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Fusion gene ID: 34650 |
FusionGeneSummary for SLC9B1_PTPRQ |
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Fusion gene information | Fusion gene name: SLC9B1_PTPRQ | Fusion gene ID: 34650 | Hgene | Tgene | Gene symbol | SLC9B1 | PTPRQ | Gene ID | 150159 | 374462 |
Gene name | solute carrier family 9 member B1 | protein tyrosine phosphatase, receptor type Q | |
Synonyms | NHA1|NHEDC1 | DFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q | |
Cytomap | 4q24 | 12q21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | sodium/hydrogen exchanger 9B1NHE domain-containing protein 1Na(+)/H(+) exchanger-like domain-containing protein 1sodium/hydrogen exchanger-like domain-containing protein 1solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member | phosphatidylinositol phosphatase PTPRQphosphotidylinositol phosphatase PTPRQprotein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q4ZJI4 | Q9UMZ3 | |
Ensembl transtripts involved in fusion gene | ENST00000394789, ENST00000296422, ENST00000512651, | ENST00000266688, ENST00000547485, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 6 X 4=192 |
# samples | 1 | 6 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/192*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SLC9B1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | PTPRQ | GO:0045598 | regulation of fat cell differentiation | 19351528 |
![]() (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 | EG327603 | SLC9B1 | chr4 | 103814571 | + | PTPRQ | chr12 | 81067001 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3CDS | ENST00000394789 | ENST00000266688 | SLC9B1 | chr4 | 103814571 | + | PTPRQ | chr12 | 81067001 | + |
intron-intron | ENST00000394789 | ENST00000547485 | SLC9B1 | chr4 | 103814571 | + | PTPRQ | chr12 | 81067001 | + |
intron-3CDS | ENST00000296422 | ENST00000266688 | SLC9B1 | chr4 | 103814571 | + | PTPRQ | chr12 | 81067001 | + |
intron-intron | ENST00000296422 | ENST00000547485 | SLC9B1 | chr4 | 103814571 | + | PTPRQ | chr12 | 81067001 | + |
intron-3CDS | ENST00000512651 | ENST00000266688 | SLC9B1 | chr4 | 103814571 | + | PTPRQ | chr12 | 81067001 | + |
intron-intron | ENST00000512651 | ENST00000547485 | SLC9B1 | chr4 | 103814571 | + | PTPRQ | chr12 | 81067001 | + |
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FusionProtFeatures for SLC9B1_PTPRQ |
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Hgene | Tgene |
SLC9B1 | PTPRQ |
Sperm-specific Na(+)/H(+) exchanger involved inintracellular pH regulation of spermatozoa. Involved in spermmotility and fertility. {ECO:0000250|UniProtKB:Q8C0X2}. | 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}. |
![]() * 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 SLC9B1_PTPRQ |
![]() (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 SLC9B1_PTPRQ |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SLC9B1_PTPRQ |
![]() (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 SLC9B1_PTPRQ |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PTPRQ | C3150654 | DEAFNESS, AUTOSOMAL RECESSIVE 84A | 1 | CTD_human;UNIPROT |