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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: 29415

FusionGeneSummary for PTPN12_GSAP

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPN12_GSAP
Fusion gene ID: 29415
HgeneTgene
Gene symbol

PTPN12

GSAP

Gene ID

5782

54103

Gene nameprotein tyrosine phosphatase, non-receptor type 12gamma-secretase activating protein
SynonymsPTP-PEST|PTPG1PION
Cytomap

7q11.23

7q11.23

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein phosphatase non-receptor type 12protein-tyrosine phosphatase G1gamma-secretase-activating proteinpigeon homologprotein pigeon homolog
Modification date2018052220180519
UniProtAcc

Q05209

A4D1B5

Ensembl transtripts involved in fusion geneENST00000248594, ENST00000415482, 
ENST00000435495, 
ENST00000257626, 
ENST00000441833, ENST00000440473, 
ENST00000430584, 
Fusion gene scores* DoF score9 X 8 X 5=3602 X 2 X 2=8
# samples 112
** MAII scorelog2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PTPN12 [Title/Abstract] AND GSAP [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
HgenePTPN12

GO:0006470

protein dephosphorylation

27134172

HgenePTPN12

GO:0035335

peptidyl-tyrosine dephosphorylation

27134172

TgeneGSAP

GO:0030162

regulation of proteolysis

20811458

TgeneGSAP

GO:1902004

positive regulation of amyloid-beta formation

20811458


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
TCGALDESCATCGA-LN-A49U-01APTPN12chr7

77221573

+GSAPchr7

77035422

-
* 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-shiftENST00000248594ENST00000257626PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-intronENST00000248594ENST00000441833PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-intronENST00000248594ENST00000440473PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-5UTRENST00000248594ENST00000430584PTPN12chr7

77221573

+GSAPchr7

77035422

-
Frame-shiftENST00000415482ENST00000257626PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-intronENST00000415482ENST00000441833PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-intronENST00000415482ENST00000440473PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-5UTRENST00000415482ENST00000430584PTPN12chr7

77221573

+GSAPchr7

77035422

-
Frame-shiftENST00000435495ENST00000257626PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-intronENST00000435495ENST00000441833PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-intronENST00000435495ENST00000440473PTPN12chr7

77221573

+GSAPchr7

77035422

-
5CDS-5UTRENST00000435495ENST00000430584PTPN12chr7

77221573

+GSAPchr7

77035422

-

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FusionProtFeatures for PTPN12_GSAP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTPN12

Q05209

GSAP

A4D1B5

Regulator of gamma-secretase activity, whichspecifically activates the production of amyloid-beta protein(amyloid-beta protein 40 and amyloid-beta protein 42), withoutaffecting the cleavage of other gamma-secretase targets such hasNotch. The gamma-secretase complex is an endoprotease complex thatcatalyzes the intramembrane cleavage of integral membrane proteinssuch as Notch receptors and APP (amyloid-beta precursor protein).Specifically promotes the gamma-cleavage of APP CTF-alpha (alsonamed APP-CTF) by the gamma-secretase complex to generate amyloid-beta, while it reduces the epsilon-cleavage of APP CTF-alpha,leading to a low production of AICD.{ECO:0000269|PubMed:20811458}.

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 PTPN12_GSAP


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 PTPN12_GSAP


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
PTPN12PSTPIP1, SHC1, PXN, BCAR1, JAK2, NEDD9, EFS, TGFB1I1, GSN, GRB2, PTK2B, EGFR, SORBS2, WASF1, APP, STX16, CGA, CSH1, CSH2, BAG6, UTRN, PSG9, ZFP2, IFT20, THAP2, TEX10, RBM19, SMAD5, ANKS1A, EPN1, NUSAP1, PACSIN2, PLOD2, DEK, DNPEP, GANAB, TNS3, TRIM47, UGP2, VASN, NTRK1, CENPJ, NANOG, ERBB4, FGFR2, FGFR4, IGF1R, KDR, PSTPIP2, ARHGAP10, ASAP1, NCK2, CSK, LPXN, PTPN6, AIFM1, VAPA, LMTK2, AATK, ERBB3, ROR2, PTK7, TRIM25GSAPPSEN1, PSENEN, NCSTN, APP


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 PTPN12_GSAP


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 PTPN12_GSAP


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