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Fusion gene ID: 29726 |
FusionGeneSummary for PVT1_MERTK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PVT1_MERTK | Fusion gene ID: 29726 | Hgene | Tgene | Gene symbol | PVT1 | MERTK | Gene ID | 5820 | 10461 |
| Gene name | Pvt1 oncogene | MER proto-oncogene, tyrosine kinase | |
| Synonyms | LINC00079|MIR1204HG|MYC|NCRNA00079|onco-lncRNA-100 | MER|RP38|Tyro12|c-Eyk|c-mer | |
| Cytomap | 8q24.21 | 2q13 | |
| 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 | tyrosine-protein kinase MerMER receptor tyrosine kinaseSTK kinasec-mer proto-oncogene tyrosine kinaseproto-oncogene c-Merreceptor tyrosine kinase MerTK | |
| Modification date | 20180520 | 20180523 | |
| UniProtAcc | Q12866 | ||
| Ensembl transtripts involved in fusion gene | ENST00000408388, | ENST00000295408, ENST00000421804, ENST00000409780, | |
| Fusion gene scores | * DoF score | 37 X 12 X 15=6660 | 5 X 7 X 10=350 |
| # samples | 39 | 13 | |
| ** MAII score | log2(39/6660*10)=-4.09397614820901 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/350*10)=-1.42884329880387 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PVT1 [Title/Abstract] AND MERTK [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 | MERTK | GO:0050766 | positive regulation of phagocytosis | 18395422 |
| 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 | ACC | TCGA-OR-A5J7-01A | PVT1 | chr8 | 128806980 | + | MERTK | chr2 | 112722768 | + |
| * 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 | ENST00000295408 | PVT1 | chr8 | 128806980 | + | MERTK | chr2 | 112722768 | + |
| intron-3CDS | ENST00000408388 | ENST00000421804 | PVT1 | chr8 | 128806980 | + | MERTK | chr2 | 112722768 | + |
| intron-3CDS | ENST00000408388 | ENST00000409780 | PVT1 | chr8 | 128806980 | + | MERTK | chr2 | 112722768 | + |
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FusionProtFeatures for PVT1_MERTK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PVT1 | MERTK |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Receptor tyrosine kinase that transduces signals fromthe extracellular matrix into the cytoplasm by binding to severalligands including LGALS3, TUB, TULP1 or GAS6. Regulates manyphysiological processes including cell survival, migration,differentiation, and phagocytosis of apoptotic cells(efferocytosis). Ligand binding at the cell surface inducesautophosphorylation of MERTK on its intracellular domain thatprovides docking sites for downstream signaling molecules.Following activation by ligand, interacts with GRB2 or PLCG2 andinduces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTKsignaling plays a role in various processes such as macrophageclearance of apoptotic cells, platelet aggregation, cytoskeletonreorganization and engulfment. Functions in the retinal pigmentepithelium (RPE) as a regulator of rod outer segments fragmentsphagocytosis. Plays also an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response byactivating STAT1, which selectively induces production ofsuppressors of cytokine signaling SOCS1 and SOCS3.{ECO:0000269|PubMed:17005688}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PVT1_MERTK |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PVT1_MERTK |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| PVT1 | TRIM25 | MERTK | GAS6, IKBKG, NEDD4L, ITGB5, MERTK, TNK2, HSP90AA1, SKI |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PVT1_MERTK |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PVT1_MERTK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PVT1 | C0019829 | Hodgkin Disease | 1 | CTD_human |
| Hgene | PVT1 | C0162538 | Immunoglobulin A deficiency (disorder) | 1 | CTD_human |
| Tgene | MERTK | C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| Tgene | MERTK | C0034065 | Pulmonary Embolism | 1 | CTD_human |
| Tgene | MERTK | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;HPO;ORPHANET |
| Tgene | MERTK | C0040038 | Thromboembolism | 1 | CTD_human |
| Tgene | MERTK | C0040053 | Thrombosis | 1 | CTD_human |
| Tgene | MERTK | C3151228 | RETINITIS PIGMENTOSA 38 (disorder) | 1 | UNIPROT |
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