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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:CBFB-CES4A (FusionGDB2 ID:13364)

Fusion Gene Summary for CBFB-CES4A

check button Fusion gene summary
Fusion gene informationFusion gene name: CBFB-CES4A
Fusion gene ID: 13364
HgeneTgene
Gene symbol

CBFB

CES4A

Gene ID

865

283848

Gene namecore-binding factor subunit betacarboxylesterase 4A
SynonymsPEBP2BCES6|CES8
Cytomap

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
Descriptioncore-binding factor subunit betaCBF-betaPEA2-betaPEBP2-betaSL3-3 enhancer factor 1 beta subunitSL3-3 enhancer factor 1 subunit betaSL3/AKV core-binding factor beta subunitcore-binding factor beta subunitpolyomavirus enhancer binding protein 2, betcarboxylesterase 4Acarboxylesterase 6carboxylesterase 8 (putative)
Modification date2020032020200313
UniProtAcc.

Q5XG92

Ensembl transtripts involved in fusion geneENST00000290858, ENST00000412916, 
ENST00000561924, ENST00000568858, 
ENST00000535696, ENST00000540579, 
ENST00000397205, ENST00000326686, 
ENST00000338718, ENST00000398354, 
ENST00000540947, ENST00000541479, 
Fusion gene scores* DoF score17 X 18 X 12=36724 X 6 X 4=96
# samples 336
** MAII scorelog2(33/3672*10)=-3.47602812916799
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBFB [Title/Abstract] AND CES4A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCBFB(67070658)-CES4A(67029531), # samples:2
CBFB(67070658)-CES4A(67029530), # samples:2
Anticipated loss of major functional domain due to fusion event.CBFB-CES4A seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across CBFB (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CES4A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4COADTCGA-AA-3850CBFBchr16

67070658

+CES4Achr16

67029530

+
ChimerDB4HNSCTCGA-CN-6988-01ACBFBchr16

67070658

-CES4Achr16

67034541

+
ChimerDB4OVTCGA-29-1697-01ACBFBchr16

67070658

+CES4Achr16

67029531

+
ChimerDB4OVTCGA-29-1697CBFBchr16

67070658

+CES4Achr16

67029530

+


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Fusion Gene ORF analysis for CBFB-CES4A

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
5CDS-5UTRENST00000290858ENST00000535696CBFBchr16

67070658

-CES4Achr16

67034541

+
5CDS-5UTRENST00000290858ENST00000540579CBFBchr16

67070658

-CES4Achr16

67034541

+
5CDS-5UTRENST00000412916ENST00000535696CBFBchr16

67070658

-CES4Achr16

67034541

+
5CDS-5UTRENST00000412916ENST00000540579CBFBchr16

67070658

-CES4Achr16

67034541

+
5CDS-intronENST00000290858ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029530

+
5CDS-intronENST00000290858ENST00000397205CBFBchr16

67070658

-CES4Achr16

67034541

+
5CDS-intronENST00000290858ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029531

+
5CDS-intronENST00000290858ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029530

+
5CDS-intronENST00000290858ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029531

+
5CDS-intronENST00000290858ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029530

+
5CDS-intronENST00000290858ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029531

+
5CDS-intronENST00000412916ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029530

+
5CDS-intronENST00000412916ENST00000397205CBFBchr16

67070658

-CES4Achr16

67034541

+
5CDS-intronENST00000412916ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029531

+
5CDS-intronENST00000412916ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029530

+
5CDS-intronENST00000412916ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029531

+
5CDS-intronENST00000412916ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029530

+
5CDS-intronENST00000412916ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-3CDSENST00000561924ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-3CDSENST00000561924ENST00000326686CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-3CDSENST00000561924ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-3CDSENST00000561924ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-3CDSENST00000561924ENST00000338718CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-3CDSENST00000561924ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-3CDSENST00000561924ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-3CDSENST00000561924ENST00000398354CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-3CDSENST00000561924ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-3CDSENST00000561924ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-3CDSENST00000561924ENST00000540947CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-3CDSENST00000561924ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-3CDSENST00000561924ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-3CDSENST00000561924ENST00000541479CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-3CDSENST00000561924ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-5UTRENST00000561924ENST00000535696CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-5UTRENST00000561924ENST00000540579CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-intronENST00000561924ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-intronENST00000561924ENST00000397205CBFBchr16

67070658

-CES4Achr16

67034541

+
5UTR-intronENST00000561924ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-intronENST00000561924ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-intronENST00000561924ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029531

+
5UTR-intronENST00000561924ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029530

+
5UTR-intronENST00000561924ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000290858ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000290858ENST00000326686CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000290858ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000290858ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000290858ENST00000338718CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000290858ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000290858ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000290858ENST00000398354CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000290858ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000290858ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000290858ENST00000540947CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000290858ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000290858ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000290858ENST00000541479CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000290858ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000412916ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000412916ENST00000326686CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000412916ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000412916ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000412916ENST00000338718CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000412916ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000412916ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000412916ENST00000398354CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000412916ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000412916ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000412916ENST00000540947CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000412916ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029531

+
Frame-shiftENST00000412916ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029530

+
Frame-shiftENST00000412916ENST00000541479CBFBchr16

67070658

-CES4Achr16

67034541

+
Frame-shiftENST00000412916ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-3CDSENST00000568858ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-3CDSENST00000568858ENST00000326686CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-3CDSENST00000568858ENST00000326686CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-3CDSENST00000568858ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-3CDSENST00000568858ENST00000338718CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-3CDSENST00000568858ENST00000338718CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-3CDSENST00000568858ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-3CDSENST00000568858ENST00000398354CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-3CDSENST00000568858ENST00000398354CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-3CDSENST00000568858ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-3CDSENST00000568858ENST00000540947CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-3CDSENST00000568858ENST00000540947CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-3CDSENST00000568858ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-3CDSENST00000568858ENST00000541479CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-3CDSENST00000568858ENST00000541479CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-5UTRENST00000568858ENST00000535696CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-5UTRENST00000568858ENST00000540579CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-intronENST00000568858ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-intronENST00000568858ENST00000397205CBFBchr16

67070658

-CES4Achr16

67034541

+
intron-intronENST00000568858ENST00000397205CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-intronENST00000568858ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-intronENST00000568858ENST00000535696CBFBchr16

67070658

+CES4Achr16

67029531

+
intron-intronENST00000568858ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029530

+
intron-intronENST00000568858ENST00000540579CBFBchr16

67070658

+CES4Achr16

67029531

+

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 CBFB-CES4A


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)
CBFBchr1667070658+CES4Achr1667029530+1.39E-101
CBFBchr1667070658+CES4Achr1667029530+1.39E-101
CBFBchr1667070658+CES4Achr1667029530+1.39E-101
CBFBchr1667070658+CES4Achr1667029530+1.39E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for CBFB-CES4A


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/:67070658/:67029531)
- 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
.CES4A

Q5XG92

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Probable carboxylesterase. {ECO:0000250}.

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 CBFB-CES4A


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 CBFB-CES4A


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 CBFB-CES4A


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 CBFB-CES4A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource