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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: 29465

FusionGeneSummary for PTPN6_PTPN6

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPN6_PTPN6
Fusion gene ID: 29465
HgeneTgene
Gene symbol

PTPN6

PTPN6

Gene ID

5777

5777

Gene nameprotein tyrosine phosphatase, non-receptor type 6protein tyrosine phosphatase, non-receptor type 6
SynonymsHCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1HCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1
Cytomap

12p13.31

12p13.31

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein phosphatase non-receptor type 6hematopoietic cell phosphatasehematopoietic cell protein-tyrosine phosphataseprotein-tyrosine phosphatase 1Cprotein-tyrosine phosphatase SHP-1tyrosine-protein phosphatase non-receptor type 6hematopoietic cell phosphatasehematopoietic cell protein-tyrosine phosphataseprotein-tyrosine phosphatase 1Cprotein-tyrosine phosphatase SHP-1
Modification date2018052720180527
UniProtAcc

P29350

P29350

Ensembl transtripts involved in fusion geneENST00000399448, ENST00000447931, 
ENST00000318974, ENST00000456013, 
ENST00000539029, 		ENST00000399448, 
ENST00000447931, ENST00000318974, 
ENST00000456013, ENST00000539029, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 4 X 3=48
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTPN6 [Title/Abstract] AND PTPN6 [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
HgenePTPN6

GO:0006470

protein dephosphorylation

11266449

HgenePTPN6

GO:0008283

cell proliferation

11266449

HgenePTPN6

GO:0018108

peptidyl-tyrosine phosphorylation

9285411|18802077

HgenePTPN6

GO:0030154

cell differentiation

11266449

HgenePTPN6

GO:0070372

regulation of ERK1 and ERK2 cascade

11266449

TgenePTPN6

GO:0006470

protein dephosphorylation

11266449

TgenePTPN6

GO:0008283

cell proliferation

11266449

TgenePTPN6

GO:0018108

peptidyl-tyrosine phosphorylation

9285411|18802077

TgenePTPN6

GO:0030154

cell differentiation

11266449

TgenePTPN6

GO:0070372

regulation of ERK1 and ERK2 cascade

11266449


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
ChiTaRS3.1BF762332PTPN6chr12

7065630

+PTPN6chr12

7064352

+
* 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
In-frameENST00000399448ENST00000399448PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000399448ENST00000447931PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000399448ENST00000318974PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000399448ENST00000456013PTPN6chr12

7065630

+PTPN6chr12

7064352

+
5CDS-intronENST00000399448ENST00000539029PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000447931ENST00000399448PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000447931ENST00000447931PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000447931ENST00000318974PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000447931ENST00000456013PTPN6chr12

7065630

+PTPN6chr12

7064352

+
5CDS-intronENST00000447931ENST00000539029PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000318974ENST00000399448PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000318974ENST00000447931PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000318974ENST00000318974PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000318974ENST00000456013PTPN6chr12

7065630

+PTPN6chr12

7064352

+
5CDS-intronENST00000318974ENST00000539029PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000456013ENST00000399448PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000456013ENST00000447931PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000456013ENST00000318974PTPN6chr12

7065630

+PTPN6chr12

7064352

+
In-frameENST00000456013ENST00000456013PTPN6chr12

7065630

+PTPN6chr12

7064352

+
5CDS-intronENST00000456013ENST00000539029PTPN6chr12

7065630

+PTPN6chr12

7064352

+
intron-3CDSENST00000539029ENST00000399448PTPN6chr12

7065630

+PTPN6chr12

7064352

+
intron-3CDSENST00000539029ENST00000447931PTPN6chr12

7065630

+PTPN6chr12

7064352

+
intron-3CDSENST00000539029ENST00000318974PTPN6chr12

7065630

+PTPN6chr12

7064352

+
intron-3CDSENST00000539029ENST00000456013PTPN6chr12

7065630

+PTPN6chr12

7064352

+
intron-intronENST00000539029ENST00000539029PTPN6chr12

7065630

+PTPN6chr12

7064352

+

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FusionProtFeatures for PTPN6_PTPN6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTPN6

P29350

PTPN6

P29350

Modulates signaling by tyrosine phosphorylated cellsurface receptors such as KIT and the EGF receptor/EGFR. The SH2regions may interact with other cellular components to modulateits own phosphatase activity against interacting substrates.Together with MTUS1, induces UBE2V2 expression upon angiotensin IIstimulation. Plays a key role in hematopoiesis.{ECO:0000269|PubMed:11266449}. Modulates signaling by tyrosine phosphorylated cellsurface receptors such as KIT and the EGF receptor/EGFR. The SH2regions may interact with other cellular components to modulateits own phosphatase activity against interacting substrates.Together with MTUS1, induces UBE2V2 expression upon angiotensin IIstimulation. Plays a key role in hematopoiesis.{ECO:0000269|PubMed:11266449}.

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 PTPN6_PTPN6


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 PTPN6_PTPN6


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 PTPN6_PTPN6


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 PTPN6_PTPN6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPN6C0006663Calcinosis1CTD_human
HgenePTPN6C0018824Heart valve disease1CTD_human
HgenePTPN6C0035228Respiratory Hypersensitivity1CTD_human
HgenePTPN6C0036341Schizophrenia1PSYGENET
TgenePTPN6C0006663Calcinosis1CTD_human
TgenePTPN6C0018824Heart valve disease1CTD_human
TgenePTPN6C0035228Respiratory Hypersensitivity1CTD_human
TgenePTPN6C0036341Schizophrenia1PSYGENET