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Fusion gene ID: 4681 |
FusionGeneSummary for C12orf5_PTPN6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C12orf5_PTPN6 | Fusion gene ID: 4681 | Hgene | Tgene | Gene symbol | C12orf5 | PTPN6 | Gene ID | 57103 | 5777 |
| Gene name | TP53 induced glycolysis regulatory phosphatase | protein tyrosine phosphatase, non-receptor type 6 | |
| Synonyms | C12orf5|FR2BP | HCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1 | |
| Cytomap | 12p13.32 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fructose-2,6-bisphosphatase TIGARTP53-induced glycolysis and apoptosis regulatorfructose-2,6-bisphosphate 2-phosphataseprobable fructose-2,6-bisphosphatase TIGARtransactivated by NS3TP2 protein | tyrosine-protein phosphatase non-receptor type 6hematopoietic cell phosphatasehematopoietic cell protein-tyrosine phosphataseprotein-tyrosine phosphatase 1Cprotein-tyrosine phosphatase SHP-1 | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | P29350 | ||
| Ensembl transtripts involved in fusion gene | ENST00000179259, ENST00000537251, | ENST00000399448, ENST00000447931, ENST00000318974, ENST00000456013, ENST00000539029, | |
| Fusion gene scores | * DoF score | 5 X 2 X 3=30 | 4 X 4 X 3=48 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: C12orf5 [Title/Abstract] AND PTPN6 [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 | C12orf5 | GO:0006003 | fructose 2,6-bisphosphate metabolic process | 19015259 |
| Hgene | C12orf5 | GO:0006974 | cellular response to DNA damage stimulus | 25928429 |
| Hgene | C12orf5 | GO:0030388 | fructose 1,6-bisphosphate metabolic process | 19015259 |
| Hgene | C12orf5 | GO:0043069 | negative regulation of programmed cell death | 23185017 |
| Hgene | C12orf5 | GO:0071279 | cellular response to cobalt ion | 25928429 |
| Hgene | C12orf5 | GO:0071456 | cellular response to hypoxia | 23185017 |
| Hgene | C12orf5 | GO:1903301 | positive regulation of hexokinase activity | 23185017 |
| Tgene | PTPN6 | GO:0006470 | protein dephosphorylation | 11266449 |
| Tgene | PTPN6 | GO:0008283 | cell proliferation | 11266449 |
| Tgene | PTPN6 | GO:0018108 | peptidyl-tyrosine phosphorylation | 9285411|18802077 |
| Tgene | PTPN6 | GO:0030154 | cell differentiation | 11266449 |
| Tgene | PTPN6 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 11266449 |
| 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 | SARC | TCGA-FX-A3TO-01A | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| * 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 | ENST00000179259 | ENST00000399448 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| 5CDS-intron | ENST00000179259 | ENST00000447931 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| 5CDS-intron | ENST00000179259 | ENST00000318974 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| 5CDS-intron | ENST00000179259 | ENST00000456013 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| 5CDS-intron | ENST00000179259 | ENST00000539029 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| intron-3CDS | ENST00000537251 | ENST00000399448 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| intron-intron | ENST00000537251 | ENST00000447931 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| intron-intron | ENST00000537251 | ENST00000318974 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| intron-intron | ENST00000537251 | ENST00000456013 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
| intron-intron | ENST00000537251 | ENST00000539029 | C12orf5 | chr12 | 4430469 | + | PTPN6 | chr12 | 7060772 | + |
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FusionProtFeatures for C12orf5_PTPN6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C12orf5 | PTPN6 |