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Fusion gene ID: 17711 |
FusionGeneSummary for IRAK2_VHL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IRAK2_VHL | Fusion gene ID: 17711 | Hgene | Tgene | Gene symbol | IRAK2 | VHL | Gene ID | 3656 | 7428 |
| Gene name | interleukin 1 receptor associated kinase 2 | von Hippel-Lindau tumor suppressor | |
| Synonyms | IRAK-2 | HRCA1|RCA1|VHL1|pVHL | |
| Cytomap | 3p25.3 | 3p25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interleukin-1 receptor-associated kinase-like 2 | von Hippel-Lindau disease tumor suppressorelongin binding proteinprotein G7von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43187 | P40337 | |
| Ensembl transtripts involved in fusion gene | ENST00000256458, | ENST00000256474, ENST00000345392, ENST00000477538, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 3 X 2 X 3=18 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: IRAK2 [Title/Abstract] AND VHL [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. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) 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 |
| Tgene | VHL | GO:0016567 | protein ubiquitination | 24899725 |
| Tgene | VHL | GO:0061428 | negative regulation of transcription from RNA polymerase II promoter in response to hypoxia | 11641274 |
| 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 | STAD | TCGA-VQ-A8PE-01A | IRAK2 | chr3 | 10219704 | + | VHL | chr3 | 10191471 | + |
| * 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 | ENST00000256458 | ENST00000256474 | IRAK2 | chr3 | 10219704 | + | VHL | chr3 | 10191471 | + |
| In-frame | ENST00000256458 | ENST00000345392 | IRAK2 | chr3 | 10219704 | + | VHL | chr3 | 10191471 | + |
| 5CDS-3UTR | ENST00000256458 | ENST00000477538 | IRAK2 | chr3 | 10219704 | + | VHL | chr3 | 10191471 | + |
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FusionProtFeatures for IRAK2_VHL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IRAK2 | VHL |