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Fusion gene ID: 29432 |
FusionGeneSummary for PTPN1_ERF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTPN1_ERF | Fusion gene ID: 29432 | Hgene | Tgene | Gene symbol | PTPN1 | ERF | Gene ID | 5770 | 2107 |
| Gene name | protein tyrosine phosphatase, non-receptor type 1 | eukaryotic translation termination factor 1 | |
| Synonyms | PTP1B | D5S1995|ERF|ERF1|RF1|SUP45L1|TB3-1 | |
| Cytomap | 20q13.13 | 5q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein phosphatase non-receptor type 1protein tyrosine phosphatase, placentalprotein-tyrosine phosphatase 1B | eukaryotic peptide chain release factor subunit 1polypeptide chain release factor 1protein Cl1sup45 (yeast omnipotent suppressor 45) homolog-like 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P18031 | P50548 | |
| Ensembl transtripts involved in fusion gene | ENST00000371621, ENST00000541713, | ENST00000222329, ENST00000440177, ENST00000595941, | |
| Fusion gene scores | * DoF score | 7 X 4 X 5=140 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/140*10)=-0.807354922057604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PTPN1 [Title/Abstract] AND ERF [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 |
| Tgene | ERF | GO:0006479 | protein methylation | 18539146 |
| 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 | BU682148 | PTPN1 | chr20 | 49201006 | - | ERF | chr19 | 42752229 | + |
| * 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 |
| 3UTR-3UTR | ENST00000371621 | ENST00000222329 | PTPN1 | chr20 | 49201006 | - | ERF | chr19 | 42752229 | + |
| 3UTR-intron | ENST00000371621 | ENST00000440177 | PTPN1 | chr20 | 49201006 | - | ERF | chr19 | 42752229 | + |
| 3UTR-intron | ENST00000371621 | ENST00000595941 | PTPN1 | chr20 | 49201006 | - | ERF | chr19 | 42752229 | + |
| intron-3UTR | ENST00000541713 | ENST00000222329 | PTPN1 | chr20 | 49201006 | - | ERF | chr19 | 42752229 | + |
| intron-intron | ENST00000541713 | ENST00000440177 | PTPN1 | chr20 | 49201006 | - | ERF | chr19 | 42752229 | + |
| intron-intron | ENST00000541713 | ENST00000595941 | PTPN1 | chr20 | 49201006 | - | ERF | chr19 | 42752229 | + |
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FusionProtFeatures for PTPN1_ERF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTPN1 | ERF |
| 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}. | Potent transcriptional repressor that binds to the H1element of the Ets2 promoter. May regulate other genes involved incellular proliferation. Required for extraembryonic ectodermdifferentiation, ectoplacental cone cavity closure, andchorioallantoic attachment (By similarity). May be important forregulating trophoblast stem cell differentiation (By similarity).{ECO:0000250}. |
| 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_ERF |
| 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_ERF |
| 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 PTPN1_ERF |
| 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_ERF |
| 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 | ERF | C0003803 | Arnold Chiari Malformation | 1 | CTD_human;HPO |
| Tgene | ERF | C0010278 | Craniosynostosis | 1 | CTD_human;HPO |
| Tgene | ERF | C0023014 | Language Development Disorders | 1 | CTD_human |
| Tgene | ERF | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | ERF | C3806917 | CRANIOSYNOSTOSIS 4 | 1 | ORPHANET;UNIPROT |
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