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Fusion gene ID: 27815 |
FusionGeneSummary for PMVK_FNBP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PMVK_FNBP1 | Fusion gene ID: 27815 | Hgene | Tgene | Gene symbol | PMVK | FNBP1 | Gene ID | 10654 | 23048 |
| Gene name | phosphomevalonate kinase | formin binding protein 1 | |
| Synonyms | HUMPMKI|PMK|PMKA|PMKASE|POROK1 | FBP17 | |
| Cytomap | 1q21.3 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphomevalonate kinasetestis tissue sperm-binding protein Li 95mP | formin-binding protein 1formin-binding protein 17 | |
| Modification date | 20180523 | 20180529 | |
| UniProtAcc | Q15126 | Q96RU3 | |
| Ensembl transtripts involved in fusion gene | ENST00000368467, | ENST00000446176, ENST00000420781, ENST00000355681, ENST00000443566, ENST00000478129, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 8 X 10 X 3=240 |
| # samples | 5 | 14 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/240*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PMVK [Title/Abstract] AND FNBP1 [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 | PMVK | GO:0006695 | cholesterol biosynthetic process | 8663599 |
| Hgene | PMVK | GO:0016126 | sterol biosynthetic process | 16519518 |
| 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 | LIHC | TCGA-CC-5263-01A | PMVK | chr1 | 154909067 | - | FNBP1 | chr9 | 132691974 | - |
| * 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 | ENST00000368467 | ENST00000446176 | PMVK | chr1 | 154909067 | - | FNBP1 | chr9 | 132691974 | - |
| In-frame | ENST00000368467 | ENST00000420781 | PMVK | chr1 | 154909067 | - | FNBP1 | chr9 | 132691974 | - |
| In-frame | ENST00000368467 | ENST00000355681 | PMVK | chr1 | 154909067 | - | FNBP1 | chr9 | 132691974 | - |
| 5CDS-intron | ENST00000368467 | ENST00000443566 | PMVK | chr1 | 154909067 | - | FNBP1 | chr9 | 132691974 | - |
| 5CDS-intron | ENST00000368467 | ENST00000478129 | PMVK | chr1 | 154909067 | - | FNBP1 | chr9 | 132691974 | - |
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FusionProtFeatures for PMVK_FNBP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PMVK | FNBP1 |