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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: 29590

FusionGeneSummary for PTPRS_ERLEC1

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPRS_ERLEC1
Fusion gene ID: 29590
HgeneTgene
Gene symbol

PTPRS

ERLEC1

Gene ID

5802

27248

Gene nameprotein tyrosine phosphatase, receptor type Sendoplasmic reticulum lectin 1
SynonymsPTPSIGMA|R-PTP-S|R-PTP-sigmaC2orf30|CIM|CL24936|CL25084|HEL117|XTP3-B|XTP3TPB
Cytomap

19p13.3

2p16.2

Type of geneprotein-codingprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase Sprotein tyrosine phosphatase PTPsigmareceptor-type tyrosine-protein phosphatase sigmaendoplasmic reticulum lectin 1ER lectinXTP3-transactivated gene B proteinXTP3-transactivated protein Bcancer invasion and metastasis-relatedepididymis luminal protein 117erlectin 1
Modification date2018051920180523
UniProtAcc

Q13332

Q96DZ1

Ensembl transtripts involved in fusion geneENST00000588552, ENST00000262963, 
ENST00000372412, ENST00000348075, 
ENST00000357368, ENST00000353284, 
ENST00000587303, ENST00000588012, 
ENST00000592099, ENST00000590509, 
ENST00000494373, ENST00000405123, 
ENST00000185150, ENST00000378239, 
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 ERLEC1 [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


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
TCGALDSARCTCGA-DX-A1KY-01APTPRSchr19

5293152

-ERLEC1chr2

54028534

+
* 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-intronENST00000588552ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000588552ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000588552ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000588552ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000262963ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000262963ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000262963ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000262963ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000372412ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000372412ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000372412ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000372412ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000348075ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000348075ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000348075ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000348075ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000357368ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000357368ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000357368ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000357368ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000353284ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000353284ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000353284ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000353284ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000587303ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000587303ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000587303ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000587303ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000588012ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000588012ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000588012ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000588012ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000592099ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000592099ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000592099ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000592099ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000590509ENST00000494373PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000590509ENST00000405123PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000590509ENST00000185150PTPRSchr19

5293152

-ERLEC1chr2

54028534

+
intron-intronENST00000590509ENST00000378239PTPRSchr19

5293152

-ERLEC1chr2

54028534

+

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FusionProtFeatures for PTPRS_ERLEC1


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

Q13332

ERLEC1

Q96DZ1

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}. Probable lectin that binds selectively to improperlyfolded lumenal proteins. May function in endoplasmic reticulumquality control and endoplasmic reticulum-associated degradation(ERAD) of both non-glycosylated proteins and glycoproteins.{ECO:0000269|PubMed:16531414, ECO:0000269|PubMed:18264092,ECO:0000269|PubMed:18502753}.

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_ERLEC1


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_ERLEC1


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
PTPRSEIF4A2, CHD3, FEZ1, PFN2, UTP14A, SETDB1, MOB4, KAT5, TUBB2A, UBR1, PTN, EEF1G, KIAA1377, UNC119, PPFIA1, PTPRD, PPFIA2, PPFIA3, RYK, FBXO6, HLA-DPA1, CEACAM21, TMEM231, TGFBR2, GINM1, MMP3, TNF, HEPACAM2, NTRK1, TRIO, PTPRF, CASKIN2, NTRK3, PCDH12, CLU, LRRIQ1, SLC39A5, PCDHGB1, FKBP9, TNFSF8, KLRG2, MRAP2, LIPG, FCGRT, CRP, C16orf58, MANSC1, IL13RA2, STX11, ARRDC3, TMEM30B, TRIM25ERLEC1SEL1L, SERPINA1, HSP90B1, HSPA5, SYVN1, ASGR2, OS9, TCIRG1, MRPL24, MRPL52, FBXL4, FBXO6, SLC27A3, UBE2G2, DERL2, UBE2J1, CPVL, FAM8A1, FOXRED2, MICA, ATF6, CNTNAP3, ATF6B, CLN5, EMILIN3, GDF11, PIGT, PRKCSH, STK11, TCTN1, PTPRO, EDEM3


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_ERLEC1


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_ERLEC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneERLEC1C0008370Cholestasis1CTD_human
TgeneERLEC1C4277682Chemical and Drug Induced Liver Injury1CTD_human