FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 29408

FusionGeneSummary for PTPN11_PTPN11

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPN11_PTPN11
Fusion gene ID: 29408
HgeneTgene
Gene symbol

PTPN11

PTPN11

Gene ID

5781

5781

Gene nameprotein tyrosine phosphatase, non-receptor type 11protein tyrosine phosphatase, non-receptor type 11
SynonymsBPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2
Cytomap

12q24.13

12q24.13

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2Ctyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C
Modification date2018052720180527
UniProtAcc

Q06124

Q06124

Ensembl transtripts involved in fusion geneENST00000531326, ENST00000392597, 
ENST00000351677, 
ENST00000531326, 
ENST00000392597, ENST00000351677, 
Fusion gene scores* DoF score7 X 6 X 4=1688 X 7 X 3=168
# samples 68
** MAII scorelog2(6/168*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTPN11 [Title/Abstract] AND PTPN11 [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
HgenePTPN11

GO:0035335

peptidyl-tyrosine dephosphorylation

15133037

HgenePTPN11

GO:0038127

ERBB signaling pathway

15133037

HgenePTPN11

GO:0043254

regulation of protein complex assembly

7493946

HgenePTPN11

GO:0048013

ephrin receptor signaling pathway

10655584

HgenePTPN11

GO:2001275

positive regulation of glucose import in response to insulin stimulus

7493946

TgenePTPN11

GO:0035335

peptidyl-tyrosine dephosphorylation

15133037

TgenePTPN11

GO:0038127

ERBB signaling pathway

15133037

TgenePTPN11

GO:0043254

regulation of protein complex assembly

7493946

TgenePTPN11

GO:0048013

ephrin receptor signaling pathway

10655584

TgenePTPN11

GO:2001275

positive regulation of glucose import in response to insulin stimulus

7493946


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
ChiTaRS3.1AW362486PTPN11chr12

112946157

+PTPN11chr12

112946325

-
* 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-intronENST00000531326ENST00000531326PTPN11chr12

112946157

+PTPN11chr12

112946325

-
intron-intronENST00000531326ENST00000392597PTPN11chr12

112946157

+PTPN11chr12

112946325

-
intron-3UTRENST00000531326ENST00000351677PTPN11chr12

112946157

+PTPN11chr12

112946325

-
intron-intronENST00000392597ENST00000531326PTPN11chr12

112946157

+PTPN11chr12

112946325

-
intron-intronENST00000392597ENST00000392597PTPN11chr12

112946157

+PTPN11chr12

112946325

-
intron-3UTRENST00000392597ENST00000351677PTPN11chr12

112946157

+PTPN11chr12

112946325

-
3UTR-intronENST00000351677ENST00000531326PTPN11chr12

112946157

+PTPN11chr12

112946325

-
3UTR-intronENST00000351677ENST00000392597PTPN11chr12

112946157

+PTPN11chr12

112946325

-
3UTR-3UTRENST00000351677ENST00000351677PTPN11chr12

112946157

+PTPN11chr12

112946325

-

Top

FusionProtFeatures for PTPN11_PTPN11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTPN11

Q06124

PTPN11

Q06124

Acts downstream of various receptor and cytoplasmicprotein tyrosine kinases to participate in the signal transductionfrom the cell surface to the nucleus. Positively regulates MAPKsignal transduction pathway (PubMed:28074573). DephosphorylatesGAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2at 'Tyr-722' resulting in stimulatation of its RhoA bindingactivity. Dephosphorylates CDC73 (PubMed:26742426).{ECO:0000269|PubMed:10655584, ECO:0000269|PubMed:18559669,ECO:0000269|PubMed:18829466, ECO:0000269|PubMed:26742426,ECO:0000269|PubMed:28074573}. Acts downstream of various receptor and cytoplasmicprotein tyrosine kinases to participate in the signal transductionfrom the cell surface to the nucleus. Positively regulates MAPKsignal transduction pathway (PubMed:28074573). DephosphorylatesGAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2at 'Tyr-722' resulting in stimulatation of its RhoA bindingactivity. Dephosphorylates CDC73 (PubMed:26742426).{ECO:0000269|PubMed:10655584, ECO:0000269|PubMed:18559669,ECO:0000269|PubMed:18829466, ECO:0000269|PubMed:26742426,ECO:0000269|PubMed:28074573}.

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


Top

FusionGeneSequence for PTPN11_PTPN11


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).

Top

FusionGenePPI for PTPN11_PTPN11


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


Top

RelatedDrugs for PTPN11_PTPN11


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PTPN11_PTPN11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPN11C0028326Noonan Syndrome24CTD_human;ORPHANET;UNIPROT
HgenePTPN11C0175704LEOPARD Syndrome10CTD_human;ORPHANET;UNIPROT
HgenePTPN11C0349639Juvenile Myelomonocytic Leukemia4CTD_human;HPO;ORPHANET;UNIPROT
HgenePTPN11C0014084Enchondromatosis2CTD_human;HPO
HgenePTPN11C0001418Adenocarcinoma1CTD_human
HgenePTPN11C0004114Astrocytoma1CTD_human
HgenePTPN11C0007137Squamous cell carcinoma1CTD_human
HgenePTPN11C0015306Hereditary Multiple Exostoses1CTD_human
HgenePTPN11C0023418leukemia1CTD_human
HgenePTPN11C0027819Neuroblastoma1CTD_human
HgenePTPN11C0029423Cartilaginous exostosis1CTD_human
HgenePTPN11C0587248Costello syndrome (disorder)1CTD_human
HgenePTPN11C1275081Cardio-facio-cutaneous syndrome1CTD_human
TgenePTPN11C0028326Noonan Syndrome24CTD_human;ORPHANET;UNIPROT
TgenePTPN11C0175704LEOPARD Syndrome10CTD_human;ORPHANET;UNIPROT
TgenePTPN11C0349639Juvenile Myelomonocytic Leukemia4CTD_human;HPO;ORPHANET;UNIPROT
TgenePTPN11C0014084Enchondromatosis2CTD_human;HPO
TgenePTPN11C0001418Adenocarcinoma1CTD_human
TgenePTPN11C0004114Astrocytoma1CTD_human
TgenePTPN11C0007137Squamous cell carcinoma1CTD_human
TgenePTPN11C0015306Hereditary Multiple Exostoses1CTD_human
TgenePTPN11C0023418leukemia1CTD_human
TgenePTPN11C0027819Neuroblastoma1CTD_human
TgenePTPN11C0029423Cartilaginous exostosis1CTD_human
TgenePTPN11C0587248Costello syndrome (disorder)1CTD_human
TgenePTPN11C1275081Cardio-facio-cutaneous syndrome1CTD_human