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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: 7960

FusionGeneSummary for COL4A2_ELK3

check button Fusion gene summary
Fusion gene informationFusion gene name: COL4A2_ELK3
Fusion gene ID: 7960
HgeneTgene
Gene symbol

COL4A2

ELK3

Gene ID

1284

2004

Gene namecollagen type IV alpha 2 chainELK3, ETS transcription factor
SynonymsICH|POREN2ERP|NET|SAP-2|SAP2
Cytomap

13q34

12q23.1

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-2(IV) chaincanstatinETS domain-containing protein Elk-3ELK3, ETS-domain protein (SRF accessory protein 2)ETS-related protein ERPETS-related protein NETSRF accessory protein 2serum response factor accessory protein 2
Modification date2018052320180523
UniProtAcc

P08572

P41970

Ensembl transtripts involved in fusion geneENST00000360467, ENST00000462309, 
ENST00000228741, ENST00000552142, 
ENST00000549529, 
Fusion gene scores* DoF score8 X 5 X 7=28019 X 4 X 9=684
# samples 918
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/684*10)=-1.92599941855622
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL4A2 [Title/Abstract] AND ELK3 [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
HgeneCOL4A2

GO:0016525

negative regulation of angiogenesis

10625665

TgeneELK3

GO:0045892

negative regulation of transcription, DNA-templated

12933792

TgeneELK3

GO:0045944

positive regulation of transcription by RNA polymerase II

12788937


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
TCGARVBLCATCGA-FD-A3SL-01ACOL4A2chr13

111165374

+ELK3chr12

96588323

+
* 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
5CDS-5UTRENST00000360467ENST00000228741COL4A2chr13

111165374

+ELK3chr12

96588323

+
5CDS-5UTRENST00000360467ENST00000552142COL4A2chr13

111165374

+ELK3chr12

96588323

+
5CDS-intronENST00000360467ENST00000549529COL4A2chr13

111165374

+ELK3chr12

96588323

+
intron-5UTRENST00000462309ENST00000228741COL4A2chr13

111165374

+ELK3chr12

96588323

+
intron-5UTRENST00000462309ENST00000552142COL4A2chr13

111165374

+ELK3chr12

96588323

+
intron-intronENST00000462309ENST00000549529COL4A2chr13

111165374

+ELK3chr12

96588323

+

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FusionProtFeatures for COL4A2_ELK3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL4A2

P08572

ELK3

P41970

Type IV collagen is the major structural component ofglomerular basement membranes (GBM), forming a 'chicken-wire'meshwork together with laminins, proteoglycans andentactin/nidogen. Canstatin, a cleavage product corresponding to thecollagen alpha 2(IV) NC1 domain, possesses both anti-angiogenicand anti-tumor cell activity. It inhibits proliferation andmigration of endothelial cells, reduces mitochondrial membranepotential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity.Ligand for alphavbeta3 and alphavbeta5 integrins. May be a negative regulator of transcription, but canactivate transcription when coexpressed with Ras, Src or Mos.Forms a ternary complex with the serum response factor and the ETSand SRF motifs of the Fos serum response element.

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 COL4A2_ELK3


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 COL4A2_ELK3


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
COL4A2COL4A2, COL4A1, CSNK2B, DAZAP2, TK1, SMN1, ANXA7, VHL, SKIL, FAM46A, FBXO6, C1QB, C1QTNF2, CELA2B, FGL1, ITLN2, COL9A1, C1QTNF9, STBD1, SERPINA6, TMEM25, SEMG1, PTPRK, COL8A2, CLPSL1, TNPO3, PLOD1, COLGALT2, MMP9, MMP2, FKBP9, LYG2, COL10A1, COLQ, CRP, MSR1, IFNA21ELK3TCF3, TOP1, APP


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 COL4A2_ELK3


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 COL4A2_ELK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL4A2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL4A2C0027726Nephrotic Syndrome1CTD_human
HgeneCOL4A2C0149925Small cell carcinoma of lung1CTD_human
HgeneCOL4A2C3280970PORENCEPHALY 21UNIPROT
TgeneELK3C1458155Mammary Neoplasms1CTD_human