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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: 3493

FusionGeneSummary for ATP7A_PTPRR

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP7A_PTPRR
Fusion gene ID: 3493
HgeneTgene
Gene symbol

ATP7A

PTPRR

Gene ID

538

5801

Gene nameATPase copper transporting alphaprotein tyrosine phosphatase, receptor type R
SynonymsDSMAX|MK|MNK|SMAX3EC-PTP|PCPTP1|PTP-SL|PTPBR7|PTPRQ
Cytomap

Xq21.1

12q15

Type of geneprotein-codingprotein-coding
Descriptioncopper-transporting ATPase 1ATPase, Cu++ transporting, alpha polypeptideCu++-transporting P-type ATPaseMenkes disease-associated proteincopper pump 1receptor-type tyrosine-protein phosphatase RCh-1 PTPaseNC-PTPCOM1R-PTP-Rch-1PTPaseprotein tyrosine phosphatase Cr1PTPaseprotein-tyrosine phosphatase NC-PTPCOM1protein-tyrosine phosphatase PCPTP1
Modification date2018052320180519
UniProtAcc

Q04656

Q15256

Ensembl transtripts involved in fusion geneENST00000350425, ENST00000343533, 
ENST00000341514, 
ENST00000283228, 
ENST00000440835, ENST00000537619, 
ENST00000378778, ENST00000342084, 
ENST00000549308, 
Fusion gene scores* DoF score3 X 2 X 4=2433 X 13 X 10=4290
# samples 431
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(31/4290*10)=-3.79063752711267
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP7A [Title/Abstract] AND PTPRR [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
HgeneATP7A

GO:0051353

positive regulation of oxidoreductase activity

11092760


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
TCGARVSARCTCGA-DX-AB2F-01AATP7AchrX

77166332

+PTPRRchr12

71033057

-
* 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
5UTR-3CDSENST00000350425ENST00000283228ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-3CDSENST00000350425ENST00000440835ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000350425ENST00000537619ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000350425ENST00000378778ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000350425ENST00000342084ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000350425ENST00000549308ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-3CDSENST00000343533ENST00000283228ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-3CDSENST00000343533ENST00000440835ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000343533ENST00000537619ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000343533ENST00000378778ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000343533ENST00000342084ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000343533ENST00000549308ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-3CDSENST00000341514ENST00000283228ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-3CDSENST00000341514ENST00000440835ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000341514ENST00000537619ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000341514ENST00000378778ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000341514ENST00000342084ATP7AchrX

77166332

+PTPRRchr12

71033057

-
5UTR-5UTRENST00000341514ENST00000549308ATP7AchrX

77166332

+PTPRRchr12

71033057

-

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FusionProtFeatures for ATP7A_PTPRR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP7A

Q04656

PTPRR

Q15256

May supply copper to copper-requiring proteins withinthe secretory pathway, when localized in the trans-Golgi network.Under conditions of elevated extracellular copper, it relocalizedto the plasma membrane where it functions in the efflux of copperfrom cells. Sequesters mitogen-activated protein kinases (MAPKs)such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactiveform. The MAPKs bind to a dephosphorylated kinase interactingmotif, phosphorylation of which by the protein kinase A complexreleases the MAPKs for activation and translocation into thenucleus (By similarity). {ECO:0000250}.

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 ATP7A_PTPRR


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 ATP7A_PTPRR


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
ATP7AGLRX, ATOX1, CLU, COMMD1, ACIN1, APBB2, DNAJB2, LGALS9, NTRK1, TMEM17, PLK1, COG6, COG5, CD83, RPS27, NCR3LG1, C3AR1, CLEC2D, LAMP3, RAB29, ITM2APTPRRMAPK1, MAPK3, MAPK7, MAPK14, NTRK1, CEP290, EGFR, ERBB2, IGF1R, RET, MST1R, ERBB4, FGFR2, FGFR4, KDR, TEK, INSR, ALDH18A1, DHPS, PNMA2, TRIM11, KIAA0196, TBC1D5, DNAJC13, SNX6, PTPRR, MAPK1IP1L, MAPKAPK3, MAD2L1BP, CBS, MAPK11, CCT8L1P, HSPA4L, LMTK2, AATK, ERBB3, RYK, ROR1, ROR2, PTK7, EPHA2


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 ATP7A_PTPRR


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 ATP7A_PTPRR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP7AC0022716Menkes Kinky Hair Syndrome35CTD_human;ORPHANET;UNIPROT
HgeneATP7AC0268353Cutis laxa, x-linked3CTD_human;ORPHANET;UNIPROT
HgeneATP7AC0003496Aortic Rupture2CTD_human
HgeneATP7AC0027854Neurologic Manifestations2CTD_human
HgeneATP7AC0002871Anemia1CTD_human
HgeneATP7AC0004134Ataxia1CTD_human
HgeneATP7AC0009375Colonic Neoplasms1CTD_human
HgeneATP7AC0018273Growth Disorders1CTD_human
HgeneATP7AC0019054Hemolysis (disorder)1CTD_human
HgeneATP7AC0019189Hepatitis, Chronic1CTD_human
HgeneATP7AC0020542Pulmonary Hypertension1CTD_human
HgeneATP7AC0023904Liver Neoplasms, Experimental1CTD_human
HgeneATP7AC0036572Seizures1CTD_human;HPO
HgeneATP7AC0040822Tremor1CTD_human
HgeneATP7AC0522224Paralysed1CTD_human
HgeneATP7AC1845359Spinal Muscular Atrophy, Distal, X-Linked 31CTD_human;ORPHANET;UNIPROT
HgeneATP7AC2936380Neointima1CTD_human
TgenePTPRRC0041696Unipolar Depression1PSYGENET
TgenePTPRRC1269683Major Depressive Disorder1PSYGENET