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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 5013

FusionGeneSummary for C4orf3_ECT2

check button Fusion gene summary
Fusion gene informationFusion gene name: C4orf3_ECT2
Fusion gene ID: 5013
HgeneTgene
Gene symbol

C4orf3

ECT2

Gene ID

401152

1894

Gene namechromosome 4 open reading frame 3epithelial cell transforming 2
SynonymsALN|HCVFTP1ARHGEF31
Cytomap

4q26

3q26.31

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C4orf3HCV F-transactivated protein 1another-regulinhepatitis C virus F protein-transactivated protein 1protein ECT2epithelial cell-transforming sequence 2 oncogene
Modification date2018051920180522
UniProtAcc

Q8WVX3

Q9H8V3

Ensembl transtripts involved in fusion geneENST00000399075, ENST00000504110, 
ENST00000232458, ENST00000392692, 
ENST00000427830, ENST00000417960, 
ENST00000441497, ENST00000540509, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 5 X 2=50
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C4orf3 [Title/Abstract] AND ECT2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1DA445867C4orf3chr4

120221574

-ECT2chr3

172501628

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000399075ENST00000232458C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000399075ENST00000392692C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000399075ENST00000427830C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000399075ENST00000417960C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000399075ENST00000441497C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000399075ENST00000540509C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000504110ENST00000232458C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000504110ENST00000392692C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000504110ENST00000427830C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000504110ENST00000417960C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000504110ENST00000441497C4orf3chr4

120221574

-ECT2chr3

172501628

+
intron-3CDSENST00000504110ENST00000540509C4orf3chr4

120221574

-ECT2chr3

172501628

+

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FusionProtFeatures for C4orf3_ECT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C4orf3

Q8WVX3

ECT2

Q9H8V3

Guanine nucleotide exchange factor (GEF) that catalyzesthe exchange of GDP for GTP. Promotes guanine nucleotide exchangeon the Rho family members of small GTPases, like RHOA, RHOC, RAC1and CDC42. Required for signal transduction pathways involved inthe regulation of cytokinesis. Component of the centralspindlincomplex that serves as a microtubule-dependent and Rho-mediatedsignaling required for the myosin contractile ring formationduring the cell cycle cytokinesis. Regulates the translocation ofRHOA from the central spindle to the equatorial region. Plays arole in the control of mitotic spindle assembly; regulates theactivation of CDC42 in metaphase for the process of spindle fibersattachment to kinetochores before chromosome congression. Involvedin the regulation of epithelial cell polarity; participates in theformation of epithelial tight junctions in a polarity complexPARD3-PARD6-protein kinase PRKCQ-dependent manner. Plays a role inthe regulation of neurite outgrowth. Inhibits phenobarbital (PB)-induced NR1I3 nuclear translocation. Stimulates the activity ofRAC1 through its association with the oncogenic PARD6A-PRKCIcomplex in cancer cells, thereby acting to coordinately drivetumor cell proliferation and invasion. Also stimulates genotoxicstress-induced RHOB activity in breast cancer cells leading totheir cell death. {ECO:0000269|PubMed:10579713,ECO:0000269|PubMed:14645260, ECO:0000269|PubMed:15254234,ECO:0000269|PubMed:15545273, ECO:0000269|PubMed:15642749,ECO:0000269|PubMed:16103226, ECO:0000269|PubMed:16170345,ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:16495035,ECO:0000269|PubMed:19129481, ECO:0000269|PubMed:19468300,ECO:0000269|PubMed:19617897, ECO:0000269|PubMed:21189248,ECO:0000269|PubMed:21373644}.

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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FusionGeneSequence for C4orf3_ECT2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for C4orf3_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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RelatedDrugs for C4orf3_ECT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for C4orf3_ECT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneECT2C0023893Liver Cirrhosis, Experimental1CTD_human