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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: 6201

FusionGeneSummary for CD4_PTPN11

check button Fusion gene summary
Fusion gene informationFusion gene name: CD4_PTPN11
Fusion gene ID: 6201
HgeneTgene
Gene symbol

CD4

PTPN11

Gene ID

920

5781

Gene nameCD4 moleculeprotein tyrosine phosphatase, non-receptor type 11
SynonymsCD4mutBPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2
Cytomap

12p13.31

12q24.13

Type of geneprotein-codingprotein-coding
DescriptionT-cell surface glycoprotein CD4CD4 antigen (p55)CD4 receptorT-cell surface antigen T4/Leu-3tyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C
Modification date2018052720180527
UniProtAcc

P01730

Q06124

Ensembl transtripts involved in fusion geneENST00000011653, ENST00000541982, 
ENST00000538827, 
ENST00000531326, 
ENST00000392597, ENST00000351677, 
Fusion gene scores* DoF score3 X 3 X 2=188 X 7 X 3=168
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: CD4 [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
HgeneCD4

GO:0001934

positive regulation of protein phosphorylation

24942581

HgeneCD4

GO:0006948

induction by virus of host cell-cell fusion

9166430

HgeneCD4

GO:0030217

T cell differentiation

1533274

HgeneCD4

GO:0032507

maintenance of protein location in cell

15128768

HgeneCD4

GO:0033674

positive regulation of kinase activity

24942581

HgeneCD4

GO:0035723

interleukin-15-mediated signaling pathway

24942581

HgeneCD4

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

24942581

HgeneCD4

GO:0043410

positive regulation of MAPK cascade

24942581

HgeneCD4

GO:0045058

T cell selection

9551897

HgeneCD4

GO:0045657

positive regulation of monocyte differentiation

24942581

HgeneCD4

GO:0045860

positive regulation of protein kinase activity

2118992

HgeneCD4

GO:0045893

positive regulation of transcription, DNA-templated

24942581

HgeneCD4

GO:0046598

positive regulation of viral entry into host cell

24942581

HgeneCD4

GO:0050863

regulation of T cell activation

1533274

HgeneCD4

GO:0051924

regulation of calcium ion transport

24942581

HgeneCD4

GO:0070374

positive regulation of ERK1 and ERK2 cascade

24942581

HgeneCD4

GO:0097011

cellular response to granulocyte macrophage colony-stimulating factor stimulus

24942581

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
ChiTaRS3.1AA722635CD4chr12

6929913

-PTPN11chr12

112945636

-
* 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-intronENST00000011653ENST00000531326CD4chr12

6929913

-PTPN11chr12

112945636

-
3UTR-intronENST00000011653ENST00000392597CD4chr12

6929913

-PTPN11chr12

112945636

-
3UTR-3UTRENST00000011653ENST00000351677CD4chr12

6929913

-PTPN11chr12

112945636

-
intron-intronENST00000541982ENST00000531326CD4chr12

6929913

-PTPN11chr12

112945636

-
intron-intronENST00000541982ENST00000392597CD4chr12

6929913

-PTPN11chr12

112945636

-
intron-3UTRENST00000541982ENST00000351677CD4chr12

6929913

-PTPN11chr12

112945636

-
intron-intronENST00000538827ENST00000531326CD4chr12

6929913

-PTPN11chr12

112945636

-
intron-intronENST00000538827ENST00000392597CD4chr12

6929913

-PTPN11chr12

112945636

-
intron-3UTRENST00000538827ENST00000351677CD4chr12

6929913

-PTPN11chr12

112945636

-

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FusionProtFeatures for CD4_PTPN11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD4

P01730

PTPN11

Q06124

Integral membrane glycoprotein that plays an essentialrole in the immune response and serves multiple functions inresponses against both external and internal offenses. In T-cells,functions primarily as a coreceptor for MHC class IImolecule:peptide complex. The antigens presented by class IIpeptides are derived from extracellular proteins while class Ipeptides are derived from cytosolic proteins. Interactssimultaneously with the T-cell receptor (TCR) and the MHC class IIpresented by antigen presenting cells (APCs). In turn, recruitsthe Src kinase LCK to the vicinity of the TCR-CD3 complex. LCKthen initiates different intracellular signaling pathways byphosphorylating various substrates ultimately leading tolymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells,plays a role in differentiation/activation, cytokine expressionand cell migration in a TCR/LCK-independent pathway. Participatesin the development of T-helper cells in the thymus and triggersthe differentiation of monocytes into functional maturemacrophages. {ECO:0000269|PubMed:16951326,ECO:0000269|PubMed:24942581, ECO:0000269|PubMed:2823150}. (Microbial infection) Primary receptor for humanimmunodeficiency virus-1 (HIV-1) (PubMed:2214026, PubMed:16331979,PubMed:9641677, PubMed:12089508). Down-regulated by HIV-1 Vpu(PubMed:17346169). Acts as a receptor for Human Herpes virus7/HHV-7 (PubMed:7909607). {ECO:0000269|PubMed:12089508,ECO:0000269|PubMed:16331979, ECO:0000269|PubMed:17346169,ECO:0000269|PubMed:2214026, ECO:0000269|PubMed:7909607,ECO:0000269|PubMed:9641677}. 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 CD4_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 CD4_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 CD4_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
HgeneCD4P01730DB00098Antithymocyte immunoglobulin (rabbit)T-cell surface glycoprotein CD4biotechapproved

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RelatedDiseases for CD4_PTPN11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD4C0013264Muscular Dystrophy, Duchenne1CTD_human
HgeneCD4C0027746Nerve Degeneration1CTD_human
HgeneCD4C0162526AIDS-Related Opportunistic Infections1CTD_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