ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CREBBP

Gene summary

Gene information	Gene symbol	CREBBP
	Gene ID	1387
	Gene name	CREB binding protein
	Synonyms	CBP\|KAT3A\|MKHK1\|RSTS\|RSTS1
	Cytomap	16p13.3
	Type of gene	protein-coding
	Description	CREB-binding proteinhistone lysine acetyltransferase CREBBPprotein-lysine acetyltransferase CREBBP
	Modification date	20200329
	UniProtAcc	A0A1B0GUU0, B5A210, B5A211, B5A212, B5A213, B5A214, B5A215, B5A216, B5A217, B5A218, B5A219, B5A220, B5A221, B5A222, B5A223, B5A224, B5A225, B5A226, B5A227, B5A228, B5A229, B5A230, B5A231, B5A232, B5A233, B5A234, B5A235, B5A236, B5A237, B5A238, B5A239, B5A240, B5A241, B5A242, B5A243, B5A244, B5A246, B5A248, B5A249, B5A250, B5A252, B5A253, I3L0Q1, I3L293, I3L3I5, I3L466, Q4G0V0, Q92793,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
CREBBP	GO:0000122	negative regulation of transcription by RNA polymerase II	21539536
CREBBP	GO:0006355	regulation of transcription, DNA-templated	12169688
CREBBP	GO:0006473	protein acetylation	15273251\|24207024\|24939902\|28790157\|30540930
CREBBP	GO:0016573	histone acetylation	11742995
CREBBP	GO:0018076	N-terminal peptidyl-lysine acetylation	12435739
CREBBP	GO:0034644	cellular response to UV	24939902
CREBBP	GO:0045893	positive regulation of transcription, DNA-templated	11742995
CREBBP	GO:1990258	histone glutamine methylation	30540930

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Gene structures and expression levels for CREBBP

Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

ENSG00000005339

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	UP	ENST00000382070.7	CREBBP-202:protein_coding:CREBBP	5.775283e+02	1.112805e+00	2.825806e-04	1.782609e-03
CB	UP	ENST00000572134.1	CREBBP-206:protein_coding:CREBBP	3.651087e+00	1.198189e+00	1.052044e-02	3.624297e-02
CB	UP	ENST00000634839.1	CREBBP-213:retained_intron:CREBBP	1.195778e+00	8.136480e-01	1.496599e-02	4.818091e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CREBBP

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_115449	chr16	3769181:3769353:3770570:3770986:3773751:3773930	3770570:3770986
exon_skip_126956	chr16	3778011:3778182:3778700:3778817:3780732:3780867	3778700:3778817
exon_skip_13475	chr16	3769203:3769353:3770570:3770986:3773751:3773930	3770570:3770986
exon_skip_146792	chr16	3810720:3810779:3850297:3851009:3879832:3880120	3850297:3851009
exon_skip_177821	chr16	3782890:3782926:3791981:3792094:3793386:3793626	3791981:3792094
exon_skip_179355	chr16	3736650:3736815:3739578:3739724:3740399:3740549	3739578:3739724
exon_skip_199040	chr16	3793386:3793626:3810603:3810779:3850297:3850321	3810603:3810779
exon_skip_217264	chr16	3774569:3774693:3777613:3777657:3778011:3778172	3777613:3777657
exon_skip_255209	chr16	3740443:3740549:3744894:3744961:3745277:3745354	3744894:3744961
exon_skip_257814	chr16	3736650:3736815:3738559:3738672:3739578:3739724	3738559:3738672
exon_skip_279752	chr16	3781204:3781306:3782684:3782926:3791981:3792094	3782684:3782926
exon_skip_282608	chr16	3781204:3781306:3782684:3782926:3793386:3793626	3782684:3782926
exon_skip_43666	chr16	3810720:3810779:3850297:3851009:3879832:3880016	3850297:3851009
exon_skip_48501	chr16	3736508:3736815:3739578:3739724:3740399:3740549	3739578:3739724
exon_skip_6764	chr16	3738559:3738672:3739578:3739724:3740399:3740549	3739578:3739724
exon_skip_74527	chr16	3769174:3769353:3770570:3770986:3773751:3773930	3770570:3770986
exon_skip_92481	chr16	3770570:3770986:3773751:3773930:3774569:3774693	3773751:3773930

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for CREBBP

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262367	3738559	3738672	In-frame
ENST00000262367	3770570	3770986	In-frame
ENST00000262367	3777613	3777657	In-frame
ENST00000262367	3782684	3782926	In-frame
ENST00000262367	3791981	3792094	In-frame
ENST00000262367	3810603	3810779	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262367	3738559	3738672	In-frame
ENST00000262367	3770570	3770986	In-frame
ENST00000262367	3777613	3777657	In-frame
ENST00000262367	3782684	3782926	In-frame
ENST00000262367	3791981	3792094	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000262367	3744894	3744961	Frame-shift
ENST00000262367	3778700	3778817	Frame-shift
ENST00000262367	3738559	3738672	In-frame
ENST00000262367	3739578	3739724	In-frame
ENST00000262367	3770570	3770986	In-frame
ENST00000262367	3773751	3773930	In-frame
ENST00000262367	3777613	3777657	In-frame
ENST00000262367	3782684	3782926	In-frame
ENST00000262367	3791981	3792094	In-frame
ENST00000262367	3810603	3810779	In-frame

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Infer the effects of exon skipping event on protein functional features for CREBBP

p-ENSG00000005339_img4.png
boxplot

Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000262367	10820	2442	3810603	3810779	1609	1784	266	324
ENST00000262367	10820	2442	3791981	3792094	2027	2139	405	443
ENST00000262367	10820	2442	3782684	3782926	2141	2382	443	524
ENST00000262367	10820	2442	3777613	3777657	2924	2967	704	719
ENST00000262367	10820	2442	3770570	3770986	3274	3689	821	959
ENST00000262367	10820	2442	3738559	3738672	5091	5203	1427	1464

Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000262367	10820	2442	3791981	3792094	2027	2139	405	443
ENST00000262367	10820	2442	3782684	3782926	2141	2382	443	524
ENST00000262367	10820	2442	3777613	3777657	2924	2967	704	719
ENST00000262367	10820	2442	3770570	3770986	3274	3689	821	959
ENST00000262367	10820	2442	3738559	3738672	5091	5203	1427	1464

Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000262367	10820	2442	3810603	3810779	1609	1784	266	324
ENST00000262367	10820	2442	3791981	3792094	2027	2139	405	443
ENST00000262367	10820	2442	3782684	3782926	2141	2382	443	524
ENST00000262367	10820	2442	3777613	3777657	2924	2967	704	719
ENST00000262367	10820	2442	3773751	3773930	3094	3272	761	820
ENST00000262367	10820	2442	3770570	3770986	3274	3689	821	959
ENST00000262367	10820	2442	3739578	3739724	4944	5089	1378	1426
ENST00000262367	10820	2442	3738559	3738672	5091	5203	1427	1464

Lost protein functional features of individual exon skipping events in ROSMAP.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q92793	266	324	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	266	324	227	410	Region	Note=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10347196;Dbxref=PMID:10347196
Q92793	266	324	266	267	Site	Note=Breakpoint for translocation to form KAT6A-CREBBP
Q92793	405	443	406	444	Alternative sequence	ID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
Q92793	405	443	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	405	443	409	409	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	418	418	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	422	422	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	427	427	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	430	430	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	227	410	Region	Note=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10347196;Dbxref=PMID:10347196
Q92793	405	443	347	433	Zinc finger	Note=TAZ-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00203
Q92793	443	524	406	444	Alternative sequence	ID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
Q92793	443	524	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	443	524	503	503	Natural variant	ID=VAR_072912;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25388907;Dbxref=dbSNP:rs748447855,PMID:25388907
Q92793	704	719	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	821	959	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	821	959	910	910	Natural variant	ID=VAR_072917;Note=In RSTS1%3B incomplete. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20684013;Dbxref=dbSNP:rs143247685,PMID:20684013
Q92793	1427	1464	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	1427	1464	1199	1487	Compositional bias	Note=Cys/His-rich
Q92793	1427	1464	1323	1700	Domain	Note=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01065
Q92793	1427	1464	1447	1447	Natural variant	ID=VAR_035081;Note=In RSTS1. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15706485;Dbxref=PMID:15706485
Q92793	1427	1464	1450	1450	Natural variant	ID=VAR_035082;Note=In RSTS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15706485;Dbxref=PMID:15706485
Q92793	1427	1464	1433	1435	Region	Note=Interaction with histone;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1434	1436	Region	Note=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1446	1447	Region	Note=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1460	1891	Region	Note=Interaction with TRERF1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11349124;Dbxref=PMID:11349124

Lost protein functional features of individual exon skipping events in MSBB.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q92793	405	443	406	444	Alternative sequence	ID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
Q92793	405	443	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	405	443	409	409	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	418	418	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	422	422	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	427	427	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	430	430	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	227	410	Region	Note=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10347196;Dbxref=PMID:10347196
Q92793	405	443	347	433	Zinc finger	Note=TAZ-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00203
Q92793	443	524	406	444	Alternative sequence	ID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
Q92793	443	524	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	443	524	503	503	Natural variant	ID=VAR_072912;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25388907;Dbxref=dbSNP:rs748447855,PMID:25388907
Q92793	704	719	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	821	959	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	821	959	910	910	Natural variant	ID=VAR_072917;Note=In RSTS1%3B incomplete. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20684013;Dbxref=dbSNP:rs143247685,PMID:20684013
Q92793	1427	1464	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	1427	1464	1199	1487	Compositional bias	Note=Cys/His-rich
Q92793	1427	1464	1323	1700	Domain	Note=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01065
Q92793	1427	1464	1447	1447	Natural variant	ID=VAR_035081;Note=In RSTS1. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15706485;Dbxref=PMID:15706485
Q92793	1427	1464	1450	1450	Natural variant	ID=VAR_035082;Note=In RSTS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15706485;Dbxref=PMID:15706485
Q92793	1427	1464	1433	1435	Region	Note=Interaction with histone;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1434	1436	Region	Note=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1446	1447	Region	Note=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1460	1891	Region	Note=Interaction with TRERF1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11349124;Dbxref=PMID:11349124

Lost protein functional features of individual exon skipping events in Mayo.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q92793	266	324	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	266	324	227	410	Region	Note=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10347196;Dbxref=PMID:10347196
Q92793	266	324	266	267	Site	Note=Breakpoint for translocation to form KAT6A-CREBBP
Q92793	405	443	406	444	Alternative sequence	ID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
Q92793	405	443	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	405	443	409	409	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	418	418	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	422	422	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	427	427	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	430	430	Metal binding	Note=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793	405	443	227	410	Region	Note=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10347196;Dbxref=PMID:10347196
Q92793	405	443	347	433	Zinc finger	Note=TAZ-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00203
Q92793	443	524	406	444	Alternative sequence	ID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.4
Q92793	443	524	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	443	524	503	503	Natural variant	ID=VAR_072912;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25388907;Dbxref=dbSNP:rs748447855,PMID:25388907
Q92793	704	719	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	761	820	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	761	820	789	789	Natural variant	ID=VAR_072916;Note=In RSTS1. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25388907;Dbxref=dbSNP:rs746728741,PMID:25388907
Q92793	821	959	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	821	959	910	910	Natural variant	ID=VAR_072917;Note=In RSTS1%3B incomplete. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20684013;Dbxref=dbSNP:rs143247685,PMID:20684013
Q92793	1378	1426	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	1378	1426	1199	1487	Compositional bias	Note=Cys/His-rich
Q92793	1378	1426	1323	1700	Domain	Note=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01065
Q92793	1378	1426	1382	1382	Modified residue	Note=Phosphoserine%3B by IKKA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17434128;Dbxref=PMID:17434128
Q92793	1378	1426	1386	1386	Modified residue	Note=Phosphoserine%3B by IKKA;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17434128;Dbxref=PMID:17434128
Q92793	1378	1426	1378	1378	Natural variant	ID=VAR_015578;Note=In RSTS1%3B abolishes acetyltransferase activity and the ability of transactivate CREB. R->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11331617,ECO:0000269\|PubMed:25388907;Dbxref=dbSNP:rs121434626,PMID:11331617,P
Q92793	1378	1426	1406	1406	Natural variant	ID=VAR_072919;Note=In RSTS1. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25388907;Dbxref=PMID:25388907
Q92793	1378	1426	1414	1414	Natural variant	ID=VAR_027953;Note=V->I;Dbxref=dbSNP:rs130015
Q92793	1378	1426	1415	1415	Natural variant	ID=VAR_072920;Note=In RSTS1. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25388907;Dbxref=PMID:25388907
Q92793	1427	1464	2	2442	Chain	ID=PRO_0000211190;Note=CREB-binding protein
Q92793	1427	1464	1199	1487	Compositional bias	Note=Cys/His-rich
Q92793	1427	1464	1323	1700	Domain	Note=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01065
Q92793	1427	1464	1447	1447	Natural variant	ID=VAR_035081;Note=In RSTS1. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15706485;Dbxref=PMID:15706485
Q92793	1427	1464	1450	1450	Natural variant	ID=VAR_035082;Note=In RSTS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15706485;Dbxref=PMID:15706485
Q92793	1427	1464	1433	1435	Region	Note=Interaction with histone;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1434	1436	Region	Note=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1446	1447	Region	Note=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q09472
Q92793	1427	1464	1460	1891	Region	Note=Interaction with TRERF1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11349124;Dbxref=PMID:11349124

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3'-UTR located exon skipping events that lost miRNA binding sites in CREBBP

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for CREBBP

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

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AD stage-associated exon skippint events for CREBBP

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CREBBP

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for CREBBP

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	RBM6	exon_skip_177821	4.130393e-01	2.892181e-02
IFG	RC3H1	exon_skip_177821	4.182642e-01	2.675951e-02
IFG	RBM45	exon_skip_177821	4.017646e-01	3.407080e-02
IFG	RBM23	exon_skip_177821	4.600631e-01	1.376518e-02
IFG	NOVA1	exon_skip_177821	5.541865e-01	2.213612e-03
TC	NUP42	exon_skip_177821	-4.153984e-01	6.957089e-08

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RelatedDrugs for CREBBP

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for CREBBP

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for CREBBP

Gene structures and expression levels for CREBBP

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CREBBP

Open reading frame (ORF) annotation in the exon skipping event for CREBBP

Infer the effects of exon skipping event on protein functional features for CREBBP

3'-UTR located exon skipping events that lost miRNA binding sites in CREBBP

SNVs in the skipped exons for CREBBP

AD stage-associated exon skippint events for CREBBP

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CREBBP

Correlation with RNA binding proteins (RBPs) for CREBBP

RelatedDrugs for CREBBP

RelatedDiseases for CREBBP