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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: 29485

FusionGeneSummary for PTPRA_SREBF2

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPRA_SREBF2
Fusion gene ID: 29485
HgeneTgene
Gene symbol

PTPRA

SREBF2

Gene ID

5786

6721

Gene nameprotein tyrosine phosphatase, receptor type Asterol regulatory element binding transcription factor 2
SynonymsHEPTP|HLPR|HPTPA|HPTPalpha|LRP|PTPA|PTPRL2|R-PTP-alpha|RPTPASREBP-2|SREBP2|bHLHd2
Cytomap

20p13

22q13.2

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 alphsterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2
Modification date2018052720180522
UniProtAcc

P18433

Q12772

Ensembl transtripts involved in fusion geneENST00000380393, ENST00000216877, 
ENST00000358719, ENST00000399903, 
ENST00000425918, ENST00000318266, 
ENST00000356147, 
ENST00000361204, 
ENST00000491541, 
Fusion gene scores* DoF score13 X 10 X 8=104012 X 12 X 5=720
# samples 1414
** MAII scorelog2(14/1040*10)=-2.89308479608349
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/720*10)=-2.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTPRA [Title/Abstract] AND SREBF2 [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
TgeneSREBF2

GO:0000122

negative regulation of transcription by RNA polymerase II

15358760|19098903

TgeneSREBF2

GO:0010886

positive regulation of cholesterol storage

15358760

TgeneSREBF2

GO:0045944

positive regulation of transcription by RNA polymerase II

12242332|12446768

TgeneSREBF2

GO:0072368

regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter

15358760

TgeneSREBF2

GO:0090370

negative regulation of cholesterol efflux

15358760


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
ChiTaRS3.1AA948295PTPRAchr20

3013174

+SREBF2chr22

42270613

-
ChiTaRS3.1AI655913PTPRAchr20

3013174

+SREBF2chr22

42270613

-
* 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-intronENST00000380393ENST00000361204PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000380393ENST00000491541PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000216877ENST00000361204PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000216877ENST00000491541PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000358719ENST00000361204PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000358719ENST00000491541PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000399903ENST00000361204PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000399903ENST00000491541PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000425918ENST00000361204PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000425918ENST00000491541PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000318266ENST00000361204PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000318266ENST00000491541PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000356147ENST00000361204PTPRAchr20

3013174

+SREBF2chr22

42270613

-
intron-intronENST00000356147ENST00000491541PTPRAchr20

3013174

+SREBF2chr22

42270613

-

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FusionProtFeatures for PTPRA_SREBF2


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

P18433

SREBF2

Q12772

Transcriptional activator required for lipidhomeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acidsynthesis pathway (By similarity). Binds the sterol regulatoryelement 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking regionof the LDRL and HMG-CoA synthase genes. {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 PTPRA_SREBF2


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_SREBF2


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_SREBF2


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_SREBF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPRAC0036341Schizophrenia2PSYGENET
HgenePTPRAC0151744Myocardial Ischemia1CTD_human
TgeneSREBF2C0021655Insulin Resistance1CTD_human
TgeneSREBF2C0022661Kidney Failure, Chronic1CTD_human
TgeneSREBF2C0036341Schizophrenia1PSYGENET
TgeneSREBF2C0038356Stomach Neoplasms1CTD_human
TgeneSREBF2C2239176Liver carcinoma1CTD_human