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Fusion gene ID: 28137 |
FusionGeneSummary for PPFIA1_LRP5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPFIA1_LRP5 | Fusion gene ID: 28137 | Hgene | Tgene | Gene symbol | PPFIA1 | LRP5 | Gene ID | 8500 | 4041 |
| Gene name | PTPRF interacting protein alpha 1 | LDL receptor related protein 5 | |
| Synonyms | LIP.1|LIP1|LIPRIN | BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2 | |
| Cytomap | 11q13.3 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | liprin-alpha-1LAR-interacting protein 1LIP-1Liprin-alpha1protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 | low-density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 5low density lipoprotein receptor-related protein 7 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q13136 | O75197 | |
| Ensembl transtripts involved in fusion gene | ENST00000253925, ENST00000389547, ENST00000530548, | ENST00000294304, ENST00000529481, | |
| Fusion gene scores | * DoF score | 36 X 13 X 14=6552 | 10 X 9 X 7=630 |
| # samples | 41 | 12 | |
| ** MAII score | log2(41/6552*10)=-3.99823954213556 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/630*10)=-2.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PPFIA1 [Title/Abstract] AND LRP5 [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 | LRP5 | GO:0008284 | positive regulation of cell proliferation | 9790987 |
| Tgene | LRP5 | GO:0016055 | Wnt signaling pathway | 17955262 |
| Tgene | LRP5 | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification | 11029007 |
| Tgene | LRP5 | GO:0045840 | positive regulation of mitotic nuclear division | 9790987 |
| Tgene | LRP5 | GO:0045893 | positive regulation of transcription, DNA-templated | 15035989|17955262 |
| Tgene | LRP5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12857724 |
| Tgene | LRP5 | GO:0060070 | canonical Wnt signaling pathway | 12121999|12857724|15035989 |
| 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 | RV | BRCA | TCGA-BH-A0C3-01A | PPFIA1 | chr11 | 70222706 | + | LRP5 | chr11 | 68178904 | + |
| * 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 |
| Frame-shift | ENST00000253925 | ENST00000294304 | PPFIA1 | chr11 | 70222706 | + | LRP5 | chr11 | 68178904 | + |
| 5CDS-intron | ENST00000253925 | ENST00000529481 | PPFIA1 | chr11 | 70222706 | + | LRP5 | chr11 | 68178904 | + |
| Frame-shift | ENST00000389547 | ENST00000294304 | PPFIA1 | chr11 | 70222706 | + | LRP5 | chr11 | 68178904 | + |
| 5CDS-intron | ENST00000389547 | ENST00000529481 | PPFIA1 | chr11 | 70222706 | + | LRP5 | chr11 | 68178904 | + |
| 3UTR-3CDS | ENST00000530548 | ENST00000294304 | PPFIA1 | chr11 | 70222706 | + | LRP5 | chr11 | 68178904 | + |
| 3UTR-intron | ENST00000530548 | ENST00000529481 | PPFIA1 | chr11 | 70222706 | + | LRP5 | chr11 | 68178904 | + |
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FusionProtFeatures for PPFIA1_LRP5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPFIA1 | LRP5 |