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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:ETV1-ETV1 (FusionGDB2 ID:27682)

Fusion Gene Summary for ETV1-ETV1

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV1-ETV1
Fusion gene ID: 27682
HgeneTgene
Gene symbol

ETV1

ETV1

Gene ID

2115

2115

Gene nameETS variant transcription factor 1ETS variant transcription factor 1
SynonymsER81ER81
Cytomap

7p21.2

7p21.2

Type of geneprotein-codingprotein-coding
DescriptionETS translocation variant 1ETS variant 1ets variant gene 1ets-related protein 81ETS translocation variant 1ETS variant 1ets variant gene 1ets-related protein 81
Modification date2020031320200313
UniProtAcc

P50549

P50549

Ensembl transtripts involved in fusion geneENST00000242066, ENST00000343495, 
ENST00000399357, ENST00000403527, 
ENST00000403685, ENST00000405192, 
ENST00000405218, ENST00000405358, 
ENST00000420159, ENST00000430479, 
ENST00000476720, 		ENST00000242066, 
ENST00000343495, ENST00000399357, 
ENST00000405192, ENST00000405358, 
ENST00000420159, ENST00000430479, 
ENST00000403527, ENST00000403685, 
ENST00000405218, ENST00000476720, 
Fusion gene scores* DoF score3 X 3 X 2=1813 X 27 X 6=2106
# samples 330
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(30/2106*10)=-2.81147103052984
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV1 [Title/Abstract] AND ETV1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointETV1(13933740)-ETV1(13933638), # 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
HgeneETV1

GO:0045944

positive regulation of transcription by RNA polymerase II

12750007

TgeneETV1

GO:0045944

positive regulation of transcription by RNA polymerase II

12750007


check buttonFusion gene breakpoints across ETV1 (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 ETV1 (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/ABE896313ETV1chr7

13933740

+ETV1chr7

13933638

-


Top

Fusion Gene ORF analysis for ETV1-ETV1

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-3UTRENST00000242066ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000242066ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000242066ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000242066ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000242066ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000242066ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000242066ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000343495ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000343495ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000343495ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000343495ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000343495ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000343495ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000343495ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000399357ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000399357ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000399357ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000399357ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000399357ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000399357ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000399357ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403527ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403527ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403527ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403527ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403527ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403527ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403527ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403685ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403685ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403685ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403685ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403685ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403685ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000403685ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405192ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405192ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405192ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405192ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405192ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405192ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405192ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405218ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405218ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405218ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405218ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405218ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405218ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405218ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405358ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405358ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405358ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405358ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405358ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405358ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000405358ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000420159ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000420159ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000420159ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000420159ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000420159ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000420159ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000420159ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000430479ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000430479ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000430479ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000430479ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000430479ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000430479ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000430479ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000476720ENST00000242066ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000476720ENST00000343495ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000476720ENST00000399357ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000476720ENST00000405192ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000476720ENST00000405358ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000476720ENST00000420159ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-3UTRENST00000476720ENST00000430479ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000242066ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000242066ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000242066ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000242066ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000343495ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000343495ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000343495ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000343495ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000399357ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000399357ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000399357ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000399357ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403527ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403527ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403527ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403527ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403685ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403685ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403685ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000403685ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405192ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405192ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405192ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405192ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405218ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405218ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405218ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405218ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405358ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405358ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405358ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000405358ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000420159ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000420159ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000420159ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000420159ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000430479ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000430479ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000430479ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000430479ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000476720ENST00000403527ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000476720ENST00000403685ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000476720ENST00000405218ETV1chr7

13933740

+ETV1chr7

13933638

-
intron-intronENST00000476720ENST00000476720ETV1chr7

13933740

+ETV1chr7

13933638

-

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 ETV1-ETV1


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 ETV1-ETV1


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/:13933740/:13933638)
- 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
ETV1

P50549

ETV1

P50549

FUNCTION: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3' (PubMed:7651741). Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH) (By similarity). {ECO:0000250|UniProtKB:P41164, ECO:0000269|PubMed:7651741}.FUNCTION: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3' (PubMed:7651741). Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH) (By similarity). {ECO:0000250|UniProtKB:P41164, ECO:0000269|PubMed:7651741}.

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 ETV1-ETV1


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 ETV1-ETV1


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 ETV1-ETV1


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 ETV1-ETV1


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