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Fusion gene ID: 30650 |
FusionGeneSummary for RBFA_XRCC5 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: RBFA_XRCC5 | Fusion gene ID: 30650 | Hgene | Tgene | Gene symbol | RBFA | XRCC5 | Gene ID | 79863 | 7520 |
| Gene name | ribosome binding factor A | X-ray repair cross complementing 5 | |
| Synonyms | C18orf22|HsT169 | KARP-1|KARP1|KU80|KUB2|Ku86|NFIV | |
| Cytomap | 18q23 | 2q35 | |
| Type of gene | protein-coding | protein-coding | |
| Description | putative ribosome-binding factor A, mitochondrialribosome binding factor A (putative) | X-ray repair cross-complementing protein 586 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 2ATP-dependent DNA helicase II 80 kDa subunitCTC box-binding factor 85 kDa subunitCTC85CTCBFDNA repair protein XRCC5Ku autoantigen, 80kDaKu | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8N0V3 | P13010 | |
| Ensembl transtripts involved in fusion gene | ENST00000306735, ENST00000586847, ENST00000262197, | ENST00000392133, ENST00000392132, ENST00000471649, | |
| Fusion gene scores | * DoF score | 4 X 5 X 5=100 | 6 X 5 X 3=90 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/100*10)=-0.514573172829758 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/90*10)=-0.362570079384708 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RBFA [Title/Abstract] AND XRCC5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | XRCC5 | GO:0002218 | activation of innate immune response | 28712728 |
| Tgene | XRCC5 | GO:0006303 | double-strand break repair via nonhomologous end joining | 26359349 |
| Tgene | XRCC5 | GO:0045860 | positive regulation of protein kinase activity | 22504299 |
| Tgene | XRCC5 | GO:0071480 | cellular response to gamma radiation | 26359349 |
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 | LGG | TCGA-FG-A711-01A | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| * 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 |
| Frame-shift | ENST00000306735 | ENST00000392133 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| Frame-shift | ENST00000306735 | ENST00000392132 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| 5CDS-intron | ENST00000306735 | ENST00000471649 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| intron-3CDS | ENST00000586847 | ENST00000392133 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| intron-3CDS | ENST00000586847 | ENST00000392132 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| intron-intron | ENST00000586847 | ENST00000471649 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| intron-3CDS | ENST00000262197 | ENST00000392133 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| intron-3CDS | ENST00000262197 | ENST00000392132 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
| intron-intron | ENST00000262197 | ENST00000471649 | RBFA | chr18 | 77802219 | + | XRCC5 | chr2 | 217054948 | + |
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FusionProtFeatures for RBFA_XRCC5 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBFA | XRCC5 |