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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 |
| 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}. | Modulates signaling by tyrosine phosphorylated cellsurface receptors such as KIT and the EGF receptor/EGFR. The SH2regions may interact with other cellular components to modulateits own phosphatase activity against interacting substrates.Together with MTUS1, induces UBE2V2 expression upon angiotensin IIstimulation. Plays a key role in hematopoiesis.{ECO:0000269|PubMed:11266449}. |
| 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 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000318974 | + | 0 | 16 | 110_213 | 2 | 574 | Domain | SH2 2 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000318974 | + | 0 | 16 | 244_515 | 2 | 574 | Domain | Tyrosine-protein phosphatase |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000318974 | + | 0 | 16 | 4_100 | 2 | 574 | Domain | SH2 1 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000399448 | + | 0 | 16 | 110_213 | 4 | 607 | Domain | SH2 2 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000399448 | + | 0 | 16 | 244_515 | 4 | 607 | Domain | Tyrosine-protein phosphatase |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000399448 | + | 0 | 16 | 4_100 | 4 | 607 | Domain | SH2 1 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000447931 | + | 0 | 15 | 110_213 | -39 | 566 | Domain | SH2 2 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000447931 | + | 0 | 15 | 244_515 | -39 | 566 | Domain | Tyrosine-protein phosphatase |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000447931 | + | 0 | 15 | 4_100 | -39 | 566 | Domain | SH2 1 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000456013 | + | 0 | 16 | 110_213 | 2 | 605 | Domain | SH2 2 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000456013 | + | 0 | 16 | 244_515 | 2 | 605 | Domain | Tyrosine-protein phosphatase |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000456013 | + | 0 | 16 | 4_100 | 2 | 605 | Domain | SH2 1 |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000318974 | + | 0 | 16 | 453_459 | 2 | 574 | Region | Substrate binding |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000399448 | + | 0 | 16 | 453_459 | 4 | 607 | Region | Substrate binding |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000447931 | + | 0 | 15 | 453_459 | -39 | 566 | Region | Substrate binding |
| Tgene | >PTPN6 | chr12:4430469 | chr12:7060772 | ENST00000456013 | + | 0 | 16 | 453_459 | 2 | 605 | Region | Substrate binding |
| - 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 C12orf5_PTPN6 |
| 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. |
| >In-frame_C12orf5_ENST00000179259_chr12_4430469_+_PTPN6_ENST00000399448_chr12_7060772_+_604aa MARFALTVVRQWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYGGEKFATLTELVEYYTQQ QGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCE GGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQEVKNLHQR LEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDFWQMAWQENSRVIVMTTR EVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDHGVPSEPGGVLSFLDQINQRQES LPHAGPIIVHCSAGIGRTGTIIVIDMLMENISTKGLDCDIDIQKTIQMVRAQRSGMVQTEAQYKFIYVAIAQFIETTKKKLEVLQSQKGQ |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_C12orf5_ENST00000179259_chr12_4430469_+_PTPN6_ENST00000399448_chr12_7060772_+_1812nt ATGGCTCGCTTCGCTCTGACTGTTGTCCGGCAGTGGTTTCACCGAGACCTCAGTGGGCTGGATGCAGAGACCCTGCTCAAGGGCCGAGGT GTCCACGGTAGCTTCCTGGCTCGGCCCAGTCGCAAGAACCAGGGTGACTTCTCGCTCTCCGTCAGGGTGGGGGATCAGGTGACCCATATT CGGATCCAGAACTCAGGGGATTTCTATGACCTGTATGGAGGGGAGAAGTTTGCGACTCTGACAGAGCTGGTGGAGTACTACACTCAGCAG CAGGGTGTCCTGCAGGACCGCGACGGCACCATCATCCACCTCAAGTACCCGCTGAACTGCTCCGATCCCACTAGTGAGAGGTGGTACCAT GGCCACATGTCTGGCGGGCAGGCAGAGACGCTGCTGCAGGCCAAGGGCGAGCCCTGGACGTTTCTTGTGCGTGAGAGCCTCAGCCAGCCT GGAGACTTCGTGCTTTCTGTGCTCAGTGACCAGCCCAAGGCTGGCCCAGGCTCCCCGCTCAGGGTCACCCACATCAAGGTCATGTGCGAG GGTGGACGCTACACAGTGGGTGGTTTGGAGACCTTCGACAGCCTCACGGACCTGGTGGAGCATTTCAAGAAGACGGGGATTGAGGAGGCC TCAGGCGCCTTTGTCTACCTGCGGCAGCCGTACTATGCCACGAGGGTGAATGCGGCTGACATTGAGAACCGAGTGTTGGAACTGAACAAG AAGCAGGAGTCCGAGGATACAGCCAAGGCTGGCTTCTGGGAGGAGTTTGAGAGTTTGCAGAAGCAGGAGGTGAAGAACTTGCACCAGCGT CTGGAAGGGCAGCGGCCAGAGAACAAGGGCAAGAACCGCTACAAGAACATTCTCCCCTTTGACCACAGCCGAGTGATCCTGCAGGGACGG GACAGTAACATCCCCGGGTCCGACTACATCAATGCCAACTACATCAAGAACCAGCTGCTAGGCCCTGATGAGAACGCTAAGACCTACATC GCCAGCCAGGGTTGTCTGGAGGCCACGGTCAATGACTTCTGGCAGATGGCGTGGCAGGAGAACAGCCGTGTCATCGTCATGACCACCCGA GAGGTGGAGAAAGGCCGGAACAAATGCGTCCCATACTGGCCCGAGGTGGGCATGCAGCGTGCTTATGGGCCCTACTCTGTGACCAACTGC GGGGAGCATGACACAACCGAATACAAACTCCGTACCTTACAGGTCTCCCCGCTGGACAATGGAGACCTGATTCGGGAGATCTGGCATTAC CAGTACCTGAGCTGGCCCGACCATGGGGTCCCCAGTGAGCCTGGGGGTGTCCTCAGCTTCCTGGACCAGATCAACCAGCGGCAGGAAAGT CTGCCTCACGCAGGGCCCATCATCGTGCACTGCAGCGCCGGCATCGGCCGCACAGGCACCATCATTGTCATCGACATGCTCATGGAGAAC ATCTCCACCAAGGGCCTGGACTGTGACATTGACATCCAGAAGACCATCCAGATGGTGCGGGCGCAGCGCTCGGGCATGGTGCAGACGGAG GCGCAGTACAAGTTCATCTACGTGGCCATCGCCCAGTTCATTGAAACCACTAAGAAGAAGCTGGAGGTCCTGCAGTCGCAGAAGGGCCAG GAGTCGGAGTACGGGAACATCACCTATCCCCCAGCCATGAAGAATGCCCATGCCAAGGCCTCCCGCACCTCGTCCAAACACAAGGAGGAT GTGTATGAGAACCTGCACACTAAGAACAAGAGGGAGGAGAAAGTGAAGAAGCAGCGGTCAGCAGACAAGGAGAAGAGCAAGGGTTCCCTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_C12orf5_ENST00000179259_chr12_4430469_+_PTPN6_ENST00000399448_chr12_7060772_+_2095nt GGGGAGGTAGCCCGCAGTGCAGGGGCAGCGCGGCGCGGGGCCACCGACGGGACGCGGCTCCGGGAACATGGCTCGCTTCGCTCTGACTGT TGTCCGGCAGTGGTTTCACCGAGACCTCAGTGGGCTGGATGCAGAGACCCTGCTCAAGGGCCGAGGTGTCCACGGTAGCTTCCTGGCTCG GCCCAGTCGCAAGAACCAGGGTGACTTCTCGCTCTCCGTCAGGGTGGGGGATCAGGTGACCCATATTCGGATCCAGAACTCAGGGGATTT CTATGACCTGTATGGAGGGGAGAAGTTTGCGACTCTGACAGAGCTGGTGGAGTACTACACTCAGCAGCAGGGTGTCCTGCAGGACCGCGA CGGCACCATCATCCACCTCAAGTACCCGCTGAACTGCTCCGATCCCACTAGTGAGAGGTGGTACCATGGCCACATGTCTGGCGGGCAGGC AGAGACGCTGCTGCAGGCCAAGGGCGAGCCCTGGACGTTTCTTGTGCGTGAGAGCCTCAGCCAGCCTGGAGACTTCGTGCTTTCTGTGCT CAGTGACCAGCCCAAGGCTGGCCCAGGCTCCCCGCTCAGGGTCACCCACATCAAGGTCATGTGCGAGGGTGGACGCTACACAGTGGGTGG TTTGGAGACCTTCGACAGCCTCACGGACCTGGTGGAGCATTTCAAGAAGACGGGGATTGAGGAGGCCTCAGGCGCCTTTGTCTACCTGCG GCAGCCGTACTATGCCACGAGGGTGAATGCGGCTGACATTGAGAACCGAGTGTTGGAACTGAACAAGAAGCAGGAGTCCGAGGATACAGC CAAGGCTGGCTTCTGGGAGGAGTTTGAGAGTTTGCAGAAGCAGGAGGTGAAGAACTTGCACCAGCGTCTGGAAGGGCAGCGGCCAGAGAA CAAGGGCAAGAACCGCTACAAGAACATTCTCCCCTTTGACCACAGCCGAGTGATCCTGCAGGGACGGGACAGTAACATCCCCGGGTCCGA CTACATCAATGCCAACTACATCAAGAACCAGCTGCTAGGCCCTGATGAGAACGCTAAGACCTACATCGCCAGCCAGGGTTGTCTGGAGGC CACGGTCAATGACTTCTGGCAGATGGCGTGGCAGGAGAACAGCCGTGTCATCGTCATGACCACCCGAGAGGTGGAGAAAGGCCGGAACAA ATGCGTCCCATACTGGCCCGAGGTGGGCATGCAGCGTGCTTATGGGCCCTACTCTGTGACCAACTGCGGGGAGCATGACACAACCGAATA CAAACTCCGTACCTTACAGGTCTCCCCGCTGGACAATGGAGACCTGATTCGGGAGATCTGGCATTACCAGTACCTGAGCTGGCCCGACCA TGGGGTCCCCAGTGAGCCTGGGGGTGTCCTCAGCTTCCTGGACCAGATCAACCAGCGGCAGGAAAGTCTGCCTCACGCAGGGCCCATCAT CGTGCACTGCAGCGCCGGCATCGGCCGCACAGGCACCATCATTGTCATCGACATGCTCATGGAGAACATCTCCACCAAGGGCCTGGACTG TGACATTGACATCCAGAAGACCATCCAGATGGTGCGGGCGCAGCGCTCGGGCATGGTGCAGACGGAGGCGCAGTACAAGTTCATCTACGT GGCCATCGCCCAGTTCATTGAAACCACTAAGAAGAAGCTGGAGGTCCTGCAGTCGCAGAAGGGCCAGGAGTCGGAGTACGGGAACATCAC CTATCCCCCAGCCATGAAGAATGCCCATGCCAAGGCCTCCCGCACCTCGTCCAAACACAAGGAGGATGTGTATGAGAACCTGCACACTAA GAACAAGAGGGAGGAGAAAGTGAAGAAGCAGCGGTCAGCAGACAAGGAGAAGAGCAAGGGTTCCCTCAAGAGGAAGTGAGCGGTGCTGTC CTCAGGTGGCCATGCCTCAGCCCTGACCCTGTGGAAGCATTTCGCGATGGACAGACTCACAACCTGAACCTAGGAGTGCCCCATTCTTTT GTAATTTAAATGGCTGCATCCCCCCCACCTCTCCCTGACCCTGTATATAGCCCAGCCAGGCCCCAGGCAGGGCCAACCCTTCTCCTCTTG |
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FusionGenePPI for C12orf5_PTPN6 |
| 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 |
| C12orf5 | APP, UBE2L3, TSC2, RPL11, PCBP1, TKT, OFD1, PNPLA4, TWF1 | PTPN6 | BCR, ABL1, CD72, CSF2RB, CD22, PTK2B, SYK, GRB2, LYN, CXCR4, ROS1, LCP2, LCK, CBL, INSR, IL4R, TREML1, JAK2, LAIR1, PIK3R1, EPOR, NOS1, GAB2, PAG1, CAV1, EGFR, CD33, C6orf25, HOXA10, TYK2, JAK1, CD5, SSTR2, PILRA, VAV1, SOS1, KIT, PECAM1, SLAMF6, SIGLEC11, SIRPA, ZAP70, CTNND1, PRKCD, BLNK, FCRL3, IL6ST, LIFR, STAT5B, LILRB1, LILRB2, TXN, SMAD3, SAMD4B, PANK4, FHL3, NSUN7, AIMP1, DARS, PTPN2, PFKP, TRIP6, VARS, OLIG1, PTK2, LAT, PLCG1, PLCG2, ERBB4, ERBB2, FGFR2, FGFR4, IGF1R, KDR, DUSP18, PTPN12, PTPN11, PTPN6, NUDT16, NMNAT1, MACROD1, RPL7L1, RPS19BP1, RPL37A, BRIX1, SRP14, RPL36AL, GADD45GIP1, RPL30, EBNA1BP2, H1FX-AS1, DIMT1, RPF2, RRS1, RPS10P5, C8orf33, RPL35A, SRSF5, CLTCL1, PA2G4, RPL18A, RPL22L1, RPP30, LMTK2, AATK, ERBB3, ROR1, ROR2, PTK7, SIGLEC7, SIGLEC9, SRC, CDK1 |
| - 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 C12orf5_PTPN6 |
| 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 C12orf5_PTPN6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PTPN6 | C0006663 | Calcinosis | 1 | CTD_human |
| Tgene | PTPN6 | C0018824 | Heart valve disease | 1 | CTD_human |
| Tgene | PTPN6 | C0035228 | Respiratory Hypersensitivity | 1 | CTD_human |
| Tgene | PTPN6 | C0036341 | Schizophrenia | 1 | PSYGENET |
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