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Fusion gene ID: 26463 |
FusionGeneSummary for PDGFRA_SCFD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDGFRA_SCFD2 | Fusion gene ID: 26463 | Hgene | Tgene | Gene symbol | PDGFRA | SCFD2 | Gene ID | 5156 | 152579 |
| Gene name | platelet derived growth factor receptor alpha | sec1 family domain containing 2 | |
| Synonyms | CD140A|PDGFR-2|PDGFR2 | STXBP1L1 | |
| Cytomap | 4q12 | 4q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | platelet-derived growth factor receptor alphaCD140 antigen-like family member ACD140a antigenPDGF-R-alphaalpha-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 2platelet-derived growth factor receptor, alpha polype | sec1 family domain-containing protein 2syntaxin binding protein 1-like 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P16234 | Q8WU76 | |
| Ensembl transtripts involved in fusion gene | ENST00000257290, ENST00000508170, | ENST00000401642, ENST00000388940, | |
| Fusion gene scores | * DoF score | 8 X 7 X 5=280 | 10 X 8 X 10=800 |
| # samples | 10 | 11 | |
| ** MAII score | log2(10/280*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/800*10)=-2.86249647625006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDGFRA [Title/Abstract] AND SCFD2 [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 | PDGFRA | GO:0008284 | positive regulation of cell proliferation | 10806482 |
| Hgene | PDGFRA | GO:0010544 | negative regulation of platelet activation | 8188664 |
| Hgene | PDGFRA | GO:0018108 | peptidyl-tyrosine phosphorylation | 1646396|2536956|8188664 |
| Hgene | PDGFRA | GO:0030335 | positive regulation of cell migration | 17470632 |
| Hgene | PDGFRA | GO:0034614 | cellular response to reactive oxygen species | 24190966 |
| Hgene | PDGFRA | GO:0038091 | positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | 17470632 |
| Hgene | PDGFRA | GO:0046777 | protein autophosphorylation | 1646396|2536956|8188664 |
| Hgene | PDGFRA | GO:0048008 | platelet-derived growth factor receptor signaling pathway | 2536956|10806482 |
| Hgene | PDGFRA | GO:0048146 | positive regulation of fibroblast proliferation | 10806482 |
| 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 | GBM | TCGA-06-0156-01A | PDGFRA | chr4 | 55095582 | + | SCFD2 | chr4 | 54140168 | - |
| * 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 |
| 5UTR-3CDS | ENST00000257290 | ENST00000401642 | PDGFRA | chr4 | 55095582 | + | SCFD2 | chr4 | 54140168 | - |
| 5UTR-3CDS | ENST00000257290 | ENST00000388940 | PDGFRA | chr4 | 55095582 | + | SCFD2 | chr4 | 54140168 | - |
| 5UTR-3CDS | ENST00000508170 | ENST00000401642 | PDGFRA | chr4 | 55095582 | + | SCFD2 | chr4 | 54140168 | - |
| 5UTR-3CDS | ENST00000508170 | ENST00000388940 | PDGFRA | chr4 | 55095582 | + | SCFD2 | chr4 | 54140168 | - |
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FusionProtFeatures for PDGFRA_SCFD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDGFRA | SCFD2 |