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Fusion gene ID: 29715 |
FusionGeneSummary for PVT1_CFTR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PVT1_CFTR | Fusion gene ID: 29715 | Hgene | Tgene | Gene symbol | PVT1 | CFTR | Gene ID | 5820 | 1080 |
| Gene name | Pvt1 oncogene | cystic fibrosis transmembrane conductance regulator | |
| Synonyms | LINC00079|MIR1204HG|MYC|NCRNA00079|onco-lncRNA-100 | ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 | |
| Cytomap | 8q24.21 | 7q31.2 | |
| Type of gene | ncRNA | protein-coding | |
| Description | CXCR4/PVT1 fusionHIST1H2BD/PVT1 fusionMIR1204, MIR1205, MIR1206 and MIR1207 hostOncogene PVT-1 (MYC activator)PVT1/CASC8 fusionPVT1/CCDC26 fusionPVT1/IFRD1 fusionPVT1/IRF2BP2 fusionPVT1/LINC00824 fusionPVT1/MYC fusionPVT1/NFIL3 fusionPVT1/NSMCE | cystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f | |
| Modification date | 20180520 | 20180527 | |
| UniProtAcc | P13569 | ||
| Ensembl transtripts involved in fusion gene | ENST00000408388, | ENST00000003084, ENST00000454343, ENST00000608965, | |
| Fusion gene scores | * DoF score | 37 X 12 X 15=6660 | 9 X 7 X 8=504 |
| # samples | 39 | 8 | |
| ** MAII score | log2(39/6660*10)=-4.09397614820901 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/504*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PVT1 [Title/Abstract] AND CFTR [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 | CFTR | GO:0015701 | bicarbonate transport | 15010471|19019741 |
| Tgene | CFTR | GO:1902476 | chloride transmembrane transport | 11524016|11707463|19019741 |
| Tgene | CFTR | GO:1902943 | positive regulation of voltage-gated chloride channel activity | 22006324 |
| Tgene | CFTR | GO:1904322 | cellular response to forskolin | 15010471|19621064 |
| 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 | UCEC | TCGA-AJ-A6NU-01A | PVT1 | chr8 | 128806980 | + | CFTR | chr7 | 117199518 | + |
| * 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 | ENST00000408388 | ENST00000003084 | PVT1 | chr8 | 128806980 | + | CFTR | chr7 | 117199518 | + |
| intron-3CDS | ENST00000408388 | ENST00000454343 | PVT1 | chr8 | 128806980 | + | CFTR | chr7 | 117199518 | + |
| intron-intron | ENST00000408388 | ENST00000608965 | PVT1 | chr8 | 128806980 | + | CFTR | chr7 | 117199518 | + |
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FusionProtFeatures for PVT1_CFTR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PVT1 | CFTR |