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Fusion gene ID: 30140 |
FusionGeneSummary for RAC1_PTPN11 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAC1_PTPN11 | Fusion gene ID: 30140 | Hgene | Tgene | Gene symbol | RAC1 | PTPN11 | Gene ID | 6035 | 5781 |
| Gene name | ribonuclease A family member 1, pancreatic | protein tyrosine phosphatase, non-receptor type 11 | |
| Synonyms | RAC1|RIB1|RNS1 | BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2 | |
| Cytomap | 14q11.2 | 12q24.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ribonuclease pancreaticHP-RNaseRIB-1RNase 1RNase ARNase upI-1ribonuclease 1ribonuclease A C1ribonuclease, RNase A family, 1 (pancreatic) | tyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P63000 | Q06124 | |
| Ensembl transtripts involved in fusion gene | ENST00000348035, ENST00000356142, ENST00000488373, | ENST00000531326, ENST00000392597, ENST00000351677, | |
| Fusion gene scores | * DoF score | 6 X 6 X 1=36 | 8 X 7 X 3=168 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/36*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: RAC1 [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 | RAC1 | GO:0051607 | defense response to virus | 9826755 |
| Hgene | RAC1 | GO:0090501 | RNA phosphodiester bond hydrolysis | 9826755 |
| 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 | AW811214 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| * 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-intron | ENST00000348035 | ENST00000531326 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000348035 | ENST00000392597 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000348035 | ENST00000351677 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000356142 | ENST00000531326 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000356142 | ENST00000392597 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000356142 | ENST00000351677 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000488373 | ENST00000531326 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000488373 | ENST00000392597 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
| intron-intron | ENST00000488373 | ENST00000351677 | RAC1 | chr7 | 6418261 | - | PTPN11 | chr12 | 112898454 | + |
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FusionProtFeatures for RAC1_PTPN11 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAC1 | PTPN11 |
| Plasma membrane-associated small GTPase which cyclesbetween active GTP-bound and inactive GDP-bound states. In itsactive state, binds to a variety of effector proteins to regulatecellular responses such as secretory processes, phagocytosis ofapoptotic cells, epithelial cell polarization, neurons adhesion,migration and differentiation, and growth-factor induced formationof membrane ruffles. Rac1 p21/rho GDI heterodimer is the activecomponent of the cytosolic factor sigma 1, which is involved instimulation of the NADPH oxidase activity in macrophages.Essential for the SPATA13-mediated regulation of cell migrationand adhesion assembly and disassembly. Stimulates PKN2 kinaseactivity. In concert with RAB7A, plays a role in regulating theformation of RBs (ruffled borders) in osteoclasts. In podocytes,promotes nuclear shuttling of NR3C2; this modulation is requiredfor a proper kidney functioning. Required for atypical chemokinereceptor ACKR2-induced LIMK1-PAK1-dependent phosphorylation ofcofilin (CFL1) and for up-regulation of ACKR2 from endosomalcompartment to cell membrane, increasing its efficiency inchemokine uptake and degradation. In synapses, seems to mediatethe regulation of F-actin cluster formation performed by SHANK3.{ECO:0000250|UniProtKB:P63001, ECO:0000269|PubMed:1643658,ECO:0000269|PubMed:28886345, ECO:0000269|PubMed:9121475}. Isoform B has an accelerated GEF-independent GDP/GTPexchange and an impaired GTP hydrolysis, which is restoredpartially by GTPase-activating proteins. It is able to bind to theGTPase-binding domain of PAK but not full-length PAK in a GTP-dependent manner, suggesting that the insertion does notcompletely abolish effector interaction. | 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 RAC1_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 RAC1_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 RAC1_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 | RAC1 | P63000 | DB00993 | Azathioprine | Ras-related C3 botulinum toxin substrate 1 | small molecule | approved |
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RelatedDiseases for RAC1_PTPN11 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAC1 | C0011570 | Mental Depression | 2 | PSYGENET |
| Hgene | RAC1 | C0011581 | Depressive disorder | 2 | PSYGENET |
| Hgene | RAC1 | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
| Hgene | RAC1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | RAC1 | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| Hgene | RAC1 | C0018801 | Heart failure | 1 | CTD_human |
| Hgene | RAC1 | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | RAC1 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | RAC1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | RAC1 | C2239176 | Liver carcinoma | 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 |
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