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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:TBCD-STXBP4 (FusionGDB2 ID:89481)

Fusion Gene Summary for TBCD-STXBP4

check button Fusion gene summary
Fusion gene informationFusion gene name: TBCD-STXBP4
Fusion gene ID: 89481
HgeneTgene
Gene symbol

TBCD

STXBP4

Gene ID

6904

252983

Gene nametubulin folding cofactor Dsyntaxin binding protein 4
SynonymsPEBAT|SSD-1|tfcDSynip
Cytomap

17q25.3

17q22

Type of geneprotein-codingprotein-coding
Descriptiontubulin-specific chaperone Dbeta-tubulin cofactor Dsyntaxin-binding protein 4STX4-interacting proteinsyntaxin 4 interacting protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000355528, ENST00000397466, 
ENST00000539345, ENST00000576691, 
ENST00000299341, ENST00000376352, 
ENST00000398391, ENST00000405898, 
ENST00000434978, 
Fusion gene scores* DoF score20 X 23 X 13=598015 X 12 X 9=1620
# samples 2716
** MAII scorelog2(27/5980*10)=-4.46911417203464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1620*10)=-3.33985000288463
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBCD [Title/Abstract] AND STXBP4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBCD(80863929)-STXBP4(53218671), # samples:2
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
HgeneTBCD

GO:0006457

protein folding

20740604

HgeneTBCD

GO:0007021

tubulin complex assembly

28158450

HgeneTBCD

GO:0007023

post-chaperonin tubulin folding pathway

11847227

HgeneTBCD

GO:0031115

negative regulation of microtubule polymerization

10831612|20740604

TgeneSTXBP4

GO:0006974

cellular response to DNA damage stimulus

19451233

TgeneSTXBP4

GO:0061178

regulation of insulin secretion involved in cellular response to glucose stimulus

12855681


check buttonFusion gene breakpoints across TBCD (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 STXBP4 (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
ChimerDB4BRCATCGA-EW-A1OX-01ATBCDchr17

80863929

+STXBP4chr17

53218671

+
ChimerDB4BRCATCGA-EW-A1OX-01ATBCDchr17

80867183

+STXBP4chr17

53218671

+


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Fusion Gene ORF analysis for TBCD-STXBP4

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-intronENST00000355528ENST00000299341TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000299341TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000376352TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000376352TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000398391TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000398391TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000405898TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000405898TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000434978TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000355528ENST00000434978TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000397466ENST00000299341TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000397466ENST00000376352TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000397466ENST00000398391TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000397466ENST00000405898TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000397466ENST00000434978TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000299341TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000299341TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000376352TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000376352TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000398391TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000398391TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000405898TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000405898TBCDchr17

80867183

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000434978TBCDchr17

80863929

+STXBP4chr17

53218671

+
5CDS-intronENST00000539345ENST00000434978TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000397466ENST00000299341TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000397466ENST00000376352TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000397466ENST00000398391TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000397466ENST00000405898TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000397466ENST00000434978TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000299341TBCDchr17

80863929

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000299341TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000376352TBCDchr17

80863929

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000376352TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000398391TBCDchr17

80863929

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000398391TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000405898TBCDchr17

80863929

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000405898TBCDchr17

80867183

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000434978TBCDchr17

80863929

+STXBP4chr17

53218671

+
intron-intronENST00000576691ENST00000434978TBCDchr17

80867183

+STXBP4chr17

53218671

+

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 TBCD-STXBP4


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)
TBCDchr1780867183+STXBP4chr1753218670+0.228177120.77182287
TBCDchr1780863929+STXBP4chr1753218670+0.0039749840.99602497
TBCDchr1780867183+STXBP4chr1753218670+0.228177120.77182287
TBCDchr1780863929+STXBP4chr1753218670+0.0039749840.99602497

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 TBCD-STXBP4


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/:80863929/:53218671)
- 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
..
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: 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}.

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 TBCD-STXBP4


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 TBCD-STXBP4


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 TBCD-STXBP4


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 TBCD-STXBP4


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