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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CREBBP-BCORL1 (FusionGDB2 ID:HG1387TG63035)

Fusion Gene Summary for CREBBP-BCORL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CREBBP-BCORL1
Fusion gene ID: hg1387tg63035
HgeneTgene
Gene symbol

CREBBP

BCORL1

Gene ID

1387

63035

Gene nameCREB binding proteinBCL6 corepressor like 1
SynonymsCBP|KAT3A|MKHK1|RSTS|RSTS1BCoR-L1|CXorf10|SHUVER
Cytomap('CREBBP')('BCORL1')

16p13.3

Xq26.1

Type of geneprotein-codingprotein-coding
DescriptionCREB-binding proteinhistone lysine acetyltransferase CREBBPprotein-lysine acetyltransferase CREBBPBCL-6 corepressor-like protein 1BCoR-like protein 1
Modification date2020032920200313
UniProtAcc

Q92793

Q5H9F3

Ensembl transtripts involved in fusion geneENST00000262367, ENST00000382070, 
Fusion gene scores* DoF score43 X 38 X 17=277786 X 6 X 3=108
# samples 616
** MAII scorelog2(61/27778*10)=-5.50898967694577
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CREBBP [Title/Abstract] AND BCORL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
Anticipated loss of major functional domain due to fusion event.
* 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|24207024|24939902|28790157|30540930

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

HgeneCREBBP

GO:1990258

histone glutamine methylation

30540930



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerKB4..CREBBPchr16

3781474

-BCORL1chrX

3781474

+


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Fusion Gene ORF analysis for CREBBP-BCORL1

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-intronENST00000262367ENST00000218147CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000262367ENST00000303743CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000262367ENST00000359304CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000262367ENST00000540052CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000262367ENST00000607874CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000382070ENST00000218147CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000382070ENST00000303743CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000382070ENST00000359304CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000382070ENST00000540052CREBBPchr16

3781474

-BCORL1chrX

3781474

+
intron-intronENST00000382070ENST00000607874CREBBPchr16

3781474

-BCORL1chrX

3781474

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CREBBP-BCORL1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for CREBBP-BCORL1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q92793

BCORL1

Q5H9F3

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). {ECO:0000269|PubMed:10490106, ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:12738767, ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:24207024, ECO:0000269|PubMed:24616510, ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:25514493, ECO:0000269|PubMed:28790157, ECO:0000269|PubMed:30540930, ECO:0000269|PubMed:9707565}.FUNCTION: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. {ECO:0000269|PubMed:17379597}.

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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Fusion Gene Sequence for CREBBP-BCORL1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CREBBP-BCORL1


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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Related Drugs for CREBBP-BCORL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CREBBP-BCORL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCREBBPC4551859RUBINSTEIN-TAYBI SYNDROME 112CLINGEN;GENOMICS_ENGLAND;UNIPROT
HgeneCREBBPC0035934Rubinstein-Taybi Syndrome6CLINGEN;CTD_human
HgeneCREBBPC0033578Prostatic Neoplasms2CTD_human
HgeneCREBBPC0376358Malignant neoplasm of prostate2CTD_human
HgeneCREBBPC4511003Acute myeloid leukemia with t(8;16)(p11;p13) translocation2ORPHANET
HgeneCREBBPC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneCREBBPC0005695Bladder Neoplasm1CTD_human
HgeneCREBBPC0007137Squamous cell carcinoma1CTD_human
HgeneCREBBPC0007138Carcinoma, Transitional Cell1CTD_human
HgeneCREBBPC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneCREBBPC0011573Endogenous depression1PSYGENET
HgeneCREBBPC0024301Lymphoma, Follicular1CTD_human
HgeneCREBBPC0036920Sezary Syndrome1CTD_human
HgeneCREBBPC0079745Lymphoma, Large-Cell, Follicular1CTD_human
HgeneCREBBPC0079758Lymphoma, Mixed-Cell, Follicular1CTD_human
HgeneCREBBPC0079765Lymphoma, Small Cleaved-Cell, Follicular1CTD_human
HgeneCREBBPC0149925Small cell carcinoma of lung1CTD_human
HgeneCREBBPC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneCREBBPC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneCREBBPC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
HgeneCREBBPC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
HgeneCREBBPC1956130Lymphoma, Follicular, Grade 11CTD_human
HgeneCREBBPC1956131Lymphoma, Follicular, Grade 31CTD_human
HgeneCREBBPC1956132Lymphoma, Follicular, Grade 21CTD_human
HgeneCREBBPC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0027708Nephroblastoma1CTD_human
TgeneC0233514Abnormal behavior1GENOMICS_ENGLAND
TgeneC2930471Bilateral Wilms Tumor1CTD_human