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Fusion gene ID: 25656 |
FusionGeneSummary for OXSR1_ATXN7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: OXSR1_ATXN7 | Fusion gene ID: 25656 | Hgene | Tgene | Gene symbol | OXSR1 | ATXN7 | Gene ID | 9943 | 6314 |
| Gene name | oxidative stress responsive 1 | ataxin 7 | |
| Synonyms | OSR1 | ADCAII|OPCA3|SCA7 | |
| Cytomap | 3p22.2 | 3p14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase OSR1oxidative stress-responsive 1 protein | ataxin-7spinocerebellar ataxia type 7 protein | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | O95747 | O15265 | |
| Ensembl transtripts involved in fusion gene | ENST00000446845, ENST00000311806, ENST00000492714, | ENST00000398590, ENST00000295900, ENST00000487717, ENST00000538065, ENST00000484332, ENST00000488239, | |
| Fusion gene scores | * DoF score | 10 X 9 X 6=540 | 5 X 5 X 2=50 |
| # samples | 10 | 5 | |
| ** MAII score | log2(10/540*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
| Context | PubMed: OXSR1 [Title/Abstract] AND ATXN7 [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 | OXSR1 | GO:0006468 | protein phosphorylation | 14707132 |
| Hgene | OXSR1 | GO:0018107 | peptidyl-threonine phosphorylation | 24393035 |
| Hgene | OXSR1 | GO:0035556 | intracellular signal transduction | 14707132 |
| Tgene | ATXN7 | GO:0016578 | histone deubiquitination | 18206972 |
| 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 | SKCM | TCGA-FS-A1ZZ-06A | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| * 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 | ENST00000446845 | ENST00000398590 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| In-frame | ENST00000446845 | ENST00000295900 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| In-frame | ENST00000446845 | ENST00000487717 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| In-frame | ENST00000446845 | ENST00000538065 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| 5CDS-intron | ENST00000446845 | ENST00000484332 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| 5CDS-intron | ENST00000446845 | ENST00000488239 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| In-frame | ENST00000311806 | ENST00000398590 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| In-frame | ENST00000311806 | ENST00000295900 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| In-frame | ENST00000311806 | ENST00000487717 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| In-frame | ENST00000311806 | ENST00000538065 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| 5CDS-intron | ENST00000311806 | ENST00000484332 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| 5CDS-intron | ENST00000311806 | ENST00000488239 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| intron-3CDS | ENST00000492714 | ENST00000398590 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| intron-3CDS | ENST00000492714 | ENST00000295900 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| intron-3CDS | ENST00000492714 | ENST00000487717 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| intron-3CDS | ENST00000492714 | ENST00000538065 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| intron-intron | ENST00000492714 | ENST00000484332 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
| intron-intron | ENST00000492714 | ENST00000488239 | OXSR1 | chr3 | 38232330 | + | ATXN7 | chr3 | 63938055 | + |
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FusionProtFeatures for OXSR1_ATXN7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| OXSR1 | ATXN7 |