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Fusion gene ID: 6201 |
FusionGeneSummary for CD4_PTPN11 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CD4_PTPN11 | Fusion gene ID: 6201 | Hgene | Tgene | Gene symbol | CD4 | PTPN11 | Gene ID | 920 | 5781 |
Gene name | CD4 molecule | protein tyrosine phosphatase, non-receptor type 11 | |
Synonyms | CD4mut | BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2 | |
Cytomap | 12p13.31 | 12q24.13 | |
Type of gene | protein-coding | protein-coding | |
Description | T-cell surface glycoprotein CD4CD4 antigen (p55)CD4 receptorT-cell surface antigen T4/Leu-3 | tyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C | |
Modification date | 20180527 | 20180527 | |
UniProtAcc | P01730 | Q06124 | |
Ensembl transtripts involved in fusion gene | ENST00000011653, ENST00000541982, ENST00000538827, | ENST00000531326, ENST00000392597, ENST00000351677, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 8 X 7 X 3=168 |
# samples | 3 | 8 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CD4 | GO:0001934 | positive regulation of protein phosphorylation | 24942581 |
Hgene | CD4 | GO:0006948 | induction by virus of host cell-cell fusion | 9166430 |
Hgene | CD4 | GO:0030217 | T cell differentiation | 1533274 |
Hgene | CD4 | GO:0032507 | maintenance of protein location in cell | 15128768 |
Hgene | CD4 | GO:0033674 | positive regulation of kinase activity | 24942581 |
Hgene | CD4 | GO:0035723 | interleukin-15-mediated signaling pathway | 24942581 |
Hgene | CD4 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 24942581 |
Hgene | CD4 | GO:0043410 | positive regulation of MAPK cascade | 24942581 |
Hgene | CD4 | GO:0045058 | T cell selection | 9551897 |
Hgene | CD4 | GO:0045657 | positive regulation of monocyte differentiation | 24942581 |
Hgene | CD4 | GO:0045860 | positive regulation of protein kinase activity | 2118992 |
Hgene | CD4 | GO:0045893 | positive regulation of transcription, DNA-templated | 24942581 |
Hgene | CD4 | GO:0046598 | positive regulation of viral entry into host cell | 24942581 |
Hgene | CD4 | GO:0050863 | regulation of T cell activation | 1533274 |
Hgene | CD4 | GO:0051924 | regulation of calcium ion transport | 24942581 |
Hgene | CD4 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 24942581 |
Hgene | CD4 | GO:0097011 | cellular response to granulocyte macrophage colony-stimulating factor stimulus | 24942581 |
Tgene | PTPN11 | GO:0035335 | peptidyl-tyrosine dephosphorylation | 15133037 |
Tgene | PTPN11 | GO:0038127 | ERBB signaling pathway | 15133037 |
Tgene | PTPN11 | GO:0043254 | regulation of protein complex assembly | 7493946 |
Tgene | PTPN11 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
Tgene | PTPN11 | GO:2001275 | positive regulation of glucose import in response to insulin stimulus | 7493946 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AA722635 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-intron | ENST00000011653 | ENST00000531326 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
3UTR-intron | ENST00000011653 | ENST00000392597 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
3UTR-3UTR | ENST00000011653 | ENST00000351677 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
intron-intron | ENST00000541982 | ENST00000531326 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
intron-intron | ENST00000541982 | ENST00000392597 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
intron-3UTR | ENST00000541982 | ENST00000351677 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
intron-intron | ENST00000538827 | ENST00000531326 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
intron-intron | ENST00000538827 | ENST00000392597 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
intron-3UTR | ENST00000538827 | ENST00000351677 | CD4 | chr12 | 6929913 | - | PTPN11 | chr12 | 112945636 | - |
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FusionProtFeatures for CD4_PTPN11 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CD4 | PTPN11 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CD4_PTPN11 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CD4_PTPN11 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CD4 | P01730 | DB00098 | Antithymocyte immunoglobulin (rabbit) | T-cell surface glycoprotein CD4 | biotech | approved |
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RelatedDiseases for CD4_PTPN11 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CD4 | C0013264 | Muscular Dystrophy, Duchenne | 1 | CTD_human |
Hgene | CD4 | C0027746 | Nerve Degeneration | 1 | CTD_human |
Hgene | CD4 | C0162526 | AIDS-Related Opportunistic Infections | 1 | CTD_human |
Tgene | PTPN11 | C0028326 | Noonan Syndrome | 24 | CTD_human;ORPHANET;UNIPROT |
Tgene | PTPN11 | C0175704 | LEOPARD Syndrome | 10 | CTD_human;ORPHANET;UNIPROT |
Tgene | PTPN11 | C0349639 | Juvenile Myelomonocytic Leukemia | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | PTPN11 | C0014084 | Enchondromatosis | 2 | CTD_human;HPO |
Tgene | PTPN11 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | PTPN11 | C0004114 | Astrocytoma | 1 | CTD_human |
Tgene | PTPN11 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | PTPN11 | C0015306 | Hereditary Multiple Exostoses | 1 | CTD_human |
Tgene | PTPN11 | C0023418 | leukemia | 1 | CTD_human |
Tgene | PTPN11 | C0027819 | Neuroblastoma | 1 | CTD_human |
Tgene | PTPN11 | C0029423 | Cartilaginous exostosis | 1 | CTD_human |
Tgene | PTPN11 | C0587248 | Costello syndrome (disorder) | 1 | CTD_human |
Tgene | PTPN11 | C1275081 | Cardio-facio-cutaneous syndrome | 1 | CTD_human |