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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: 29592

FusionGeneSummary for PTPRS_PDHB

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPRS_PDHB
Fusion gene ID: 29592
HgeneTgene
Gene symbol

PTPRS

PDHB

Gene ID

5802

5162

Gene nameprotein tyrosine phosphatase, receptor type Spyruvate dehydrogenase E1 beta subunit
SynonymsPTPSIGMA|R-PTP-S|R-PTP-sigmaPDHBD|PDHE1-B|PDHE1B|PHE1B
Cytomap

19p13.3

3p14.3

Type of geneprotein-codingprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase Sprotein tyrosine phosphatase PTPsigmareceptor-type tyrosine-protein phosphatase sigmapyruvate dehydrogenase E1 component subunit beta, mitochondrialpyruvate dehydrogenase (lipoamide) betapyruvate dehydrogenase, E1 beta polypeptide
Modification date2018051920180522
UniProtAcc

Q13332

P11177

Ensembl transtripts involved in fusion geneENST00000588552, ENST00000262963, 
ENST00000372412, ENST00000348075, 
ENST00000357368, ENST00000353284, 
ENST00000587303, ENST00000588012, 
ENST00000592099, ENST00000590509, 
ENST00000302746, ENST00000485460, 
ENST00000474765, 
Fusion gene scores* DoF score9 X 7 X 7=4411 X 1 X 1=1
# samples 91
** MAII scorelog2(9/441*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: PTPRS [Title/Abstract] AND PDHB [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
HgenePTPRS

GO:0006470

protein dephosphorylation

8524829

TgenePDHB

GO:0006086

acetyl-CoA biosynthetic process from pyruvate

19081061

TgenePDHB

GO:0006099

tricarboxylic acid cycle

19081061


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
ChiTaRS3.1BF930759PTPRSchr19

5206041

+PDHBchr3

58418162

-
* 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-intronENST00000588552ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000588552ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000588552ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000262963ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000262963ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000262963ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000372412ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000372412ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000372412ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000348075ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000348075ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000348075ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000357368ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000357368ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000357368ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000353284ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000353284ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000353284ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000587303ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000587303ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000587303ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000588012ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000588012ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000588012ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000592099ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000592099ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000592099ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000590509ENST00000302746PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000590509ENST00000485460PTPRSchr19

5206041

+PDHBchr3

58418162

-
intron-intronENST00000590509ENST00000474765PTPRSchr19

5206041

+PDHBchr3

58418162

-

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FusionProtFeatures for PTPRS_PDHB


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

Q13332

PDHB

P11177

Cell surface receptor that binds to glycosaminoglycans,including chondroitin sulfate proteoglycans and heparan sulfateproteoglycan (PubMed:21454754). Binding to chondroitin sulfate andheparan sulfate proteoglycans has opposite effects on PTPRSoligomerization and regulation of neurite outgrowth. Contributesto the inhibition of neurite and axonal outgrowth by chondroitinsulfate proteoglycans, also after nerve transection. Plays a rolein stimulating neurite outgrowth in response to the heparansulfate proteoglycan GPC2. Required for normal brain development,especially for normal development of the pituitary gland and theolfactory bulb. Functions as tyrosine phosphatase(PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 andNTRK3 (By similarity). Plays a role in down-regulation ofsignaling cascades that lead to the activation of Akt and MAPkinases (By similarity). Down-regulates TLR9-mediated activationof NF-kappa-B, as well as production of TNF, interferon alpha andinterferon beta (PubMed:26231120). {ECO:0000250|UniProtKB:B0V2N1,ECO:0000250|UniProtKB:F1NWE3, ECO:0000269|PubMed:21454754,ECO:0000269|PubMed:26231120, ECO:0000269|PubMed:8524829}. The pyruvate dehydrogenase complex catalyzes the overallconversion of pyruvate to acetyl-CoA and CO(2), and thereby linksthe glycolytic pathway to the tricarboxylic cycle.{ECO:0000269|PubMed:17474719, ECO:0000269|PubMed:19081061}.

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 PTPRS_PDHB


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 PTPRS_PDHB


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 PTPRS_PDHB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePTPRSQ13332DB00630Alendronic acidReceptor-type tyrosine-protein phosphatase Ssmall moleculeapproved
HgenePTPRSQ13332DB01077Etidronic acidReceptor-type tyrosine-protein phosphatase Ssmall moleculeapproved

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RelatedDiseases for PTPRS_PDHB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDHBC0007134Renal Cell Carcinoma1CTD_human
TgenePDHBC0034345Pyruvate Dehydrogenase Complex Deficiency Disease1CTD_human
TgenePDHBC3279841Pyruvate Dehydrogenase E1-Beta Deficiency1ORPHANET;UNIPROT