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Fusion gene ID: 29301 |
FusionGeneSummary for PTEN_PYGB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTEN_PYGB | Fusion gene ID: 29301 | Hgene | Tgene | Gene symbol | PTEN | PYGB | Gene ID | 5728 | 5834 |
| Gene name | phosphatase and tensin homolog | glycogen phosphorylase B | |
| Synonyms | 10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1 | GPBB | |
| Cytomap | 10q23.31 | 20p11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENMMAC1 phosphatase and tensin homolog deleted on chromosome 10mitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutated in multip | glycogen phosphorylase, brain formphosphorylase, glycogen; brain | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P60484 | P11216 | |
| Ensembl transtripts involved in fusion gene | ENST00000371953, ENST00000472832, | ENST00000216962, ENST00000471359, | |
| Fusion gene scores | * DoF score | 16 X 8 X 9=1152 | 4 X 4 X 2=32 |
| # samples | 15 | 4 | |
| ** MAII score | log2(15/1152*10)=-2.94110631094643 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PTEN [Title/Abstract] AND PYGB [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | PTEN | GO:0001933 | negative regulation of protein phosphorylation | 20123964 |
| Hgene | PTEN | GO:0006470 | protein dephosphorylation | 9256433 |
| Hgene | PTEN | GO:0008285 | negative regulation of cell proliferation | 19057511 |
| Hgene | PTEN | GO:0031658 | negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 21241890 |
| Hgene | PTEN | GO:0046855 | inositol phosphate dephosphorylation | 9593664 |
| Hgene | PTEN | GO:0046856 | phosphatidylinositol dephosphorylation | 9593664|9811831 |
| Hgene | PTEN | GO:0050821 | protein stabilization | 20123964 |
| Hgene | PTEN | GO:0060070 | canonical Wnt signaling pathway | 20123964 |
| Hgene | PTEN | GO:1904668 | positive regulation of ubiquitin protein ligase activity | 21241890 |
| Hgene | PTEN | GO:2000060 | positive regulation of ubiquitin-dependent protein catabolic process | 21241890 |
| Hgene | PTEN | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 21241890 |
| 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 | LGG | TCGA-FG-A87N-01A | PTEN | chr10 | 89693008 | + | PYGB | chr20 | 25249765 | + |
| * 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 | ENST00000371953 | ENST00000216962 | PTEN | chr10 | 89693008 | + | PYGB | chr20 | 25249765 | + |
| 5CDS-intron | ENST00000371953 | ENST00000471359 | PTEN | chr10 | 89693008 | + | PYGB | chr20 | 25249765 | + |
| intron-3CDS | ENST00000472832 | ENST00000216962 | PTEN | chr10 | 89693008 | + | PYGB | chr20 | 25249765 | + |
| intron-intron | ENST00000472832 | ENST00000471359 | PTEN | chr10 | 89693008 | + | PYGB | chr20 | 25249765 | + |
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FusionProtFeatures for PTEN_PYGB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTEN | PYGB |