CREBBP (CREB binding protein)

Gene

• Entrez ID: 1387
• Gene name: CREB binding protein
• Gene symbol: CREBBP
• Synonyms: CBP, KAT3A, MKHK1, RSTS, RSTS1
• 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 critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004683	hsa-miR-324-3p	Luciferase reporter assay	19478946
MIRT035967	hsa-miR-1301-3p	CLASH	23622248
MIRT036676	hsa-miR-935	CLASH	23622248
MIRT039168	hsa-miR-769-5p	CLASH	23622248
MIRT045961	hsa-miR-125b-5p	CLASH	23622248
MIRT048558	hsa-miR-100-5p	CLASH	23622248
MIRT051673	hsa-let-7e-5p	CLASH	23622248
MIRT343552	hsa-miR-543	PAR-CLIP	24398324
MIRT369299	hsa-miR-4635	PAR-CLIP	22100165
MIRT440879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT447719	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT447720	hsa-miR-1264	PAR-CLIP	22100165
MIRT447721	hsa-miR-6507-3p	PAR-CLIP	22100165
MIRT500143	hsa-miR-4684-5p	PAR-CLIP	24398324
MIRT500144	hsa-miR-3143	PAR-CLIP	24398324
MIRT500145	hsa-miR-601	PAR-CLIP	24398324
MIRT500146	hsa-miR-4765	PAR-CLIP	24398324
MIRT500147	hsa-miR-942-5p	PAR-CLIP	24398324
MIRT500148	hsa-miR-1251-5p	PAR-CLIP	24398324
MIRT500149	hsa-miR-517-5p	PAR-CLIP	24398324
MIRT500150	hsa-miR-325	PAR-CLIP	24398324
MIRT500151	hsa-miR-628-3p	PAR-CLIP	24398324
MIRT500152	hsa-miR-6729-3p	PAR-CLIP	24398324
MIRT500153	hsa-miR-8079	PAR-CLIP	24398324
MIRT500154	hsa-miR-1245a	PAR-CLIP	24398324
MIRT500155	hsa-miR-5586-3p	PAR-CLIP	24398324
MIRT500156	hsa-miR-802	PAR-CLIP	24398324
MIRT548736	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT548737	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT548738	hsa-miR-5681b	PAR-CLIP	21572407
MIRT548739	hsa-miR-571	PAR-CLIP	21572407
MIRT548740	hsa-miR-5680	PAR-CLIP	21572407
MIRT548741	hsa-miR-6512-5p	PAR-CLIP	21572407
MIRT548742	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT548743	hsa-miR-4517	PAR-CLIP	21572407
MIRT548744	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT548745	hsa-miR-219a-1-3p	PAR-CLIP	21572407
MIRT641514	hsa-miR-4268	HITS-CLIP	23824327
MIRT641515	hsa-miR-4641	HITS-CLIP	23824327
MIRT641516	hsa-miR-4264	HITS-CLIP	23824327
MIRT641517	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT641518	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT641519	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT641520	hsa-miR-3183	HITS-CLIP	23824327
MIRT641521	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT641522	hsa-miR-5193	HITS-CLIP	23824327
MIRT641523	hsa-miR-4328	HITS-CLIP	23824327

Transcription factors

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

Gene ontology (GO)

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

Other IDs

• MIM: 600140
• HGNC: 2348
• e!Ensembl: ENSG00000005339

Protein

• UniProt ID: Q92793
• Protein name: CREB-binding protein (Histone lysine acetyltransferase CREBBP) (EC 2.3.1.48) (Protein-lysine acetyltransferase CREBBP) (EC 2.3.1.-)
• Protein function: Acetylates histones, giving a specific tag for transcriptional activation (PubMed:24616510). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:9707565, PubMed:24207024, PubMed:28790157, PubMed:30540930). Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493).
• 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