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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for CREBBP

check button Gene summary
Gene informationGene symbol

CREBBP

Gene ID

1387

Gene nameCREB binding protein
SynonymsCBP|KAT3A|RSTS|RSTS1
Cytomap

16p13.3

Type of geneprotein-coding
DescriptionCREB-binding protein
Modification date20180522
UniProtAcc

Q92793

ContextPubMed: CREBBP [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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|24939902

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


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Exon skipping events across known transcript of Ensembl for CREBBP from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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.
all structure

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Gene isoform structures and expression levels for CREBBP

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for CREBBP

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_141380163781911:3781938:3786036:3786204:3786650:37868163786036:3786204ENSG00000005339.8ENST00000571763.1,ENST00000576720.1,ENST00000262367.5,ENST00000382070.3
exon_skip_141381163786650:3786816:3788559:3788673:3789578:37897253788559:3788673ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141384163786650:3786816:3789578:3789725:3790399:37905503789578:3789725ENSG00000005339.8ENST00000576720.1
exon_skip_141386163788559:3788673:3789578:3789725:3790399:37905503789578:3789725ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141388163795277:3795355:3799627:3799684:3801726:38018073799627:3799684ENSG00000005339.8ENST00000573517.1,ENST00000262367.5,ENST00000382070.3
exon_skip_141389163799627:3799684:3801726:3801807:3807288:38073773801726:3801807ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141394163819181:3819354:3820570:3820987:3823751:38239313820570:3820987ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141395163820570:3820987:3823751:3823931:3824569:38246943823751:3823931ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141396163824569:3824694:3827613:3827658:3828011:38281733827613:3827658ENSG00000005339.8ENST00000571826.1,ENST00000262367.5,ENST00000382070.3
exon_skip_141398163828011:3828183:3828700:3828818:3830732:38308683828700:3828818ENSG00000005339.8ENST00000572134.1,ENST00000262367.5,ENST00000382070.3
exon_skip_141400163831204:3831307:3832684:3832927:3841981:38420953832684:3832927ENSG00000005339.8ENST00000262367.5
exon_skip_141402163832684:3832927:3841981:3842095:3843386:38436273841981:3842095ENSG00000005339.8ENST00000262367.5
exon_skip_141403163843386:3843627:3860603:3860780:3900297:39010103860603:3860780ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141404163860603:3860780:3900297:3901010:3929832:39301213900297:3901010ENSG00000005339.8ENST00000382070.3

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for CREBBP

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_141380163781911:3781938:3786036:3786204:3786650:37868163786036:3786204ENSG00000005339.8ENST00000262367.5,ENST00000382070.3,ENST00000571763.1,ENST00000576720.1
exon_skip_141381163786650:3786816:3788559:3788673:3789578:37897253788559:3788673ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141384163786650:3786816:3789578:3789725:3790399:37905503789578:3789725ENSG00000005339.8ENST00000576720.1
exon_skip_141386163788559:3788673:3789578:3789725:3790399:37905503789578:3789725ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141388163795277:3795355:3799627:3799684:3801726:38018073799627:3799684ENSG00000005339.8ENST00000262367.5,ENST00000382070.3,ENST00000573517.1
exon_skip_141389163799627:3799684:3801726:3801807:3807288:38073773801726:3801807ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141394163819181:3819354:3820570:3820987:3823751:38239313820570:3820987ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141395163820570:3820987:3823751:3823931:3824569:38246943823751:3823931ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141396163824569:3824694:3827613:3827658:3828011:38281733827613:3827658ENSG00000005339.8ENST00000262367.5,ENST00000382070.3,ENST00000571826.1
exon_skip_141398163828011:3828183:3828700:3828818:3830732:38308683828700:3828818ENSG00000005339.8ENST00000262367.5,ENST00000382070.3,ENST00000572134.1
exon_skip_141400163831204:3831307:3832684:3832927:3841981:38420953832684:3832927ENSG00000005339.8ENST00000262367.5
exon_skip_141402163832684:3832927:3841981:3842095:3843386:38436273841981:3842095ENSG00000005339.8ENST00000262367.5
exon_skip_141403163843386:3843627:3860603:3860780:3900297:39010103860603:3860780ENSG00000005339.8ENST00000262367.5,ENST00000382070.3
exon_skip_141404163860603:3860780:3900297:3901010:3929832:39301213900297:3901010ENSG00000005339.8ENST00000382070.3

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000026236738287003828818Frame-shift
ENST0000026236737860363786204In-frame
ENST0000026236737885593788673In-frame
ENST0000026236737895783789725In-frame
ENST0000026236737996273799684In-frame
ENST0000026236738017263801807In-frame
ENST0000026236738205703820987In-frame
ENST0000026236738237513823931In-frame
ENST0000026236738276133827658In-frame
ENST0000026236738326843832927In-frame
ENST0000026236738419813842095In-frame
ENST0000026236738606033860780In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000026236738287003828818Frame-shift
ENST0000026236737860363786204In-frame
ENST0000026236737885593788673In-frame
ENST0000026236737895783789725In-frame
ENST0000026236737996273799684In-frame
ENST0000026236738017263801807In-frame
ENST0000026236738205703820987In-frame
ENST0000026236738237513823931In-frame
ENST0000026236738276133827658In-frame
ENST0000026236738326843832927In-frame
ENST0000026236738419813842095In-frame
ENST0000026236738606033860780In-frame

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

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002623671082024423860603386078016091785266325
ENST000002623671082024423841981384209520272140405443
ENST000002623671082024423832684383292721412383443524
ENST000002623671082024423827613382765829242968704719
ENST000002623671082024423823751382393130943273761821
ENST000002623671082024423820570382098732743690821960
ENST00000262367108202442380172638018074509458912331259
ENST00000262367108202442379962737996844590464612601278
ENST00000262367108202442378957837897254944509013781426
ENST00000262367108202442378855937886735091520414271464
ENST00000262367108202442378603637862045371553815201576

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002623671082024423860603386078016091785266325
ENST000002623671082024423841981384209520272140405443
ENST000002623671082024423832684383292721412383443524
ENST000002623671082024423827613382765829242968704719
ENST000002623671082024423823751382393130943273761821
ENST000002623671082024423820570382098732743690821960
ENST00000262367108202442380172638018074509458912331259
ENST00000262367108202442379962737996844590464612601278
ENST00000262367108202442378957837897254944509013781426
ENST00000262367108202442378855937886735091520414271464
ENST00000262367108202442378603637862045371553815201576

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9279326632522442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793266325227410RegionNote=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10347196;Dbxref=PMID:10347196
Q92793266325266267SiteNote=Breakpoint for translocation to form KAT6A-CREBBP
Q92793405443406444Alternative sequenceID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9279340544322442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793405443409409Metal bindingNote=Zinc 2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443418418Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443422422Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443427427Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443430430Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443227410RegionNote=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10347196;Dbxref=PMID:10347196
Q92793405443347433Zinc fingerNote=TAZ-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00203
Q92793443524406444Alternative sequenceID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9279344352422442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793443524503503Natural variantID=VAR_072912;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=dbSNP:rs748447855,PMID:25388907
Q9279370471922442ChainID=PRO_0000211190;Note=CREB-binding protein
Q9279376182122442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793761821789789Natural variantID=VAR_072916;Note=In RSTS1. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=dbSNP:rs746728741,PMID:25388907
Q9279382196022442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793821960910910Natural variantID=VAR_072917;Note=In RSTS1%3B incomplete. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20684013;Dbxref=dbSNP:rs143247685,PMID:20684013
Q927931233125912341237Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931233125922442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931233125911991487Compositional biasNote=Cys/His-rich
Q927931233125912311233TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931233125912381240TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931260127812661272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931260127822442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931260127811991487Compositional biasNote=Cys/His-rich
Q927931260127812781278Natural variantID=VAR_072918;Note=In RSTS1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931260127812781278Natural variantID=VAR_035080;Note=In RSTS1%3B abolishes acetyltransferase activity. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12566391,ECO:0000269|PubMed:15706485;Dbxref=dbSNP:rs267606752,PMID:12566391,PMID:15706485
Q927931378142622442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931378142611991487Compositional biasNote=Cys/His-rich
Q927931378142613231700DomainNote=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01065
Q927931378142613821382Modified residueNote=Phosphoserine%3B by IKKA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17434128;Dbxref=PMID:17434128
Q927931378142613861386Modified residueNote=Phosphoserine%3B by IKKA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17434128;Dbxref=PMID:17434128
Q927931378142613781378Natural variantID=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
Q927931378142614061406Natural variantID=VAR_072919;Note=In RSTS1. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931378142614141414Natural variantID=VAR_027953;Note=V->I;Dbxref=dbSNP:rs130015
Q927931378142614151415Natural variantID=VAR_072920;Note=In RSTS1. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931427146422442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931427146411991487Compositional biasNote=Cys/His-rich
Q927931427146413231700DomainNote=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01065
Q927931427146414471447Natural variantID=VAR_035081;Note=In RSTS1. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15706485;Dbxref=PMID:15706485
Q927931427146414501450Natural variantID=VAR_035082;Note=In RSTS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15706485;Dbxref=PMID:15706485
Q927931427146414331435RegionNote=Interaction with histone;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q09472
Q927931427146414341436RegionNote=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q09472
Q927931427146414461447RegionNote=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q09472
Q927931427146414601891RegionNote=Interaction with TRERF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11349124;Dbxref=PMID:11349124
Q927931520157622442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931520157615551562Compositional biasNote=Poly-Glu
Q927931520157613231700DomainNote=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01065
Q927931520157615431543Natural variantID=VAR_072924;Note=In RSTS1. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931520157614601891RegionNote=Interaction with TRERF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11349124;Dbxref=PMID:11349124


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q9279326632522442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793266325227410RegionNote=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10347196;Dbxref=PMID:10347196
Q92793266325266267SiteNote=Breakpoint for translocation to form KAT6A-CREBBP
Q92793405443406444Alternative sequenceID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9279340544322442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793405443409409Metal bindingNote=Zinc 2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443418418Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443422422Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443427427Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443430430Metal bindingNote=Zinc 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q92793405443227410RegionNote=Interaction with SRCAP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10347196;Dbxref=PMID:10347196
Q92793405443347433Zinc fingerNote=TAZ-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00203
Q92793443524406444Alternative sequenceID=VSP_045700;Note=In isoform 2. VAHCASSRQIISHWKNCTRHDCPVCLPLKNASDKRNQQT->A;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4
Q9279344352422442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793443524503503Natural variantID=VAR_072912;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=dbSNP:rs748447855,PMID:25388907
Q9279370471922442ChainID=PRO_0000211190;Note=CREB-binding protein
Q9279376182122442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793761821789789Natural variantID=VAR_072916;Note=In RSTS1. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=dbSNP:rs746728741,PMID:25388907
Q9279382196022442ChainID=PRO_0000211190;Note=CREB-binding protein
Q92793821960910910Natural variantID=VAR_072917;Note=In RSTS1%3B incomplete. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20684013;Dbxref=dbSNP:rs143247685,PMID:20684013
Q927931233125912341237Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931233125922442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931233125911991487Compositional biasNote=Cys/His-rich
Q927931233125912311233TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931233125912381240TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931260127812661272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I8G
Q927931260127822442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931260127811991487Compositional biasNote=Cys/His-rich
Q927931260127812781278Natural variantID=VAR_072918;Note=In RSTS1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931260127812781278Natural variantID=VAR_035080;Note=In RSTS1%3B abolishes acetyltransferase activity. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12566391,ECO:0000269|PubMed:15706485;Dbxref=dbSNP:rs267606752,PMID:12566391,PMID:15706485
Q927931378142622442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931378142611991487Compositional biasNote=Cys/His-rich
Q927931378142613231700DomainNote=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01065
Q927931378142613821382Modified residueNote=Phosphoserine%3B by IKKA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17434128;Dbxref=PMID:17434128
Q927931378142613861386Modified residueNote=Phosphoserine%3B by IKKA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17434128;Dbxref=PMID:17434128
Q927931378142613781378Natural variantID=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
Q927931378142614061406Natural variantID=VAR_072919;Note=In RSTS1. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931378142614141414Natural variantID=VAR_027953;Note=V->I;Dbxref=dbSNP:rs130015
Q927931378142614151415Natural variantID=VAR_072920;Note=In RSTS1. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931427146422442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931427146411991487Compositional biasNote=Cys/His-rich
Q927931427146413231700DomainNote=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01065
Q927931427146414471447Natural variantID=VAR_035081;Note=In RSTS1. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15706485;Dbxref=PMID:15706485
Q927931427146414501450Natural variantID=VAR_035082;Note=In RSTS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15706485;Dbxref=PMID:15706485
Q927931427146414331435RegionNote=Interaction with histone;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q09472
Q927931427146414341436RegionNote=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q09472
Q927931427146414461447RegionNote=Acetyl-CoA binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q09472
Q927931427146414601891RegionNote=Interaction with TRERF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11349124;Dbxref=PMID:11349124
Q927931520157622442ChainID=PRO_0000211190;Note=CREB-binding protein
Q927931520157615551562Compositional biasNote=Poly-Glu
Q927931520157613231700DomainNote=CBP/p300-type HAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01065
Q927931520157615431543Natural variantID=VAR_072924;Note=In RSTS1. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25388907;Dbxref=PMID:25388907
Q927931520157614601891RegionNote=Interaction with TRERF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11349124;Dbxref=PMID:11349124


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SNVs in the skipped exons for CREBBP

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
CREBBP_CESC_exon_skip_141389_psi_boxplot.png
boxplot
CREBBP_READ_exon_skip_141389_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_141380
3786037378620437860713786071Frame_Shift_DelT-p.K1565fs
UCECTCGA-D1-A17D-01exon_skip_141386
exon_skip_141384
3789579378972537895913789591Frame_Shift_DelG-p.P1423fs
STADTCGA-CG-5733-01exon_skip_141386
exon_skip_141384
3789579378972537896293789629Frame_Shift_DelA-p.F1410fs
STADTCGA-CG-5733-01exon_skip_141386
exon_skip_141384
3789579378972537896293789629Frame_Shift_DelA-p.G1411fs
HNSCTCGA-F7-A624-01exon_skip_141394
3820571382098738206413820641Frame_Shift_DelG-p.P937fs
LIHCTCGA-DD-A3A0-01exon_skip_141394
3820571382098738206533820653Frame_Shift_DelG-p.P933fs
LIHCTCGA-G3-A3CJ-01exon_skip_141394
3820571382098738208103820810Frame_Shift_DelG-p.Q881fs
OVTCGA-13-0724-01exon_skip_141394
3820571382098738209363820942Frame_Shift_DelGAGGCCC-p.G837fs
LIHCTCGA-DD-A39Y-01exon_skip_141395
3823752382393138238623823862Frame_Shift_DelC-p.A785fs
BLCATCGA-CF-A9FL-01exon_skip_141398
3828701382881838287573828778Frame_Shift_DelGGTTTTCCATGCGGCGATCCTT-p.KDRRMENL622fs
LIHCTCGA-DD-A1EG-01exon_skip_141398
3828701382881838287883828788Frame_Shift_DelG-p.P618fs
LGGTCGA-HT-8011-01exon_skip_141398
3828701382881838287953828795Frame_Shift_DelG-p.P616fs
LIHCTCGA-DD-A1EG-01exon_skip_141403
3860604386078038606933860693Frame_Shift_DelG-p.Q296fs
LIHCTCGA-DD-A39Y-01exon_skip_141403
3860604386078038606933860693Frame_Shift_DelG-p.Q296fs
LIHCTCGA-DD-A1EG-01exon_skip_141403
3860604386078038607133860713Frame_Shift_DelC-p.G289fs
SARCTCGA-DX-AB2J-01exon_skip_141404
3900298390101039005533900553Frame_Shift_DelA-p.F181fs
TGCTTCGA-YU-A94I-01exon_skip_141404
3900298390101039005533900554Frame_Shift_DelAA-p.181_182del
TGCTTCGA-YU-A94I-01exon_skip_141404
3900298390101039005533900554Frame_Shift_DelAA-p.F181fs
LIHCTCGA-DD-A1EG-01exon_skip_141404
3900298390101039006263900626Frame_Shift_DelT-p.K157fs
ESCATCGA-L5-A8NM-01exon_skip_141404
3900298390101039006613900661Frame_Shift_DelG-p.A146fs
ESCATCGA-L5-A8NM-01exon_skip_141404
3900298390101039006613900661Frame_Shift_DelG-p.P145fs
BRCATCGA-AN-A0AT-01exon_skip_141395
3823752382393138238243823825Frame_Shift_Ins-Tp.N797fs
BLCATCGA-DK-A1AD-01exon_skip_141380
3786037378620437861483786148Nonsense_MutationACp.Y1539*
ESCATCGA-L5-A4OJ-01exon_skip_141386
exon_skip_141384
3789579378972537895963789596Nonsense_MutationGTp.C1421*
ESCATCGA-L5-A4OJ-01exon_skip_141386
exon_skip_141384
3789579378972537895963789596Nonsense_MutationGTp.C1421X
UCECTCGA-AP-A059-01exon_skip_141386
exon_skip_141384
3789579378972537896083789608Nonsense_MutationGTp.Y1417*
HNSCTCGA-UF-A7JA-01exon_skip_141386
exon_skip_141384
3789579378972537896163789616Nonsense_MutationGAp.Q1415*
BLCATCGA-DK-A6AW-01exon_skip_141386
exon_skip_141384
3789579378972537896853789685Nonsense_MutationGAp.R1392*
READTCGA-EI-6507-01exon_skip_141389
3801727380180738017313801731Nonsense_MutationGAp.Q1259X
ESCATCGA-JY-A6FE-01exon_skip_141394
3820571382098738205883820588Nonsense_MutationGAp.Q955*
ESCATCGA-JY-A6FE-01exon_skip_141394
3820571382098738205883820588Nonsense_MutationGAp.Q955X
LUSCTCGA-21-1081-01exon_skip_141394
3820571382098738206243820624Nonsense_MutationGAp.Q943*
BLCATCGA-DK-AA6U-01exon_skip_141394
3820571382098738207203820720Nonsense_MutationGAp.Q911*
BLCATCGA-GV-A3JX-01exon_skip_141394
3820571382098738207853820785Nonsense_MutationGCp.S889*
BLCATCGA-BT-A20T-01exon_skip_141394
3820571382098738207923820792Nonsense_MutationGAp.Q887*
HNSCTCGA-P3-A5QF-01exon_skip_141394
3820571382098738207923820792Nonsense_MutationGAp.Q887*
BLCATCGA-CF-A47X-01exon_skip_141394
3820571382098738209363820936Nonsense_MutationGAp.Q839*
BLCATCGA-G2-A2EO-01exon_skip_141395
3823752382393138239043823904Nonsense_MutationGAp.Q771*
LUSCTCGA-34-2600-01exon_skip_141400
3832685383292738327513832751Nonsense_MutationGAp.Q503*
THYMTCGA-X7-A8DD-01exon_skip_141402
3841982384209538419943841994Nonsense_MutationGAp.R440X
BLCATCGA-PQ-A6FI-01exon_skip_141402
3841982384209538419973841997Nonsense_MutationTAp.K439*
GBMTCGA-06-0749-01exon_skip_141402
3841982384209538420563842056Nonsense_MutationCTp.W419*
READTCGA-CI-6620-01exon_skip_141386
exon_skip_141384
3789579378972537897263789726Splice_SiteCT.
CESCTCGA-Q1-A6DV-01exon_skip_141388
3799628379968437996253799626Splice_Site-Ae21+2
CESCTCGA-FU-A3TX-01exon_skip_141389
3801727380180738017263801726Splice_SiteCTe20+1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
CREBBP_3799627_3799684_3801726_3801807_3807288_3807377_TCGA-FU-A3TX-01Sample: TCGA-FU-A3TX-01
Cancer type: CESC
ESID: exon_skip_141389
Skipped exon start: 3801727
Skipped exon end: 3801807
Mutation start: 3801726
Mutation end: 3801726
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: e20+1
exon_skip_141389_CESC_TCGA-FU-A3TX-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH508_LARGE_INTESTINE3786037378620437861453786145Frame_Shift_DelA-p.F1540fs
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3801727380180738017403801740Frame_Shift_DelA-p.S1256fs
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3823752382393138237933823793Frame_Shift_DelC-p.V808fs
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3832685383292738328493832849Frame_Shift_DelA-p.L470fs
BICR18_UPPER_AERODIGESTIVE_TRACT3860604386078038606553860658Frame_Shift_DelGGGC-p.LP307fs
STM9101_SOFT_TISSUE3900298390101039009143900914Frame_Shift_DelG-p.P61fs
BICR18_UPPER_AERODIGESTIVE_TRACT3860604386078038606483860649Frame_Shift_Ins-AAAAp.P311fs
BICR18_UPPER_AERODIGESTIVE_TRACT3900298390101039009483900950In_Frame_DelCTC-p.G49del
SNUC5_LARGE_INTESTINE3786037378620437860453786045Missense_MutationTCp.T1574A
EN_ENDOMETRIUM3786037378620437860473786047Missense_MutationTGp.E1573A
NCIH211_LUNG3786037378620437860753786075Missense_MutationTCp.K1564E
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3786037378620437860763786076Missense_MutationCAp.R1563S
JHUEM7_ENDOMETRIUM3786037378620437861043786104Missense_MutationTGp.K1554T
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3786037378620437861173786117Missense_MutationCTp.E1550K
SNU1040_LARGE_INTESTINE3786037378620437861283786128Missense_MutationGTp.P1546H
DJM1_SKIN3786037378620437861383786138Missense_MutationCGp.D1543H
TE10_OESOPHAGUS3786037378620437861493786149Missense_MutationTCp.Y1539C
SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3788560378867337886053788605Missense_MutationTCp.Y1450C
NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3788560378867337886173788617Missense_MutationCAp.R1446L
SNU81_LARGE_INTESTINE3788560378867337886173788617Missense_MutationCTp.R1446H
NCIH520_LUNG3788560378867337886183788618Missense_MutationGAp.R1446C
NCIH835_LUNG3788560378867337886183788618Missense_MutationGAp.R1446C
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3788560378867337886343788634Missense_MutationGTp.F1440L
SW756_CERVIX3788560378867337886473788647Missense_MutationCTp.S1436N
OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3788560378867337886493788649Missense_MutationATp.D1435E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3788560378867337886603788660Missense_MutationAGp.S1432P
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3789579378972537895973789597Missense_MutationCAp.C1421F
HARA_LUNG3789579378972537896433789643Missense_MutationCGp.D1406H
SNU1040_LARGE_INTESTINE3789579378972537896453789645Missense_MutationAGp.V1405A
TEN_ENDOMETRIUM3789579378972537896463789646Missense_MutationCTp.V1405M
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3801727380180738017963801796Missense_MutationCTp.C1237Y
MM127_SKIN3820571382098738205733820573Missense_MutationGTp.P960T
CP66MEL_SKIN3820571382098738206423820642Missense_MutationGAp.P937S
SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3820571382098738206693820669Missense_MutationGCp.P928A
EPLC272H_LUNG3820571382098738206893820689Missense_MutationGAp.A921V
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3820571382098738207493820749Missense_MutationGAp.P901L
OCILY10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3820571382098738207493820749Missense_MutationGAp.P901L
K5_THYROID3820571382098738207523820752Missense_MutationGCp.T900S
EN_ENDOMETRIUM3820571382098738208193820819Missense_MutationTCp.T878A
SNU216_STOMACH3820571382098738208343820834Missense_MutationTCp.T873A
MFE319_ENDOMETRIUM3820571382098738208363820836Missense_MutationGTp.T872K
NCIH2795_PLEURA3820571382098738208363820836Missense_MutationGAp.T872M
RKO_LARGE_INTESTINE3820571382098738208543820854Missense_MutationAGp.M866T
JHH1_LIVER3820571382098738209593820959Missense_MutationTCp.N831S
NCIH650_LUNG3823752382393138238013823801Missense_MutationGTp.A805E
SNU1040_LARGE_INTESTINE3823752382393138238163823816Missense_MutationGAp.P800L
HEC108_ENDOMETRIUM3823752382393138238323823832Missense_MutationGAp.P795S
SW403_LARGE_INTESTINE3823752382393138238903823890Missense_MutationCTp.M775I
59M_OVARY3823752382393138238973823897Missense_MutationGAp.P773L
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3828701382881838287833828783Missense_MutationGAp.A620V
SNU520_STOMACH3832685383292738327803832780Missense_MutationAGp.M493T
CCK81_LARGE_INTESTINE3832685383292738328133832813Missense_MutationTCp.Q482R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3832685383292738328743832875Missense_MutationTGCAp.T462A
COLO792_SKIN3832685383292738329123832912Missense_MutationGAp.P449L
CORL88_LUNG3841982384209538420803842080Missense_MutationGAp.S411F
BICR18_UPPER_AERODIGESTIVE_TRACT3860604386078038606173860617Missense_MutationTGp.N321T
JHU011_UPPER_AERODIGESTIVE_TRACT3860604386078038606583860658Missense_MutationCAp.L307F
HEC59_ENDOMETRIUM3900298390101039003533900353Missense_MutationGAp.P248L
EFO27_OVARY3900298390101039003533900353Missense_MutationGAp.P248L
SNGM_ENDOMETRIUM3900298390101039003653900365Missense_MutationGAp.T244M
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3900298390101039004343900434Missense_MutationCAp.G221V
SNUC2A_LARGE_INTESTINE3900298390101039004793900479Missense_MutationGAp.A206V
SNUC2B_LARGE_INTESTINE3900298390101039004793900479Missense_MutationGAp.A206V
22RV1_PROSTATE3900298390101039005213900521Missense_MutationTCp.N192S
RCCJF_KIDNEY3900298390101039006273900627Missense_MutationTGp.K157Q
OC316_OVARY3900298390101039006803900680Missense_MutationCTp.S139N
OC314_OVARY3900298390101039006803900680Missense_MutationCTp.S139N
LNCAPCLONEFGC_PROSTATE3900298390101039007673900767Missense_MutationGAp.A110V
LN235_CENTRAL_NERVOUS_SYSTEM3900298390101039007763900776Missense_MutationGAp.P107L
NCIH2122_LUNG3900298390101039008483900848Missense_MutationTGp.N83T
OVK18_OVARY3900298390101039008933900893Missense_MutationTCp.K68R
NCIBL2009_MATCHED_NORMAL_TISSUE3900298390101039008963900896Missense_MutationTCp.H67R
NCIH2009_LUNG3900298390101039008963900896Missense_MutationTCp.H67R
CAL62_THYROID3786037378620437861443786144Nonsense_MutationCAp.E1541*
PEO1_OVARY3801727380180738017943801794Nonsense_MutationCAp.E1238*
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3801727380180738017943801794Nonsense_MutationCAp.E1238*
PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT3820571382098738206243820624Nonsense_MutationGAp.Q943*
EVSAT_BREAST3820571382098738206483820648Nonsense_MutationGAp.Q935*
MFE319_ENDOMETRIUM3820571382098738206663820666Nonsense_MutationGAp.Q929*
OVCAR8_OVARY3820571382098738207733820773Nonsense_MutationGTp.S893*
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3823752382393138238473823847Nonsense_MutationGAp.Q790*
NCIH1105_LUNG3841982384209538419853841985Nonsense_MutationGAp.Q443*
VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3900298390101039004023900402Nonsense_MutationGAp.Q232*
NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE3900298390101039005883900588Nonsense_MutationGAp.Q170*
SBC1_LUNG3900298390101039009543900954Nonsense_MutationCAp.G48*
MCC142_SKIN3786037378620437862043786204Splice_SiteCTp.D1521N
HEC6_ENDOMETRIUM3788560378867337886723788672Splice_SiteGAp.R1428C
SNGM_ENDOMETRIUM3832685383292738326863832686Splice_SiteCTp.L524L

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CREBBP


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CREBBP


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RelatedDrugs for CREBBP

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CREBBP

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CREBBPC0035934Rubinstein-Taybi Syndrome3CTD_human;ORPHANET;UNIPROT
CREBBPC0033578Prostatic Neoplasms2CTD_human
CREBBPC0005586Bipolar Disorder1PSYGENET
CREBBPC0005695Bladder Neoplasm1CTD_human
CREBBPC0007137Squamous cell carcinoma1CTD_human
CREBBPC0007138Carcinoma, Transitional Cell1CTD_human
CREBBPC0010606Adenoid Cystic Carcinoma1CTD_human
CREBBPC0011573Endogenous depression1PSYGENET
CREBBPC0024301Lymphoma, Follicular1CTD_human
CREBBPC0036341Schizophrenia1PSYGENET
CREBBPC0036920Sezary Syndrome1CTD_human
CREBBPC0149925Small cell carcinoma of lung1CTD_human
CREBBPC0152013Adenocarcinoma of lung (disorder)1CTD_human
CREBBPC0279626Squamous cell carcinoma of esophagus1CTD_human
CREBBPC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human