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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 34650

FusionGeneSummary for SLC9B1_PTPRQ

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC9B1_PTPRQ
Fusion gene ID: 34650
HgeneTgene
Gene symbol

SLC9B1

PTPRQ

Gene ID

150159

374462

Gene namesolute carrier family 9 member B1protein tyrosine phosphatase, receptor type Q
SynonymsNHA1|NHEDC1DFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q
Cytomap

4q24

12q21.31

Type of geneprotein-codingprotein-coding
Descriptionsodium/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 date2018052320180519
UniProtAcc

Q4ZJI4

Q9UMZ3

Ensembl transtripts involved in fusion geneENST00000394789, ENST00000296422, 
ENST00000512651, 
ENST00000266688, 
ENST00000547485, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 6 X 4=192
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePTPRQ

GO:0045598

regulation of fat cell differentiation

19351528


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1EG327603SLC9B1chr4

103814571

+PTPRQchr12

81067001

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000394789ENST00000266688SLC9B1chr4

103814571

+PTPRQchr12

81067001

+
intron-intronENST00000394789ENST00000547485SLC9B1chr4

103814571

+PTPRQchr12

81067001

+
intron-3CDSENST00000296422ENST00000266688SLC9B1chr4

103814571

+PTPRQchr12

81067001

+
intron-intronENST00000296422ENST00000547485SLC9B1chr4

103814571

+PTPRQchr12

81067001

+
intron-3CDSENST00000512651ENST00000266688SLC9B1chr4

103814571

+PTPRQchr12

81067001

+
intron-intronENST00000512651ENST00000547485SLC9B1chr4

103814571

+PTPRQchr12

81067001

+

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FusionProtFeatures for SLC9B1_PTPRQ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC9B1

Q4ZJI4

PTPRQ

Q9UMZ3

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SLC9B1_PTPRQ


check button 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 SLC9B1_PTPRQ


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SLC9B1_PTPRQ


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SLC9B1_PTPRQ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTPRQC3150654DEAFNESS, AUTOSOMAL RECESSIVE 84A1CTD_human;UNIPROT