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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:ECT2-ECT2 (FusionGDB2 ID:24916)

Fusion Gene Summary for ECT2-ECT2

check button Fusion gene summary
Fusion gene informationFusion gene name: ECT2-ECT2
Fusion gene ID: 24916
HgeneTgene
Gene symbol

ECT2

ECT2

Gene ID

1894

1894

Gene nameepithelial cell transforming 2epithelial cell transforming 2
SynonymsARHGEF31ARHGEF31
Cytomap

3q26.31

3q26.31

Type of geneprotein-codingprotein-coding
Descriptionprotein ECT2epithelial cell-transforming sequence 2 oncogeneprotein ECT2epithelial cell-transforming sequence 2 oncogene
Modification date2020032920200329
UniProtAcc.

Q008S8

Ensembl transtripts involved in fusion geneENST00000232458, ENST00000392692, 
ENST00000417960, ENST00000441497, 
ENST00000427830, ENST00000540509, 
ENST00000232458, ENST00000392692, 
ENST00000417960, ENST00000427830, 
ENST00000441497, ENST00000540509, 
Fusion gene scores* DoF score7 X 12 X 6=5047 X 8 X 3=168
# samples 129
** MAII scorelog2(12/504*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ECT2 [Title/Abstract] AND ECT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointECT2(172539264)-ECT2(172539100), # samples:1
ECT2(172504366)-ECT2(172479400), # samples:1
ECT2(172472298)-ECT2(172525675), # samples:1
Anticipated loss of major functional domain due to fusion event.ECT2-ECT2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ECT2-ECT2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneECT2

GO:0032147

activation of protein kinase activity

15254234

HgeneECT2

GO:0032467

positive regulation of cytokinesis

15545273

HgeneECT2

GO:0043065

positive regulation of apoptotic process

21373644

HgeneECT2

GO:0043547

positive regulation of GTPase activity

17115030|19617897|20047078

HgeneECT2

GO:0045859

regulation of protein kinase activity

15254234

HgeneECT2

GO:0051260

protein homooligomerization

15545273

HgeneECT2

GO:0070301

cellular response to hydrogen peroxide

21373644

HgeneECT2

GO:0071277

cellular response to calcium ion

15254234

HgeneECT2

GO:0071479

cellular response to ionizing radiation

21373644

HgeneECT2

GO:0090630

activation of GTPase activity

19617897

TgeneECT2

GO:0032147

activation of protein kinase activity

15254234

TgeneECT2

GO:0032467

positive regulation of cytokinesis

15545273

TgeneECT2

GO:0043065

positive regulation of apoptotic process

21373644

TgeneECT2

GO:0043547

positive regulation of GTPase activity

17115030|19617897|20047078

TgeneECT2

GO:0045859

regulation of protein kinase activity

15254234

TgeneECT2

GO:0051260

protein homooligomerization

15545273

TgeneECT2

GO:0070301

cellular response to hydrogen peroxide

21373644

TgeneECT2

GO:0071277

cellular response to calcium ion

15254234

TgeneECT2

GO:0071479

cellular response to ionizing radiation

21373644

TgeneECT2

GO:0090630

activation of GTPase activity

19617897


check buttonFusion gene breakpoints across ECT2 (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 ECT2 (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/AAX382108ECT2chr3

172539264

+ECT2chr3

172539100

-
ChiTaRS5.0N/ABE080860ECT2chr3

172504366

+ECT2chr3

172479400

+
ChiTaRS5.0N/ABQ028167ECT2chr3

172472298

-ECT2chr3

172525675

-


Top

Fusion Gene ORF analysis for ECT2-ECT2

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-3UTRENST00000232458ENST00000232458ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000232458ENST00000392692ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000232458ENST00000417960ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000392692ENST00000232458ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000392692ENST00000392692ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000392692ENST00000417960ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000417960ENST00000232458ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000417960ENST00000392692ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-3UTRENST00000417960ENST00000417960ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000232458ENST00000427830ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000232458ENST00000441497ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000232458ENST00000540509ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000392692ENST00000427830ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000392692ENST00000441497ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000392692ENST00000540509ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000417960ENST00000427830ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000417960ENST00000441497ECT2chr3

172539264

+ECT2chr3

172539100

-
5CDS-intronENST00000417960ENST00000540509ECT2chr3

172539264

+ECT2chr3

172539100

-
5UTR-3CDSENST00000441497ENST00000232458ECT2chr3

172472298

-ECT2chr3

172525675

-
5UTR-3CDSENST00000441497ENST00000392692ECT2chr3

172472298

-ECT2chr3

172525675

-
5UTR-3CDSENST00000441497ENST00000417960ECT2chr3

172472298

-ECT2chr3

172525675

-
5UTR-3CDSENST00000441497ENST00000427830ECT2chr3

172472298

-ECT2chr3

172525675

-
5UTR-3CDSENST00000441497ENST00000441497ECT2chr3

172472298

-ECT2chr3

172525675

-
5UTR-3CDSENST00000441497ENST00000540509ECT2chr3

172472298

-ECT2chr3

172525675

-
Frame-shiftENST00000232458ENST00000232458ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000232458ENST00000392692ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000232458ENST00000417960ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000232458ENST00000427830ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000232458ENST00000441497ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000232458ENST00000540509ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000392692ENST00000232458ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000392692ENST00000392692ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000392692ENST00000417960ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000392692ENST00000427830ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000392692ENST00000441497ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000392692ENST00000540509ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000417960ENST00000232458ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000417960ENST00000392692ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000417960ENST00000417960ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000417960ENST00000427830ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000417960ENST00000441497ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000417960ENST00000540509ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000427830ENST00000232458ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000427830ENST00000392692ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000427830ENST00000417960ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000427830ENST00000427830ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000427830ENST00000441497ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000427830ENST00000540509ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000441497ENST00000232458ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000441497ENST00000392692ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000441497ENST00000417960ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000441497ENST00000427830ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000441497ENST00000441497ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000441497ENST00000540509ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000540509ENST00000232458ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000540509ENST00000392692ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000540509ENST00000417960ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000540509ENST00000427830ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000540509ENST00000441497ECT2chr3

172504366

+ECT2chr3

172479400

+
Frame-shiftENST00000540509ENST00000540509ECT2chr3

172504366

+ECT2chr3

172479400

+
intron-3CDSENST00000232458ENST00000232458ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000232458ENST00000392692ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000232458ENST00000417960ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000232458ENST00000427830ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000232458ENST00000441497ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000232458ENST00000540509ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000392692ENST00000232458ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000392692ENST00000392692ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000392692ENST00000417960ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000392692ENST00000427830ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000392692ENST00000441497ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000392692ENST00000540509ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000417960ENST00000232458ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000417960ENST00000392692ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000417960ENST00000417960ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000417960ENST00000427830ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000417960ENST00000441497ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000417960ENST00000540509ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000427830ENST00000232458ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000427830ENST00000392692ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000427830ENST00000417960ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000427830ENST00000427830ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000427830ENST00000441497ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000427830ENST00000540509ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000540509ENST00000232458ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000540509ENST00000392692ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000540509ENST00000417960ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000540509ENST00000427830ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000540509ENST00000441497ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3CDSENST00000540509ENST00000540509ECT2chr3

172472298

-ECT2chr3

172525675

-
intron-3UTRENST00000427830ENST00000232458ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000427830ENST00000392692ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000427830ENST00000417960ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000441497ENST00000232458ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000441497ENST00000392692ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000441497ENST00000417960ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000540509ENST00000232458ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000540509ENST00000392692ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-3UTRENST00000540509ENST00000417960ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000427830ENST00000427830ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000427830ENST00000441497ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000427830ENST00000540509ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000441497ENST00000427830ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000441497ENST00000441497ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000441497ENST00000540509ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000540509ENST00000427830ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000540509ENST00000441497ECT2chr3

172539264

+ECT2chr3

172539100

-
intron-intronENST00000540509ENST00000540509ECT2chr3

172539264

+ECT2chr3

172539100

-

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 ECT2-ECT2


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)
ECT2chr3172504364+ECT2chr3172479399+1.56E-050.9999844
ECT2chr3172504364+ECT2chr3172479399+1.56E-050.9999844

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 ECT2-ECT2


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/:172539264/:172539100)
- 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
.ECT2

Q008S8

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: May act as a guanine nucleotide exchange factor (GEF). {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 ECT2-ECT2


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 ECT2-ECT2


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 ECT2-ECT2


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 ECT2-ECT2


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