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Fusion gene ID: 38452 |
FusionGeneSummary for TMEM158_RYR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM158_RYR1 | Fusion gene ID: 38452 | Hgene | Tgene | Gene symbol | TMEM158 | RYR1 | Gene ID | 25907 | 6261 |
| Gene name | transmembrane protein 158 (gene/pseudogene) | ryanodine receptor 1 | |
| Synonyms | BBP|RIS1|p40BBP | CCO|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR | |
| Cytomap | 3p21.31 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 15840 kDa BINP-binding proteinBINP receptorRas induced senescence 1brain injury-derived neurotrophic peptide (BINP) binding proteinbrain specific binding protein | ryanodine receptor 1central core disease of muscleprotein phosphatase 1, regulatory subunit 137ryanodine receptor 1 (skeletal)sarcoplasmic reticulum calcium release channelskeletal muscle calcium release channelskeletal muscle ryanodine receptortyp | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8WZ71 | P21817 | |
| Ensembl transtripts involved in fusion gene | ENST00000503771, | ENST00000355481, ENST00000360985, ENST00000359596, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 8 X 6 X 5=240 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/240*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TMEM158 [Title/Abstract] AND RYR1 [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 |
| Tgene | RYR1 | GO:0001666 | response to hypoxia | 19120137 |
| 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 |
| ChiTaRS3.1 | BE764194 | TMEM158 | chr3 | 45266302 | + | RYR1 | chr19 | 38997142 | - |
| * 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 |
| intron-3CDS | ENST00000503771 | ENST00000355481 | TMEM158 | chr3 | 45266302 | + | RYR1 | chr19 | 38997142 | - |
| intron-3CDS | ENST00000503771 | ENST00000360985 | TMEM158 | chr3 | 45266302 | + | RYR1 | chr19 | 38997142 | - |
| intron-3CDS | ENST00000503771 | ENST00000359596 | TMEM158 | chr3 | 45266302 | + | RYR1 | chr19 | 38997142 | - |
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FusionProtFeatures for TMEM158_RYR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM158 | RYR1 |