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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 8426

FusionGeneSummary for CREBBP_CREB3L2

check button Fusion gene summary
Fusion gene informationFusion gene name: CREBBP_CREB3L2
Fusion gene ID: 8426
HgeneTgene
Gene symbol

CREBBP

CREB3L2

Gene ID

1387

64764

Gene nameCREB binding proteincAMP responsive element binding protein 3 like 2
SynonymsCBP|KAT3A|RSTS|RSTS1BBF2H7
Cytomap

16p13.3

7q33

Type of geneprotein-codingprotein-coding
DescriptionCREB-binding proteincyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2
Modification date2018052220180523
UniProtAcc

Q92793

Q70SY1

Ensembl transtripts involved in fusion geneENST00000262367, ENST00000382070, 
ENST00000330387, ENST00000456390, 
ENST00000452463, ENST00000458726, 
ENST00000468127, 
Fusion gene scores* DoF score25 X 18 X 14=63003 X 5 X 1=15
# samples 345
** MAII scorelog2(34/6300*10)=-4.21174517713694
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/15*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CREBBP [Title/Abstract] AND CREB3L2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCREBBP

GO:0000122

negative regulation of transcription by RNA polymerase II

21539536

HgeneCREBBP

GO:0006355

regulation of transcription, DNA-templated

12169688

HgeneCREBBP

GO:0006473

protein acetylation

15273251|24939902

HgeneCREBBP

GO:0016573

histone acetylation

11742995

HgeneCREBBP

GO:0018076

N-terminal peptidyl-lysine acetylation

12435739

HgeneCREBBP

GO:0034644

cellular response to UV

24939902

HgeneCREBBP

GO:0045893

positive regulation of transcription, DNA-templated

11742995

TgeneCREB3L2

GO:0045893

positive regulation of transcription, DNA-templated

17178827


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BI000845CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000262367ENST00000330387CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000262367ENST00000456390CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000262367ENST00000452463CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000262367ENST00000458726CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000262367ENST00000468127CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000382070ENST00000330387CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000382070ENST00000456390CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000382070ENST00000452463CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000382070ENST00000458726CREBBPchr16

3781792

-CREB3L2chr7

137584036

+
intron-intronENST00000382070ENST00000468127CREBBPchr16

3781792

-CREB3L2chr7

137584036

+

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FusionProtFeatures for CREBBP_CREB3L2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CREBBP

Q92793

CREB3L2

Q70SY1

Acetylates histones, giving a specific tag fortranscriptional activation. Also acetylates non-histone proteins,like NCOA3 and FOXO1. Binds specifically to phosphorylated CREBand enhances its transcriptional activity toward cAMP-responsivegenes. Acts as a coactivator of ALX1. Acts as a circadiantranscriptional coactivator which enhances the activity of thecircadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotesremoval of chromatin-bound PCNA and its degradation duringnucleotide excision repair (NER) (PubMed:24939902).{ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:12738767,ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221,ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:9707565}. Transcription factor involved in unfolded proteinresponse (UPR). In the absence of endoplasmic reticulum (ER)stress, inserted into ER membranes, with N-terminal DNA-bindingand transcription activation domains oriented toward the cytosolicface of the membrane. In response to ER stress, transported to theGolgi, where it is cleaved in a site-specific manner by residentproteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminalcytosolic domain is translocated to the nucleus to effecttranscription of specific target genes. Plays a critical role inchondrogenesis by activating the transcription of SEC23A, whichpromotes the transport and secretion of cartilage matrix proteins,and possibly that of ER biogenesis-related genes (By similarity).In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcriptionof target genes via direct binding to the CRE site(PubMed:17178827). {ECO:0000250|UniProtKB:Q8BH52,ECO:0000269|PubMed:17178827}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CREBBP_CREB3L2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CREBBP_CREB3L2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CREBBP_CREB3L2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CREBBP_CREB3L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCREBBPC0035934Rubinstein-Taybi Syndrome3CTD_human;ORPHANET;UNIPROT
HgeneCREBBPC0033578Prostatic Neoplasms2CTD_human
HgeneCREBBPC0005586Bipolar Disorder1PSYGENET
HgeneCREBBPC0005695Bladder Neoplasm1CTD_human
HgeneCREBBPC0007137Squamous cell carcinoma1CTD_human
HgeneCREBBPC0007138Carcinoma, Transitional Cell1CTD_human
HgeneCREBBPC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneCREBBPC0011573Endogenous depression1PSYGENET
HgeneCREBBPC0024301Lymphoma, Follicular1CTD_human
HgeneCREBBPC0036341Schizophrenia1PSYGENET
HgeneCREBBPC0036920Sezary Syndrome1CTD_human
HgeneCREBBPC0149925Small cell carcinoma of lung1CTD_human
HgeneCREBBPC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneCREBBPC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneCREBBPC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human