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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:TMBIM6-ETS1 (FusionGDB2 ID:91312)

Fusion Gene Summary for TMBIM6-ETS1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMBIM6-ETS1
Fusion gene ID: 91312
HgeneTgene
Gene symbol

TMBIM6

ETS1

Gene ID

7009

2113

Gene nametransmembrane BAX inhibitor motif containing 6ETS proto-oncogene 1, transcription factor
SynonymsBAXI1|BI-1|TEGTETS-1|EWSR2|c-ets-1|p54
Cytomap

12q13.12

11q24.3

Type of geneprotein-codingprotein-coding
Descriptionbax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6protein C-ets-1Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1v-ets avian erythroblastosis virus E2 oncogene homolog 1v-ets avian erythroblastosis virus E26 oncogene homolog 1
Modification date2020031320200322
UniProtAcc.

P14921

Ensembl transtripts involved in fusion geneENST00000267115, ENST00000423828, 
ENST00000395006, ENST00000547798, 
ENST00000548589, ENST00000549385, 
ENST00000552699, 		ENST00000319397, 
ENST00000345075, ENST00000392668, 
ENST00000525404, ENST00000526145, 
ENST00000531611, ENST00000535549, 
Fusion gene scores* DoF score18 X 20 X 7=25208 X 6 X 3=144
# samples 218
** MAII scorelog2(21/2520*10)=-3.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMBIM6 [Title/Abstract] AND ETS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMBIM6(50158716)-ETS1(128386450), # samples:1
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
HgeneTMBIM6

GO:0010523

negative regulation of calcium ion transport into cytosol

26582200

HgeneTMBIM6

GO:0032091

negative regulation of protein binding

19328063

HgeneTMBIM6

GO:0033119

negative regulation of RNA splicing

19328063

HgeneTMBIM6

GO:0034620

cellular response to unfolded protein

19328063

HgeneTMBIM6

GO:0060702

negative regulation of endoribonuclease activity

19328063

HgeneTMBIM6

GO:1902065

response to L-glutamate

21075086

HgeneTMBIM6

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

21075086

HgeneTMBIM6

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

21075086

HgeneTMBIM6

GO:2001234

negative regulation of apoptotic signaling pathway

21075086

TgeneETS1

GO:0030578

PML body organization

11909962|15247905

TgeneETS1

GO:0045648

positive regulation of erythrocyte differentiation

8620536

TgeneETS1

GO:0045893

positive regulation of transcription, DNA-templated

11909962

TgeneETS1

GO:0045944

positive regulation of transcription by RNA polymerase II

15001984|15247905

TgeneETS1

GO:0050729

positive regulation of inflammatory response

21310411

TgeneETS1

GO:0061614

pri-miRNA transcription by RNA polymerase II

21711453


check buttonFusion gene breakpoints across TMBIM6 (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 ETS1 (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
ChiTaRS5.0N/AFN110174TMBIM6chr12

50158716

+ETS1chr11

128386450

+


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Fusion Gene ORF analysis for TMBIM6-ETS1

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-intronENST00000267115ENST00000319397TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000267115ENST00000345075TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000267115ENST00000392668TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000267115ENST00000525404TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000267115ENST00000526145TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000267115ENST00000531611TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000267115ENST00000535549TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000423828ENST00000319397TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000423828ENST00000345075TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000423828ENST00000392668TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000423828ENST00000525404TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000423828ENST00000526145TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000423828ENST00000531611TMBIM6chr12

50158716

+ETS1chr11

128386450

+
5CDS-intronENST00000423828ENST00000535549TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000395006ENST00000319397TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000395006ENST00000345075TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000395006ENST00000392668TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000395006ENST00000525404TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000395006ENST00000526145TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000395006ENST00000531611TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000395006ENST00000535549TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000547798ENST00000319397TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000547798ENST00000345075TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000547798ENST00000392668TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000547798ENST00000525404TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000547798ENST00000526145TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000547798ENST00000531611TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000547798ENST00000535549TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000548589ENST00000319397TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000548589ENST00000345075TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000548589ENST00000392668TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000548589ENST00000525404TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000548589ENST00000526145TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000548589ENST00000531611TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000548589ENST00000535549TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000549385ENST00000319397TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000549385ENST00000345075TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000549385ENST00000392668TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000549385ENST00000525404TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000549385ENST00000526145TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000549385ENST00000531611TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000549385ENST00000535549TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000552699ENST00000319397TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000552699ENST00000345075TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000552699ENST00000392668TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000552699ENST00000525404TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000552699ENST00000526145TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000552699ENST00000531611TMBIM6chr12

50158716

+ETS1chr11

128386450

+
intron-intronENST00000552699ENST00000535549TMBIM6chr12

50158716

+ETS1chr11

128386450

+

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 TMBIM6-ETS1


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)

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.

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Fusion Protein Features for TMBIM6-ETS1


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/:50158716/:128386450)
- 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
.ETS1

P14921

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: Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion. {ECO:0000269|PubMed:10698492, ECO:0000269|PubMed:11909962, ECO:0000269|PubMed:15247905, ECO:0000269|PubMed:15592518}.

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 TMBIM6-ETS1


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 TMBIM6-ETS1


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 TMBIM6-ETS1


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 TMBIM6-ETS1


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