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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: 29484

FusionGeneSummary for PTPRA_SLC48A1

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPRA_SLC48A1
Fusion gene ID: 29484
HgeneTgene
Gene symbol

PTPRA

SLC48A1

Gene ID

5786

55652

Gene nameprotein tyrosine phosphatase, receptor type Asolute carrier family 48 member 1
SynonymsHEPTP|HLPR|HPTPA|HPTPalpha|LRP|PTPA|PTPRL2|R-PTP-alpha|RPTPAHRG-1|HRG1|hHRG-1
Cytomap

20p13

12q13.11

Type of geneprotein-codingprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase alphaLeukocyte common antigen-related peptide (protein tyrosine phosphate)PTPLCA-related phosphatasePTPase-alphaprotein tyrosine phosphatase, receptor type, alpha polypeptideprotein-tyrosine phosphatase alphheme transporter HRG1heme-responsive gene 1 protein homologsolute carrier family 48 (heme transporter), member 1
Modification date2018052720180519
UniProtAcc

P18433

Q6P1K1

Ensembl transtripts involved in fusion geneENST00000380393, ENST00000216877, 
ENST00000358719, ENST00000399903, 
ENST00000425918, ENST00000318266, 
ENST00000356147, 
ENST00000547002, 
ENST00000442892, ENST00000442218, 
ENST00000476104, 
Fusion gene scores* DoF score13 X 10 X 8=10405 X 5 X 2=50
# samples 145
** MAII scorelog2(14/1040*10)=-2.89308479608349
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: PTPRA [Title/Abstract] AND SLC48A1 [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
TgeneSLC48A1

GO:0015886

heme transport

18418376


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
ChiTaRS3.1AK024387PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
* 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-intronENST00000380393ENST00000547002PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000380393ENST00000442892PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000380393ENST00000442218PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000380393ENST00000476104PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000216877ENST00000547002PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000216877ENST00000442892PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000216877ENST00000442218PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000216877ENST00000476104PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000358719ENST00000547002PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000358719ENST00000442892PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000358719ENST00000442218PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000358719ENST00000476104PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000399903ENST00000547002PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000399903ENST00000442892PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000399903ENST00000442218PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000399903ENST00000476104PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000425918ENST00000547002PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000425918ENST00000442892PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000425918ENST00000442218PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000425918ENST00000476104PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000318266ENST00000547002PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000318266ENST00000442892PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000318266ENST00000442218PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000318266ENST00000476104PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000356147ENST00000547002PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000356147ENST00000442892PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000356147ENST00000442218PTPRAchr20

2962677

+SLC48A1chr12

48180484

-
intron-intronENST00000356147ENST00000476104PTPRAchr20

2962677

+SLC48A1chr12

48180484

-

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FusionProtFeatures for PTPRA_SLC48A1


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

P18433

SLC48A1

Q6P1K1

Heme transporter that regulates intracellular hemeavailability through the endosomal or lysosomal compartment.{ECO:0000269|PubMed:18418376}.

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 PTPRA_SLC48A1


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 PTPRA_SLC48A1


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 PTPRA_SLC48A1


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 PTPRA_SLC48A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPRAC0036341Schizophrenia2PSYGENET
HgenePTPRAC0151744Myocardial Ischemia1CTD_human