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Fusion gene ID: 13966 |
FusionGeneSummary for FRS2_PTPRQ |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FRS2_PTPRQ | Fusion gene ID: 13966 | Hgene | Tgene | Gene symbol | FRS2 | PTPRQ | Gene ID | 10818 | 374462 |
| Gene name | fibroblast growth factor receptor substrate 2 | protein tyrosine phosphatase, receptor type Q | |
| Synonyms | FRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1 | DFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q | |
| Cytomap | 12q15 | 12q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTsuc1-associated neurotrophic factor target 1 | phosphatidylinositol phosphatase PTPRQphosphotidylinositol phosphatase PTPRQprotein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q8WU20 | Q9UMZ3 | |
| Ensembl transtripts involved in fusion gene | ENST00000299293, ENST00000549921, ENST00000550389, ENST00000397997, | ENST00000266688, ENST00000547485, | |
| Fusion gene scores | * DoF score | 56 X 9 X 12=6048 | 8 X 6 X 4=192 |
| # samples | 47 | 6 | |
| ** MAII score | log2(47/6048*10)=-3.68572547765607 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/192*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FRS2 [Title/Abstract] AND PTPRQ [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 | PTPRQ | GO:0045598 | regulation of fat cell differentiation | 19351528 |
| 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-A3NK-01A | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| * 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 |
| 5UTR-3CDS | ENST00000299293 | ENST00000266688 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| 5UTR-intron | ENST00000299293 | ENST00000547485 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| 5UTR-3CDS | ENST00000549921 | ENST00000266688 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| 5UTR-intron | ENST00000549921 | ENST00000547485 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| 5UTR-3CDS | ENST00000550389 | ENST00000266688 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| 5UTR-intron | ENST00000550389 | ENST00000547485 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| intron-3CDS | ENST00000397997 | ENST00000266688 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
| intron-intron | ENST00000397997 | ENST00000547485 | FRS2 | chr12 | 69864310 | + | PTPRQ | chr12 | 81072381 | + |
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FusionProtFeatures for FRS2_PTPRQ |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FRS2 | PTPRQ |
| Adapter protein that links activated FGR and NGFreceptors to downstream signaling pathways. Plays an importantrole in the activation of MAP kinases and in the phosphorylationof PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1.Modulates signaling via SHC1 by competing for a common bindingsite on NTRK1. {ECO:0000269|PubMed:12974390,ECO:0000269|PubMed:21765395}. | Phosphatidylinositol phosphatase required for auditoryfunction. May act by regulating the level of phosphatidylinositol4,5-bisphosphate (PIP2) level in the basal region of hair bundles.Can dephosphorylate a broad range of phosphatidylinositolphosphates, including phosphatidylinositol 3,4,5-trisphosphate andmost phosphatidylinositol monophosphates and diphosphates.Phosphate can be hydrolyzed from the D3 and D5 positions in theinositol ring. Has low tyrosine-protein phosphatase activity;however, the relevance of such activity in vivo is unclear. Playsan important role in adipogenesis of mesenchymal stem cells(MSCs). Regulates the phosphorylation state of AKT1 by suppressingthe phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCsand preadipocyte cells. {ECO:0000269|PubMed:19351528}. |
| 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 FRS2_PTPRQ |
| 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 FRS2_PTPRQ |
| 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 |
| FRS2 | PTPN11, INSR, SOS1, GRB2, CBL, FGFR1, CRK, NTRK1, NTRK2, NTRK3, RET, PRKCI, FGFR2, FLOT1, SORBS1, SPRY2, LYN, BECN1, RPS6, TMEM17, GAB1, GAB2, CDH1, TRIM25 | PTPRQ | EEA1, PIBF1, SNX27, SLC9A3R1, AHI1, ATP2B2, SLC9A3R2, EZR |
| - 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 FRS2_PTPRQ |
| 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 FRS2_PTPRQ |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PTPRQ | C3150654 | DEAFNESS, AUTOSOMAL RECESSIVE 84A | 1 | CTD_human;UNIPROT |
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