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Fusion gene ID: 7960 |
FusionGeneSummary for COL4A2_ELK3 |
 Fusion gene summary |
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| 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 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 |
| 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. |
| 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 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL4A2 | ELK3 |