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Fusion gene ID: 7960 |
FusionGeneSummary for COL4A2_ELK3 |
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Fusion gene information | Fusion gene name: COL4A2_ELK3 | Fusion gene ID: 7960 | Hgene | Tgene | Gene symbol | COL4A2 | ELK3 | Gene ID | 1284 | 2004 |
Gene name | collagen type IV alpha 2 chain | ELK3, ETS transcription factor | |
Synonyms | ICH|POREN2 | ERP|NET|SAP-2|SAP2 | |
Cytomap | 13q34 | 12q23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-2(IV) chaincanstatin | ETS 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 date | 20180523 | 20180523 | |
UniProtAcc | P08572 | P41970 | |
Ensembl transtripts involved in fusion gene | ENST00000360467, ENST00000462309, | ENST00000228741, ENST00000552142, ENST00000549529, | |
Fusion gene scores | * DoF score | 8 X 5 X 7=280 | 19 X 4 X 9=684 |
# samples | 9 | 18 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | COL4A2 | GO:0016525 | negative regulation of angiogenesis | 10625665 |
Tgene | ELK3 | GO:0045892 | negative regulation of transcription, DNA-templated | 12933792 |
Tgene | ELK3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12788937 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BLCA | TCGA-FD-A3SL-01A | COL4A2 | chr13 | 111165374 | + | ELK3 | chr12 | 96588323 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000360467 | ENST00000228741 | COL4A2 | chr13 | 111165374 | + | ELK3 | chr12 | 96588323 | + |
5CDS-5UTR | ENST00000360467 | ENST00000552142 | COL4A2 | chr13 | 111165374 | + | ELK3 | chr12 | 96588323 | + |
5CDS-intron | ENST00000360467 | ENST00000549529 | COL4A2 | chr13 | 111165374 | + | ELK3 | chr12 | 96588323 | + |
intron-5UTR | ENST00000462309 | ENST00000228741 | COL4A2 | chr13 | 111165374 | + | ELK3 | chr12 | 96588323 | + |
intron-5UTR | ENST00000462309 | ENST00000552142 | COL4A2 | chr13 | 111165374 | + | ELK3 | chr12 | 96588323 | + |
intron-intron | ENST00000462309 | ENST00000549529 | COL4A2 | chr13 | 111165374 | + | ELK3 | chr12 | 96588323 | + |
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FusionProtFeatures for COL4A2_ELK3 |
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Hgene | Tgene |
COL4A2 | ELK3 |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for COL4A2_ELK3 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
COL4A2 | COL4A2, 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, IFNA21 | ELK3 | TCF3, TOP1, APP |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for COL4A2_ELK3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for COL4A2_ELK3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL4A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL4A2 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL4A2 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
Hgene | COL4A2 | C3280970 | PORENCEPHALY 2 | 1 | UNIPROT |
Tgene | ELK3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |