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Fusion gene ID: 29447 |
FusionGeneSummary for PTPN2_BOLA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTPN2_BOLA2 | Fusion gene ID: 29447 | Hgene | Tgene | Gene symbol | PTPN2 | BOLA2 | Gene ID | 5771 | 654483 |
| Gene name | protein tyrosine phosphatase, non-receptor type 2 | bolA family member 2B | |
| Synonyms | PTN2|PTPT|TC-PTP|TCELLPTP|TCPTP | BOLA2 | |
| Cytomap | 18p11.21 | 16p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein phosphatase non-receptor type 2T-cell protein tyrosine phosphatase | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P17706 | Q9H3K6 | |
| Ensembl transtripts involved in fusion gene | ENST00000327283, ENST00000591115, ENST00000353319, ENST00000309660, ENST00000589086, ENST00000591497, | ENST00000330978, | |
| Fusion gene scores | * DoF score | 7 X 5 X 5=175 | 19 X 26 X 1=494 |
| # samples | 7 | 28 | |
| ** MAII score | log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(28/494*10)=-0.819084214639711 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PTPN2 [Title/Abstract] AND BOLA2 [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 | BOLA2 | GO:0044571 | [2Fe-2S] cluster assembly | 27519415 |
| Tgene | BOLA2 | GO:0097428 | protein maturation by iron-sulfur cluster transfer | 27519415 |
| 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 |
| ChiTaRS3.1 | BU580997 | PTPN2 | chr18 | 12859223 | - | BOLA2 | chr16 | 30002608 | + |
| * 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 |
| intron-intron | ENST00000327283 | ENST00000330978 | PTPN2 | chr18 | 12859223 | - | BOLA2 | chr16 | 30002608 | + |
| intron-intron | ENST00000591115 | ENST00000330978 | PTPN2 | chr18 | 12859223 | - | BOLA2 | chr16 | 30002608 | + |
| intron-intron | ENST00000353319 | ENST00000330978 | PTPN2 | chr18 | 12859223 | - | BOLA2 | chr16 | 30002608 | + |
| intron-intron | ENST00000309660 | ENST00000330978 | PTPN2 | chr18 | 12859223 | - | BOLA2 | chr16 | 30002608 | + |
| intron-intron | ENST00000589086 | ENST00000330978 | PTPN2 | chr18 | 12859223 | - | BOLA2 | chr16 | 30002608 | + |
| intron-intron | ENST00000591497 | ENST00000330978 | PTPN2 | chr18 | 12859223 | - | BOLA2 | chr16 | 30002608 | + |
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FusionProtFeatures for PTPN2_BOLA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTPN2 | BOLA2 |
| Non-receptor type tyrosine-specific phosphatase thatdephosphorylates receptor protein tyrosine kinases including INSR,EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor proteintyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1,STAT3 and STAT6 either in the nucleus or the cytoplasm. Negativelyregulates numerous signaling pathways and biological processeslike hematopoiesis, inflammatory response, cell proliferation anddifferentiation, and glucose homeostasis. Plays a multifaceted andimportant role in the development of the immune system. Functionsin T-cell receptor signaling through dephosphorylation of FYN andLCK to control T-cells differentiation and activation.Dephosphorylates CSF1R, negatively regulating its downstreamsignaling and macrophage differentiation. Negatively regulatescytokine (IL2/interleukin-2 and interferon)-mediated signalingthrough dephosphorylation of the cytoplasmic kinases JAK1, JAK3and their substrate STAT1, that propagate signaling downstream ofthe cytokine receptors. Also regulates the IL6/interleukin-6 andIL4/interleukin-4 cytokine signaling through dephosphorylation ofSTAT3 and STAT6 respectively. In addition to the immune system, itis involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. Activated by the integrin ITGA1/ITGB1, itdephosphorylates EGFR and negatively regulates EGF signaling.Dephosphorylates PDGFRB and negatively regulates platelet-derivedgrowth factor receptor-beta signaling pathway and therefore cellproliferation. Negatively regulates tumor necrosis factor-mediatedsignaling downstream via MAPK through SRC dephosphorylation. Mayalso regulate the hepatocyte growth factor receptor signalingpathway through dephosphorylation of the hepatocyte growth factorreceptor MET. Plays also an important role in glucose homeostasis.For instance, negatively regulates the insulin receptor signalingpathway through the dephosphorylation of INSR and controlgluconeogenesis and liver glucose production through negativeregulation of the IL6 signaling pathways. May also bind DNA.{ECO:0000269|PubMed:10734133, ECO:0000269|PubMed:11909529,ECO:0000269|PubMed:12138178, ECO:0000269|PubMed:12612081,ECO:0000269|PubMed:14966296, ECO:0000269|PubMed:15592458,ECO:0000269|PubMed:18819921, ECO:0000269|PubMed:22080863,ECO:0000269|PubMed:9488479}. | Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}. |
| 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 |
| - 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 PTPN2_BOLA2 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PTPN2_BOLA2 |
| 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 |
| - 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 PTPN2_BOLA2 |
| 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 PTPN2_BOLA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PTPN2 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | PTPN2 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
| Hgene | PTPN2 | C0010346 | Crohn Disease | 1 | CTD_human |
| Hgene | PTPN2 | C0023492 | Leukemia, T-Cell | 1 | CTD_human |
| Hgene | PTPN2 | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
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