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Fusion gene ID: 29437 |
FusionGeneSummary for PTPN1_SLC9A8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTPN1_SLC9A8 | Fusion gene ID: 29437 | Hgene | Tgene | Gene symbol | PTPN1 | SLC9A8 | Gene ID | 5770 | 23315 |
| Gene name | protein tyrosine phosphatase, non-receptor type 1 | solute carrier family 9 member A8 | |
| Synonyms | PTP1B | NHE-8|NHE8 | |
| Cytomap | 20q13.13 | 20q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein phosphatase non-receptor type 1protein tyrosine phosphatase, placentalprotein-tyrosine phosphatase 1B | sodium/hydrogen exchanger 8Na(+)/H(+) exchanger 8solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9 (sodium/hydrogen exchanger), member 8solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P18031 | Q9Y2E8 | |
| Ensembl transtripts involved in fusion gene | ENST00000371621, ENST00000541713, | ENST00000417961, ENST00000361573, ENST00000541138, ENST00000539601, ENST00000490250, | |
| Fusion gene scores | * DoF score | 7 X 4 X 5=140 | 6 X 6 X 4=144 |
| # samples | 8 | 8 | |
| ** MAII score | log2(8/140*10)=-0.807354922057604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PTPN1 [Title/Abstract] AND SLC9A8 [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 | PTPN1 | GO:0030100 | regulation of endocytosis | 21135139 |
| Hgene | PTPN1 | GO:0030968 | endoplasmic reticulum unfolded protein response | 22169477 |
| Hgene | PTPN1 | GO:0035335 | peptidyl-tyrosine dephosphorylation | 21135139 |
| Hgene | PTPN1 | GO:0061098 | positive regulation of protein tyrosine kinase activity | 21216966 |
| Hgene | PTPN1 | GO:1903898 | negative regulation of PERK-mediated unfolded protein response | 21216966 |
| 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 | LD | BRCA | TCGA-C8-A1HN-01A | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| * 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 |
| 5CDS-intron | ENST00000371621 | ENST00000417961 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5CDS-intron | ENST00000371621 | ENST00000361573 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5CDS-5UTR | ENST00000371621 | ENST00000541138 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5CDS-intron | ENST00000371621 | ENST00000539601 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5CDS-intron | ENST00000371621 | ENST00000490250 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5UTR-intron | ENST00000541713 | ENST00000417961 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5UTR-intron | ENST00000541713 | ENST00000361573 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5UTR-5UTR | ENST00000541713 | ENST00000541138 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5UTR-intron | ENST00000541713 | ENST00000539601 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
| 5UTR-intron | ENST00000541713 | ENST00000490250 | PTPN1 | chr20 | 49127127 | + | SLC9A8 | chr20 | 48481265 | + |
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FusionProtFeatures for PTPN1_SLC9A8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTPN1 | SLC9A8 |
| Tyrosine-protein phosphatase which acts as a regulatorof endoplasmic reticulum unfolded protein response. Mediatesdephosphorylation of EIF2AK3/PERK; inactivating the protein kinaseactivity of EIF2AK3/PERK. May play an important role in CKII- andp60c-src-induced signal transduction cascades. May regulate theEFNA5-EPHA3 signaling pathway which modulates cell reorganizationand cell-cell repulsion. May also regulate the hepatocyte growthfactor receptor signaling pathway through dephosphorylation ofMET. {ECO:0000269|PubMed:18819921, ECO:0000269|PubMed:21135139,ECO:0000269|PubMed:22169477}. | Involved in pH regulation to eliminate acids generatedby active metabolism or to counter adverse environmentalconditions. Major proton extruding system driven by the inwardsodium ion chemical gradient. Plays an important role in signaltransduction. {ECO:0000269|PubMed:15522866}. |
| 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 PTPN1_SLC9A8 |
| 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 PTPN1_SLC9A8 |
| 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 |
| PTPN1 | GSK3B, GRB2, IRS1, CAV1, EGFR, CRK, BCAR1, CTNNB1, STAT5A, STAT5B, NTRK1, NTRK2, NTRK3, LTK, TYK2, JAK2, INSR, IGF1R, GHR, STAM2, ILF3, SLC25A3, MCAT, MARCKSL1, LAMTOR3, HNRNPU, ZMPSTE24, STAT3, ATF2, CSNK2A1, SRC, ATP4A, ASS1, RFWD2, IL1B, ASGR2, HMOX2, SLC39A4, LYPD3, ENPP6, ZACN, PLTP, LYPD6, KRAS, AGR3, BCAS3, CASC3, CASZ1, CCL5, CDH13, DIRAS3, FAM84B, KLK7, MRC2, RHOBTB2, SNAI1, THRSP, VPS45, HERC2, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, ATP6V1B2, ATP6V0A1, COL5A1, STOM, FLOT2, GALNT2, MSN, PHB, ABCD3, SMARCD2, ATP6V0D1, GOSR1, MVP, FLOT1, PHB2, LTN1, GOLIM4, BCOR, WRAP53, MREG, PCNP, KIDINS220, RNF213, ARHGAP39, PTRF, CDH1, ACTB, APLP2, CASC4, SNRPD2, TOMM70A, CTDNEP1, C5AR2, TMEM63A, C3AR1, GPR21, GHITM, SLCO6A1, TMPRSS3, AMTN, MRAP2, GPR114, KIAA1467, SLC39A12, APLNR, DUSP1, DCUN1D5, PISD, COX11, NDUFAF4, NARS, PTRH2, TBC1D15, NPPC, PFN2, ARL1, DHCR24, AIP, RAB5C, PGRMC1, SEC61A1, CDIPT, SLC27A4, ILVBL, DHCR7, TRIP13, ARF4, HEATR3, PCMT1, ARF1, CCDC47, CDK4, FLAD1, RMDN3, CLK2, LAT | SLC9A8 | ALB, KRAS |
| - 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 PTPN1_SLC9A8 |
| 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 |
| Hgene | PTPN1 | P18031 | DB01133 | Tiludronic acid | Tyrosine-protein phosphatase non-receptor type 1 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for PTPN1_SLC9A8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PTPN1 | C0019829 | Hodgkin Disease | 1 | CTD_human |
| Hgene | PTPN1 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Hgene | PTPN1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | PTPN1 | C0025063 | Mediastinal Neoplasms | 1 | CTD_human |
| Hgene | PTPN1 | C0028754 | Obesity | 1 | CTD_human |
| Hgene | PTPN1 | C0035372 | Rett Syndrome | 1 | CTD_human |
| Hgene | PTPN1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | PTPN1 | C0079731 | B-Cell Lymphomas | 1 | CTD_human |
| Tgene | SLC9A8 | C0497327 | Dementia | 1 | CTD_human |
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