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Fusion gene ID: 12190 |
FusionGeneSummary for ETV6_PRH2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ETV6_PRH2 | Fusion gene ID: 12190 | Hgene | Tgene | Gene symbol | ETV6 | PRH2 | Gene ID | 2120 | 5555 |
| Gene name | ETS variant 6 | proline rich protein HaeIII subfamily 2 | |
| Synonyms | TEL|TEL/ABL|THC5 | PRP-1/PRP-2|Pr|pr1/Pr2 | |
| Cytomap | 12p13.2 | 12p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | salivary acidic proline-rich phosphoprotein 1/2acidic salivary proline-rich protein, HaeIII type, 2parotid acidic proteinparotid double-band proteinparotid proline-rich protein 1/2protein C | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | P41212 | P02810 | |
| Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000381847, ENST00000396400, | |
| Fusion gene scores | * DoF score | 23 X 26 X 11=6578 | 2 X 1 X 2=4 |
| # samples | 47 | 2 | |
| ** MAII score | log2(47/6578*10)=-3.8069163462704 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ETV6 [Title/Abstract] AND PRH2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | ETV6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10514502 |
| 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 | LD | BLCA | TCGA-DK-A2I6-01A | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
| * 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 |
| In-frame | ENST00000396373 | ENST00000381847 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
| In-frame | ENST00000396373 | ENST00000396400 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
| 3UTR-3CDS | ENST00000544715 | ENST00000381847 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
| 3UTR-3CDS | ENST00000544715 | ENST00000396400 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
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FusionProtFeatures for ETV6_PRH2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ETV6 | PRH2 |