellectual disability	Pathogenic; Likely pathogenic	rs587783483, rs797045037, rs267606752, rs2051852330, rs2051863859	RCV001260696 RCV001260745 RCV001260694 RCV001260744 RCV001260695
Kabuki-like syndrome	Likely pathogenic	rs797045492	RCV001261355
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs2151336596	RCV003449013
Malignant tumor of urinary bladder	Pathogenic	rs200782888	RCV005888121
Menke-Hennekam syndrome	Pathogenic	rs886039491	RCV002282094
Menke-Hennekam syndrome 1	Likely pathogenic; Pathogenic	rs2151316542, rs2151309510, rs2151306905, rs2151306514, rs146718571, rs587783505, rs587783483, rs933672395, rs1555471394, rs797045037, rs267606752, rs879255381, rs886039491, rs794727535, rs1131691326 View all (6 more)	RCV002504629 RCV001543358 RCV002221826 RCV002245513 RCV005052854 RCV004796043 RCV002498664 RCV002280359 RCV002285198 RCV000757968 RCV002496320 RCV002290966 RCV000757967 RCV003333820 RCV000757966 RCV005869526 RCV003329314 RCV001027872 RCV000757965 RCV000757969 RCV005021267
Multiple myeloma	Likely pathogenic	rs1159294530	RCV000984087
Neoplasm	Likely pathogenic; Pathogenic	rs587783502, rs2141496166	RCV004668805 RCV004673656
Neurodevelopmental disorder	Pathogenic	rs121434626	RCV001780057
Pilocytic astrocytoma	Likely pathogenic; Pathogenic	rs587783502	RCV006253830
Precursor B-cell acute lymphoblastic leukemia	Likely pathogenic; Pathogenic	rs587783502	RCV006253829
Rare genetic intellectual disability	Likely pathogenic; Pathogenic	rs886041518, rs2151312423	RCV001256995 RCV001257011
Rubinstein-Taybi syndrome	Likely pathogenic; Pathogenic	rs2151316542, rs2151327974, rs2052993075, rs2141248421, rs2151317319, rs2151327706, rs2151381815, rs2141203402, rs2053923868, rs2151334254, rs751913060, rs199817036, rs2141491677, rs2151383792, rs2151330226 View all (86 more)	RCV001377314 RCV001378472 RCV001377152 RCV001378596 RCV001390956 RCV001383661 RCV001383322 RCV001380506 RCV001384100 RCV001866006 RCV001912665 RCV001884465 RCV001932304 RCV001930793 RCV002017432 RCV001975149 RCV002035383 RCV002007528 RCV002011725 RCV001939522 RCV005089680 RCV003593918 RCV001390957 RCV005089678 RCV005089681 RCV003064314 RCV003064315 RCV002819163 RCV002517032 RCV002824968 RCV002802158 RCV002816095 RCV002851952 RCV002893887 RCV002913817 RCV002948291 RCV003031172 RCV003020509 RCV003018646 RCV003020159 RCV003049726 RCV003040308 RCV002518519 RCV003595018 RCV003595455 RCV003593625 RCV003593541 RCV003593591 RCV003593782 RCV003593839 RCV003594467 RCV003760884 RCV003760965 RCV003761100 RCV003760941 RCV003758319 RCV003758504 RCV003758594 RCV005090685 RCV001851047 RCV003758800 RCV002231254 RCV002231252 RCV002231028 RCV002233937 RCV002234418 RCV002233936 RCV000633000 RCV002234417 RCV002233539 RCV002232872 RCV002233133 RCV000823101 RCV002535428 RCV003594027 RCV000798264 RCV000806116 RCV000799589 RCV000804679 RCV000815586 RCV000791751 RCV000815567 RCV000810810 RCV000822242 RCV001234331 RCV005092540 RCV002536209 RCV001066810 RCV001055503 RCV001049869 RCV001058497 RCV001045064 RCV001065620 RCV001057165 RCV001221458 RCV001218604 RCV001205702 RCV001213863 RCV001224110 RCV001226464 RCV001233402 RCV001233937 RCV001245026
Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic; Likely pathogenic	rs398124145, rs2055490250, rs2151316542, rs2151317319, rs2151327706, rs2151385509, rs2151304304, rs2141247044, rs199821421, rs121434626, rs866703165, rs2151383848, rs2151354104, rs1596791996, rs2141237064 View all (230 more)	RCV000499536 RCV001331220 RCV002504629 RCV005410935 RCV005866993 RCV001420156 RCV001563617 RCV001730138 RCV001754541 RCV005860255 RCV001807959 RCV001808129 RCV001814883 RCV001842251 RCV002077368 RCV002221826 RCV002223099 RCV002226836 RCV002226990 RCV002226996 RCV002245282 RCV002249839 RCV002249840 RCV002250932 RCV000145777 RCV000145775 RCV000145773 RCV000145771 RCV000145772 RCV000145769 RCV000145765 RCV000145764 RCV000145762 RCV000145760 RCV000145757 RCV000145756 RCV000145755 RCV000145754 RCV000145753 RCV000145752 RCV000145750 RCV000145749 RCV000145748 RCV000145747 RCV000145746 RCV000145744 RCV000145743 RCV000145741 RCV000145739 RCV000145738 RCV000145736 RCV000145735 RCV000145730 RCV000145726 RCV000145724 RCV000145723 RCV000145722 RCV000145719 RCV000145717 RCV000145716 RCV000145715 RCV000145713 RCV000145711 RCV000145784 RCV000145774 RCV000145734 RCV000145733 RCV000145732 RCV000145783 RCV000145740 RCV002282719 RCV002283594 RCV002287221 RCV002471646 RCV002471870 RCV002470191 RCV005869996 RCV002510718 RCV002510739 RCV000191076 RCV000192313 RCV000194469 RCV000193252 RCV000195029 RCV000194204 RCV000193359 RCV000195137 RCV000192723 RCV000194047 RCV000192840 RCV000194630 RCV000194548 RCV000193709 RCV000192496 RCV000192380 RCV000195252 RCV000192951 RCV000193581 RCV000193780 RCV000209852 RCV002790011 RCV003128091 RCV004594680 RCV003148514 RCV003159266 RCV000010035 RCV000010036 RCV000010037 RCV000010038 RCV000010039 RCV000010040 RCV000010041 RCV000258851 RCV000850544 RCV002250613 RCV003314281 RCV003315205 RCV003319568 RCV003388801 RCV003397187 RCV003447759 RCV004783083 RCV005603860 RCV003985962 RCV003990437 RCV003991180 RCV004551154 RCV004555938 RCV004556166 RCV004595156 RCV004595831 RCV003326423 RCV001198296 RCV004594056 RCV005222963 RCV000497205 RCV000502986 RCV000501651 RCV000503664 RCV004576957 RCV000538610 RCV000527062 RCV003157633 RCV005231144 RCV000624200 RCV003147522 RCV000625603 RCV000754905 RCV000754903 RCV000754898 RCV000754900 RCV000754899 RCV000661965 RCV000677660 RCV000678969 RCV004596326 RCV000698529 RCV000710038 RCV003147541 RCV000760233 RCV000824846 RCV000850371 RCV000856797 RCV000856783 RCV000856888 RCV000856887 RCV000856885 RCV000856886 RCV000856884 RCV000856926 RCV000856925 RCV000856924 RCV000856923 RCV000856920 RCV000856919 RCV000856917 RCV000856915 RCV000856883 RCV000856881 RCV000856880 RCV000856879 RCV000856878 RCV000856876 RCV000856875 RCV000856874 RCV000856873 RCV000856872 RCV000856871 RCV000856870 RCV000856914 RCV000856910 RCV000856909 RCV000856908 RCV000856907 RCV000856904 RCV000856903 RCV000856868 RCV000856867 RCV000856866 RCV000856865 RCV000856864 RCV000856862 RCV000856861 RCV000856860 RCV000856859 RCV000856858 RCV000856857 RCV000856856 RCV000856855 RCV000856854 RCV000856902 RCV000856900 RCV000856897 RCV000856895 RCV000856894 RCV000856892 RCV000856891 RCV000856890 RCV000856853 RCV000856852 RCV000856851 RCV000856850 RCV000856849 RCV000856848 RCV000856846 RCV000856845 RCV000856844 RCV000856842 RCV000856841 RCV000856840 RCV000856922 RCV000856921 RCV000856869 RCV000856913 RCV000856905 RCV000856906 RCV000856863 RCV000856899 RCV000856898 RCV000856896 RCV000856893 RCV000856889 RCV000989508 RCV000989511 RCV001027692 RCV005601672 RCV001089539 RCV001759862 RCV001249727 RCV001249612 RCV001249613 RCV001252210 RCV001252207 RCV001253321 RCV001253817 RCV001261356 RCV001265550 RCV005225341
Scoliosis	Pathogenic	rs1057518789	RCV000414795
See cases	Likely pathogenic; Pathogenic	rs2151311363, rs886039491, rs2548346936, rs1596784713	RCV001420341 RCV003156089 RCV003887834 RCV001420346
Thumb deformity	Likely pathogenic; Pathogenic	rs1057518844	RCV000415361
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1596910004	RCV005932731 RCV005936801
Tip-toe gait	Likely pathogenic	rs2151311520	RCV002052282

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs867556262, rs1567272940	-
Acute myeloid leukemia	Benign	rs130025, rs139660488	RCV005919700 RCV005915944
Atrial septal defect 5	not provided	rs55790011	RCV001535563
Cholangiocarcinoma	Benign	rs130025	RCV005919705
Colorectal cancer	-; Benign; Likely benign	rs886041048, rs75459669	RCV005929961 RCV005868008
Dilated cardiomyopathy 1R	not provided	rs55790011	RCV001535563
Familial cancer of breast	Conflicting classifications of pathogenicity	rs372126168	RCV005889882
Gastric cancer	Benign	rs130025	RCV005919702
Hearing impairment	Conflicting classifications of pathogenicity	rs182347573	RCV005625317
Hirschsprung disease, susceptibility to, 1	Uncertain significance	rs863223334	RCV000201310
Hypertrophic cardiomyopathy 11	not provided	rs55790011	RCV001535563
Left ventricular noncompaction 4	not provided	rs55790011	RCV001535563
Malignant tumor of esophagus	Benign; -	rs130025, rs1057519884	RCV005919701 RCV005900736
Marfanoid habitus and intellectual disability	Uncertain significance	rs747187975	RCV000850462
Medulloblastoma WNT activated	Conflicting classifications of pathogenicity	rs398124146	RCV006253787
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity	rs2051853150	RCV001264634
Ovarian serous cystadenocarcinoma	Benign	rs130025, rs139660488	RCV005919703 RCV005915945
Squamous cell lung carcinoma	-	rs2151330226	RCV005929876
Teratoma	Uncertain significance	rs1401593486, rs2151384162	RCV003221381 RCV003221382
Thymoma	Benign	rs130025	RCV005919704
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs75459669, rs372126168, rs773227019	RCV005868009 RCV005889883 RCV005934700

Show/Hide Text Mining Associations (184)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)