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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: 25835

FusionGeneSummary for PAK2_PTPN11

check button Fusion gene summary
Fusion gene informationFusion gene name: PAK2_PTPN11
Fusion gene ID: 25835
HgeneTgene
Gene symbol

PAK2

PTPN11

Gene ID

5586

5781

Gene nameprotein kinase N2protein tyrosine phosphatase, non-receptor type 11
SynonymsPAK2|PRK2|PRKCL2|PRO2042|Pak-2|STK7BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2
Cytomap

1p22.2

12q24.13

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase N2PKN gammacardiolipin-activated protein kinase Pak2protein kinase C-like 2protein-kinase C-related kinase 2tyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C
Modification date2018052320180527
UniProtAcc

Q13177

Q06124

Ensembl transtripts involved in fusion geneENST00000327134, ENST00000531326, 
ENST00000392597, ENST00000351677, 
Fusion gene scores* DoF score9 X 7 X 10=6308 X 7 X 3=168
# samples 138
** MAII scorelog2(13/630*10)=-2.27684020535882
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: PAK2 [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
HgenePAK2

GO:0006468

protein phosphorylation

17332740

HgenePAK2

GO:0010631

epithelial cell migration

21754995

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
ChiTaRS3.1AW390149PAK2chr3

196556219

-PTPN11chr12

112946528

+
* 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
3UTR-intronENST00000327134ENST00000531326PAK2chr3

196556219

-PTPN11chr12

112946528

+
3UTR-intronENST00000327134ENST00000392597PAK2chr3

196556219

-PTPN11chr12

112946528

+
3UTR-3UTRENST00000327134ENST00000351677PAK2chr3

196556219

-PTPN11chr12

112946528

+

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FusionProtFeatures for PAK2_PTPN11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAK2

Q13177

PTPN11

Q06124

Serine/threonine protein kinase that plays a role in avariety of different signaling pathways including cytoskeletonregulation, cell motility, cell cycle progression, apoptosis orproliferation. Acts as downstream effector of the small GTPasesCDC42 and RAC1. Activation by the binding of active CDC42 and RAC1results in a conformational change and a subsequentautophosphorylation on several serine and/or threonine residues.Full-length PAK2 stimulates cell survival and cell growth.Phosphorylates MAPK4 and MAPK6 and activates the downstream targetMAPKAPK5, a regulator of F-actin polymerization and cellmigration. Phosphorylates JUN and plays an important role in EGF-induced cell proliferation. Phosphorylates many other substratesincluding histone H4 to promote assembly of H3.3 and H4 intonucleosomes, BAD, ribosomal protein S6, or MBP. Additionally,associates with ARHGEF7 and GIT1 to perform kinase-independentfunctions such as spindle orientation control during mitosis. Onthe other hand, apoptotic stimuli such as DNA damage lead tocaspase-mediated cleavage of PAK2, generating PAK-2p34, an activep34 fragment that translocates to the nucleus and promotescellular apoptosis involving the JNK signaling pathway. Caspase-activated PAK2 phosphorylates MKNK1 and reduces cellulartranslation. {ECO:0000269|PubMed:12853446,ECO:0000269|PubMed:15234964, ECO:0000269|PubMed:16617111,ECO:0000269|PubMed:19923322, ECO:0000269|PubMed:21177766,ECO:0000269|PubMed:21317288, ECO:0000269|PubMed:21724829,ECO:0000269|PubMed:9171063}. 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


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FusionGeneSequence for PAK2_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).

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FusionGenePPI for PAK2_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


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RelatedDrugs for PAK2_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

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RelatedDiseases for PAK2_PTPN11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAK2C0033687Proteinuria1CTD_human
HgenePAK2C0036341Schizophrenia1CTD_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