|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 29409 |
FusionGeneSummary for PTPN11_ZNF706 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTPN11_ZNF706 | Fusion gene ID: 29409 | Hgene | Tgene | Gene symbol | PTPN11 | ZNF706 | Gene ID | 5781 | 51123 |
| Gene name | protein tyrosine phosphatase, non-receptor type 11 | zinc finger protein 706 | |
| Synonyms | BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2 | HSPC038|PNAS-106|PNAS-113 | |
| Cytomap | 12q24.13 | 8q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C | zinc finger protein 706 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q06124 | Q9Y5V0 | |
| Ensembl transtripts involved in fusion gene | ENST00000531326, ENST00000392597, ENST00000351677, | ENST00000520984, ENST00000311212, ENST00000519744, ENST00000517844, ENST00000520347, ENST00000519882, ENST00000521272, ENST00000518336, | |
| Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 5 X 4 X 4=80 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/168*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PTPN11 [Title/Abstract] AND ZNF706 [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 | PTPN11 | GO:0035335 | peptidyl-tyrosine dephosphorylation | 15133037 |
| Hgene | PTPN11 | GO:0038127 | ERBB signaling pathway | 15133037 |
| Hgene | PTPN11 | GO:0043254 | regulation of protein complex assembly | 7493946 |
| Hgene | PTPN11 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
| Hgene | 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 |
| TCGA | LD | BLCA | TCGA-2F-A9KW-01A | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| * 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 |
| intron-5UTR | ENST00000531326 | ENST00000520984 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| intron-5UTR | ENST00000531326 | ENST00000311212 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| intron-5UTR | ENST00000531326 | ENST00000519744 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| intron-5UTR | ENST00000531326 | ENST00000517844 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| intron-5UTR | ENST00000531326 | ENST00000520347 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| intron-5UTR | ENST00000531326 | ENST00000519882 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| intron-5UTR | ENST00000531326 | ENST00000521272 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| intron-5UTR | ENST00000531326 | ENST00000518336 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000520984 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000311212 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000519744 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000517844 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000520347 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000519882 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000521272 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000392597 | ENST00000518336 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000520984 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000311212 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000519744 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000517844 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000520347 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000519882 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000521272 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
| 5CDS-5UTR | ENST00000351677 | ENST00000518336 | PTPN11 | chr12 | 112856929 | + | ZNF706 | chr8 | 102213971 | - |
Top |
FusionProtFeatures for PTPN11_ZNF706 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTPN11 | ZNF706 |
| 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}. | Transcription repressor involved in the exit ofembryonic stem cells (ESCs) from self-renewal. Acts by repressingexpression of KLF4. {ECO:0000250|UniProtKB:Q9D115}. |
| 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 |
Top |
FusionGeneSequence for PTPN11_ZNF706 |
| 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_ZNF706 |
| 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 |
| PTPN11 | SYNCRIP, EGFR, ERBB2, ERBB4, TREML1, BTLA, CSF2RB, STAT3, FRS2, IRS2, GRB2, ROS1, PDGFRB, STAT5A, STAT5B, INSR, CSF3R, JAK1, JAK2, IL4R, IL6ST, SOCS3, PLCG2, GAB2, IRS1, GAB3, IGF1R, PTK2, KIT, EPHA2, SLAMF1, INPP5D, PECAM1, SELE, GAB1, CAV1, CD33, BCAR1, C6orf25, EPOR, CDH5, CTNNB1, LAIR1, PILRA, FYN, CD84, LY9, PIK3R1, PRLR, SLAMF6, SOS1, MPZL1, SIGLEC11, PTK2B, GHR, CRKL, FCRL3, CEACAM1, SIT1, FCGR2B, PTPN11, CBL, SOCS1, ELAVL1, ERBB3, PAF1, CDC73, LEO1, CTR9, RTF1, WDR61, CBLB, CXCR4, LRRK1, MAP3K5, PIK3R2, CRK, CSF2RBP1, GSK3B, PPIF, FASN, RFWD2, CD274, VCAM1, IQCB1, MTPN, CHRAC1, EFHD2, MAPK14, OXCT1, RPIA, TRIM32, OVCA2, LGALS3, FCGR2A, FSD1, LGALS9, TCEAL1, CYP1A1, NTRK1, MAP2K1, STAMBP, LNX1, HIST1H2BG, FLT1, TXNIP, DNM2, PDGFRA, GAREML, LINC00673, PRPF19, SIRPA, FGFR2, FGFR4, KDR, TEK, DUSP13, SIGLEC5, NXT2, GPX7, GTF2E2, SNRNP27, THEMIS, PDCD1, FGB, LUM, TMEM220, NOSIP, MED21, PTPN6, AATK, ROR2, PTK7, EPHA1, GRASP, SRC, SIGLEC7, SIGLEC9, TRIM25, BEX1, BEX2, BLZF1, LINC01558, C9orf62, CTDSP1, DMRTC1, FAM71E1, GOLGA2, GTF2A2, NSUN5, NSUN5P2, ORMDL3, PLEKHA4, PNCK, POU2AF1, RANGRF, SERF2, SERPINF1, SRSF10, SLC38A1, SLN, STAT1, TLK1, TRMT2B | ZNF706 | APP, ATP6V1A, TXNDC5, CIT, SP100 |
| - 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 |
Top |
RelatedDrugs for PTPN11_ZNF706 |
| 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 |
Top |
RelatedDiseases for PTPN11_ZNF706 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PTPN11 | C0028326 | Noonan Syndrome | 24 | CTD_human;ORPHANET;UNIPROT |
| Hgene | PTPN11 | C0175704 | LEOPARD Syndrome | 10 | CTD_human;ORPHANET;UNIPROT |
| Hgene | PTPN11 | C0349639 | Juvenile Myelomonocytic Leukemia | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | PTPN11 | C0014084 | Enchondromatosis | 2 | CTD_human;HPO |
| Hgene | PTPN11 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | PTPN11 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | PTPN11 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | PTPN11 | C0015306 | Hereditary Multiple Exostoses | 1 | CTD_human |
| Hgene | PTPN11 | C0023418 | leukemia | 1 | CTD_human |
| Hgene | PTPN11 | C0027819 | Neuroblastoma | 1 | CTD_human |
| Hgene | PTPN11 | C0029423 | Cartilaginous exostosis | 1 | CTD_human |
| Hgene | PTPN11 | C0587248 | Costello syndrome (disorder) | 1 | CTD_human |
| Hgene | PTPN11 | C1275081 | Cardio-facio-cutaneous syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|