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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: 29433

FusionGeneSummary for PTPN1_P2RX4

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPN1_P2RX4
Fusion gene ID: 29433
HgeneTgene
Gene symbol

PTPN1

P2RX4

Gene ID

5770

5025

Gene nameprotein tyrosine phosphatase, non-receptor type 1purinergic receptor P2X 4
SynonymsPTP1BP2X4|P2X4R
Cytomap

20q13.13

12q24.31

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein phosphatase non-receptor type 1protein tyrosine phosphatase, placentalprotein-tyrosine phosphatase 1BP2X purinoceptor 4ATP receptorATP-gated cation channel proteinP2X receptor, subunit 4purinergic receptor P2X, ligand gated ion channel, 4purinergic receptor P2X4purinoceptor P2X4
Modification date2018052220180523
UniProtAcc

P18031

Q99571

Ensembl transtripts involved in fusion geneENST00000371621, ENST00000541713, 
ENST00000337233, ENST00000359949, 
ENST00000540930, ENST00000541532, 
ENST00000543171, 
Fusion gene scores* DoF score7 X 4 X 5=1402 X 2 X 2=8
# samples 82
** MAII scorelog2(8/140*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PTPN1 [Title/Abstract] AND P2RX4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgenePTPN1

GO:0030100

regulation of endocytosis

21135139

HgenePTPN1

GO:0030968

endoplasmic reticulum unfolded protein response

22169477

HgenePTPN1

GO:0035335

peptidyl-tyrosine dephosphorylation

21135139

HgenePTPN1

GO:0061098

positive regulation of protein tyrosine kinase activity

21216966

HgenePTPN1

GO:1903898

negative regulation of PERK-mediated unfolded protein response

21216966

TgeneP2RX4

GO:0007165

signal transduction

9016352

TgeneP2RX4

GO:0010524

positive regulation of calcium ion transport into cytosol

10969036

TgeneP2RX4

GO:0033198

response to ATP

9016352

TgeneP2RX4

GO:0034220

ion transmembrane transport

10515189

TgeneP2RX4

GO:0034405

response to fluid shear stress

10969036

TgeneP2RX4

GO:0050850

positive regulation of calcium-mediated signaling

10969036

TgeneP2RX4

GO:0051899

membrane depolarization

9016352

TgeneP2RX4

GO:0070588

calcium ion transmembrane transport

9016352

TgeneP2RX4

GO:0071318

cellular response to ATP

10515189

TgeneP2RX4

GO:0097190

apoptotic signaling pathway

17264311


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
TCGARVHNSCTCGA-CN-5364-01APTPN1chr20

49127127

+P2RX4chr12

121654937

+
* 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
Frame-shitENST00000371621ENST00000337233PTPN1chr20

49127127

+P2RX4chr12

121654937

+
Frame-shitENST00000371621ENST00000359949PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5CDS-3UTRENST00000371621ENST00000540930PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5CDS-3UTRENST00000371621ENST00000541532PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5CDS-intronENST00000371621ENST00000543171PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5UTR-3CDSENST00000541713ENST00000337233PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5UTR-3CDSENST00000541713ENST00000359949PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5UTR-3UTRENST00000541713ENST00000540930PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5UTR-3UTRENST00000541713ENST00000541532PTPN1chr20

49127127

+P2RX4chr12

121654937

+
5UTR-intronENST00000541713ENST00000543171PTPN1chr20

49127127

+P2RX4chr12

121654937

+

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FusionProtFeatures for PTPN1_P2RX4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTPN1

P18031

P2RX4

Q99571

Tyrosine-protein phosphatase which acts as a regulatorof endoplasmic reticulum unfolded protein response. Mediatesdephosphorylation of EIF2AK3/PERK; inactivating the protein kinaseactivity of EIF2AK3/PERK. May play an important role in CKII- andp60c-src-induced signal transduction cascades. May regulate theEFNA5-EPHA3 signaling pathway which modulates cell reorganizationand cell-cell repulsion. May also regulate the hepatocyte growthfactor receptor signaling pathway through dephosphorylation ofMET. {ECO:0000269|PubMed:18819921, ECO:0000269|PubMed:21135139,ECO:0000269|PubMed:22169477}.

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 PTPN1_P2RX4


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 PTPN1_P2RX4


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
PTPN1GSK3B, GRB2, IRS1, CAV1, EGFR, CRK, BCAR1, CTNNB1, STAT5A, STAT5B, NTRK1, NTRK2, NTRK3, LTK, TYK2, JAK2, INSR, IGF1R, GHR, STAM2, ILF3, SLC25A3, MCAT, MARCKSL1, LAMTOR3, HNRNPU, ZMPSTE24, STAT3, ATF2, CSNK2A1, SRC, ATP4A, ASS1, RFWD2, IL1B, ASGR2, HMOX2, SLC39A4, LYPD3, ENPP6, ZACN, PLTP, LYPD6, KRAS, AGR3, BCAS3, CASC3, CASZ1, CCL5, CDH13, DIRAS3, FAM84B, KLK7, MRC2, RHOBTB2, SNAI1, THRSP, VPS45, HERC2, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, ATP6V1B2, ATP6V0A1, COL5A1, STOM, FLOT2, GALNT2, MSN, PHB, ABCD3, SMARCD2, ATP6V0D1, GOSR1, MVP, FLOT1, PHB2, LTN1, GOLIM4, BCOR, WRAP53, MREG, PCNP, KIDINS220, RNF213, ARHGAP39, PTRF, CDH1, ACTB, APLP2, CASC4, SNRPD2, TOMM70A, CTDNEP1, C5AR2, TMEM63A, C3AR1, GPR21, GHITM, SLCO6A1, TMPRSS3, AMTN, MRAP2, GPR114, KIAA1467, SLC39A12, APLNR, DUSP1, DCUN1D5, PISD, COX11, NDUFAF4, NARS, PTRH2, TBC1D15, NPPC, PFN2, ARL1, DHCR24, AIP, RAB5C, PGRMC1, SEC61A1, CDIPT, SLC27A4, ILVBL, DHCR7, TRIP13, ARF4, HEATR3, PCMT1, ARF1, CCDC47, CDK4, FLAD1, RMDN3, CLK2, LATP2RX4CDH5, WNT4, MCM2, KRTAP5-9, PIH1D3, NOTCH2NL, C17orf62, EIF2B5, EMC1, FDFT1, ARMCX3, FAM20B, EIF2B1, GALNT1, SPTLC2, TMEM246, HS2ST1, PIGH, TNPO3, ADCK4, EIF2B3, EIF2B4, SAAL1, EIF2B2, DNAJC19, KCNJ8, EMC7, PLD6, SPPL2B, CSGALNACT2, GLT8D1, ORC4


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 PTPN1_P2RX4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePTPN1P18031DB01133Tiludronic acidTyrosine-protein phosphatase non-receptor type 1small moleculeapproved|investigational|vet_approved
TgeneP2RX4Q99571DB09119Eslicarbazepine acetateP2X purinoceptor 4small moleculeapproved

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RelatedDiseases for PTPN1_P2RX4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPN1C0019829Hodgkin Disease1CTD_human
HgenePTPN1C0021655Insulin Resistance1CTD_human
HgenePTPN1C0023893Liver Cirrhosis, Experimental1CTD_human
HgenePTPN1C0025063Mediastinal Neoplasms1CTD_human
HgenePTPN1C0028754Obesity1CTD_human
HgenePTPN1C0035372Rett Syndrome1CTD_human
HgenePTPN1C0036341Schizophrenia1PSYGENET
HgenePTPN1C0079731B-Cell Lymphomas1CTD_human
TgeneP2RX4C0014544Epilepsy1CTD_human
TgeneP2RX4C0014556Epilepsy, Temporal Lobe1CTD_human