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Fusion Protein:KIT-PDGFRA |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: KIT-PDGFRA | FusionPDB ID: 42806 | FusionGDB2.0 ID: 42806 | Hgene | Tgene | Gene symbol | KIT | PDGFRA | Gene ID | 3815 | 5156 |
| Gene name | KIT proto-oncogene, receptor tyrosine kinase | platelet derived growth factor receptor alpha | |
| Synonyms | C-Kit|CD117|MASTC|PBT|SCFR | CD140A|PDGFR-2|PDGFR2 | |
| Cytomap | 4q12 | 4q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mast/stem cell growth factor receptor Kitc-Kit protooncogenep145 c-kitpiebald trait proteinproto-oncogene c-Kitproto-oncogene tyrosine-protein kinase Kitsoluble KIT variant 1tyrosine-protein kinase Kitv-kit Hardy-Zuckerman 4 feline sarcoma viral o | platelet-derived growth factor receptor alphaCD140 antigen-like family member ACD140a antigenPDGF-R-alphaalpha-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 2platelet-derived growth factor receptor, alpha polype | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | P21583 | P16234 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000288135, | ENST00000257290, ENST00000508170, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 9 X 8 X 5=360 | 18 X 27 X 8=3888 |
| # samples | 9 | 17 | |
| ** MAII score | log2(9/360*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/3888*10)=-4.51542156746808 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: KIT [Title/Abstract] AND PDGFRA [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | KIT(55524248)-PDGFRA(55124924), # samples:1 KIT(55524248)-PDGFRA(55127262), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | KIT-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KIT-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KIT-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. KIT-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 | KIT | GO:0000187 | activation of MAPK activity | 21640708 |
| Hgene | KIT | GO:0002551 | mast cell chemotaxis | 20100931 |
| Hgene | KIT | GO:0018108 | peptidyl-tyrosine phosphorylation | 21640708 |
| Hgene | KIT | GO:0019221 | cytokine-mediated signaling pathway | 21640708 |
| Hgene | KIT | GO:0031532 | actin cytoskeleton reorganization | 1721869 |
| Hgene | KIT | GO:0032762 | mast cell cytokine production | 20100931 |
| Hgene | KIT | GO:0038093 | Fc receptor signaling pathway | 20100931 |
| Hgene | KIT | GO:0038109 | Kit signaling pathway | 17662946 |
| Hgene | KIT | GO:0046777 | protein autophosphorylation | 21640708 |
| Hgene | KIT | GO:0060326 | cell chemotaxis | 1721869 |
| Hgene | KIT | GO:1905065 | positive regulation of vascular smooth muscle cell differentiation | 19088079 |
| Tgene | PDGFRA | GO:0008284 | positive regulation of cell proliferation | 10806482 |
| Tgene | PDGFRA | GO:0010544 | negative regulation of platelet activation | 8188664 |
| Tgene | PDGFRA | GO:0018108 | peptidyl-tyrosine phosphorylation | 1646396|2536956|8188664 |
| Tgene | PDGFRA | GO:0030335 | positive regulation of cell migration | 17470632 |
| Tgene | PDGFRA | GO:0034614 | cellular response to reactive oxygen species | 24190966 |
| Tgene | PDGFRA | GO:0038091 | positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | 17470632 |
| Tgene | PDGFRA | GO:0046777 | protein autophosphorylation | 1646396|2536956|8188664 |
| Tgene | PDGFRA | GO:0048008 | platelet-derived growth factor receptor signaling pathway | 2536956|10806482 |
| Tgene | PDGFRA | GO:0048146 | positive regulation of fibroblast proliferation | 10806482 |
| Fusion gene breakpoints across KIT (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across PDGFRA (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-BH-A1F0-01A | KIT | chr4 | 55524248 | + | PDGFRA | chr4 | 55124924 | + |
| ChimerDB4 | BRCA | TCGA-BH-A1F0-01A | KIT | chr4 | 55524248 | + | PDGFRA | chr4 | 55127262 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000288135 | KIT | chr4 | 55524248 | + | ENST00000257290 | PDGFRA | chr4 | 55127262 | + | 6360 | 164 | 25 | 3384 | 1119 |
| ENST00000288135 | KIT | chr4 | 55524248 | + | ENST00000508170 | PDGFRA | chr4 | 55127262 | + | 2169 | 164 | 25 | 771 | 248 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000288135 | ENST00000257290 | KIT | chr4 | 55524248 | + | PDGFRA | chr4 | 55127262 | + | 0.000167511 | 0.9998325 |
| ENST00000288135 | ENST00000508170 | KIT | chr4 | 55524248 | + | PDGFRA | chr4 | 55127262 | + | 0.000497528 | 0.9995024 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >42806_42806_1_KIT-PDGFRA_KIT_chr4_55524248_ENST00000288135_PDGFRA_chr4_55127262_ENST00000257290_length(amino acids)=1119AA_BP=46 MPRSLHLGESWNVDQSSDPIAATAMRGARGAWDFLCVLLLLLRVQTGLSLILCQLSLPSILPNENEKVVQLNSSFSLRCFGESEVSWQYP MSEEESSDVEIRNEENNSGLFVTVLEVSSASAAHTGLYTCYYNHTQTEENELEGRHIYIYVPDPDVAFVPLGMTDYLVIVEDDDSAIIPC RTTDPETPVTLHNSEGVVPASYDSRQGFNGTFTVGPYICEATVKGKKFQTIPFNVYALKATSELDLEMEALKTVYKSGETIVVTCAVFNN EVVDLQWTYPGEVKGKGITMLEEIKVPSIKLVYTLTVPEATVKDSGDYECAARQATREVKEMKKVTISVHEKGFIEIKPTFSQLEAVNLH EVKHFVVEVRAYPPPRISWLKNNLTLIENLTEITTDVEKIQEIRYRSKLKLIRAKEEDSGHYTIVAQNEDAVKSYTFELLTQVPSSILDL VDDHHGSTGGQTVRCTAEGTPLPDIEWMICKDIKKCNNETSWTILANNVSNIITEIHSRDRSTVEGRVTFAKVEETIAVRCLAKNLLGAE NRELKLVAPTLRSELTVAAAVLVLLVIVIISLIVLVVIWKQKPRYEIRWRVIESISPDGHEYIYVDPMQLPYDSRWEFPRDGLVLGRVLG SGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHKNR DSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEVKN LLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIFDN LYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQYKK SYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEESAI -------------------------------------------------------------- >42806_42806_2_KIT-PDGFRA_KIT_chr4_55524248_ENST00000288135_PDGFRA_chr4_55127262_ENST00000508170_length(amino acids)=248AA_BP=46 MPRSLHLGESWNVDQSSDPIAATAMRGARGAWDFLCVLLLLLRVQTGLSLILCQLSLPSILPNENEKVVQLNSSFSLRCFGESEVSWQYP MSEEESSDVEIRNEENNSGLFVTVLEVSSASAAHTGLYTCYYNHTQTEENELEGRHIYIYVPDPDVAFVPLGMTDYLVIVEDDDSAIIPC -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr4:55524248/chr4:55124924) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KIT | PDGFRA |
| FUNCTION: Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. KITLG/SCF and KIT promote activation of PLCG1, leading to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KITLG/SCF acts synergistically with other cytokines, probably interleukins. | FUNCTION: Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. {ECO:0000269|PubMed:10734113, ECO:0000269|PubMed:10947961, ECO:0000269|PubMed:11297552, ECO:0000269|PubMed:12522257, ECO:0000269|PubMed:1646396, ECO:0000269|PubMed:17087943, ECO:0000269|PubMed:1709159, ECO:0000269|PubMed:17141222, ECO:0000269|PubMed:20972453, ECO:0000269|PubMed:21224473, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:2554309, ECO:0000269|PubMed:8188664, ECO:0000269|PubMed:8760137, ECO:0000269|PubMed:8943348}. |
| 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. |
| - 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 |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 1041_1087 | 16.333333333333332 | 1090.0 | Compositional bias | Note=Ser-rich | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 1041_1087 | 16.333333333333332 | 219.0 | Compositional bias | Note=Ser-rich | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 117_201 | 16.333333333333332 | 1090.0 | Domain | Note=Ig-like C2-type 2 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 202_306 | 16.333333333333332 | 1090.0 | Domain | Note=Ig-like C2-type 3 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 24_113 | 16.333333333333332 | 1090.0 | Domain | Note=Ig-like C2-type 1 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 319_410 | 16.333333333333332 | 1090.0 | Domain | Note=Ig-like C2-type 4 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 414_517 | 16.333333333333332 | 1090.0 | Domain | Note=Ig-like C2-type 5 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 593_954 | 16.333333333333332 | 1090.0 | Domain | Protein kinase | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 117_201 | 16.333333333333332 | 219.0 | Domain | Note=Ig-like C2-type 2 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 202_306 | 16.333333333333332 | 219.0 | Domain | Note=Ig-like C2-type 3 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 24_113 | 16.333333333333332 | 219.0 | Domain | Note=Ig-like C2-type 1 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 319_410 | 16.333333333333332 | 219.0 | Domain | Note=Ig-like C2-type 4 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 414_517 | 16.333333333333332 | 219.0 | Domain | Note=Ig-like C2-type 5 | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 593_954 | 16.333333333333332 | 219.0 | Domain | Protein kinase | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 599_607 | 16.333333333333332 | 1090.0 | Nucleotide binding | ATP | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 599_607 | 16.333333333333332 | 219.0 | Nucleotide binding | ATP | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 24_528 | 16.333333333333332 | 1090.0 | Topological domain | Extracellular | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 550_1089 | 16.333333333333332 | 1090.0 | Topological domain | Cytoplasmic | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 24_528 | 16.333333333333332 | 219.0 | Topological domain | Extracellular | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 550_1089 | 16.333333333333332 | 219.0 | Topological domain | Cytoplasmic | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000257290 | 1 | 23 | 529_549 | 16.333333333333332 | 1090.0 | Transmembrane | Helical | |
| Tgene | PDGFRA | chr4:55524248 | chr4:55127262 | ENST00000508170 | 1 | 4 | 529_549 | 16.333333333333332 | 219.0 | Transmembrane | Helical |
| - 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 |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 121_205 | 22.333333333333332 | 977.0 | Domain | Note=Ig-like C2-type 2 |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 212_308 | 22.333333333333332 | 977.0 | Domain | Note=Ig-like C2-type 3 |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 27_112 | 22.333333333333332 | 977.0 | Domain | Note=Ig-like C2-type 1 |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 317_410 | 22.333333333333332 | 977.0 | Domain | Note=Ig-like C2-type 4 |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 413_507 | 22.333333333333332 | 977.0 | Domain | Note=Ig-like C2-type 5 |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 589_937 | 22.333333333333332 | 977.0 | Domain | Protein kinase |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 596_603 | 22.333333333333332 | 977.0 | Nucleotide binding | Note=ATP |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 671_677 | 22.333333333333332 | 977.0 | Nucleotide binding | Note=ATP |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 26_524 | 22.333333333333332 | 977.0 | Topological domain | Extracellular |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 546_976 | 22.333333333333332 | 977.0 | Topological domain | Cytoplasmic |
| Hgene | KIT | chr4:55524248 | chr4:55127262 | ENST00000288135 | + | 1 | 21 | 525_545 | 22.333333333333332 | 977.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| KIT | |
| PDGFRA |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to KIT-PDGFRA |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to KIT-PDGFRA |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PDGFRA | C0238198 | Gastrointestinal Stromal Tumors | 10 | CGI;CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | PDGFRA | C3179349 | Gastrointestinal Stromal Sarcoma | 9 | CLINGEN;CTD_human;ORPHANET |
| Tgene | PDGFRA | C0346421 | Chronic eosinophilic leukemia | 4 | ORPHANET |
| Tgene | PDGFRA | C0206141 | Idiopathic Hypereosinophilic Syndrome | 3 | CTD_human;GENOMICS_ENGLAND |
| Tgene | PDGFRA | C0006413 | Burkitt Lymphoma | 2 | ORPHANET |
| Tgene | PDGFRA | C0206142 | Eosinophilic leukemia | 2 | CTD_human |
| Tgene | PDGFRA | C0206143 | Loeffler's Endocarditis | 2 | CTD_human |
| Tgene | PDGFRA | C1292769 | Precursor B-cell lymphoblastic leukemia | 2 | ORPHANET |
| Tgene | PDGFRA | C1540912 | Hypereosinophilic syndrome | 2 | CGI;CTD_human |
| Tgene | PDGFRA | C0008925 | Cleft Palate | 1 | CTD_human |
| Tgene | PDGFRA | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
| Tgene | PDGFRA | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | PDGFRA | C0018802 | Congestive heart failure | 1 | CTD_human |
| Tgene | PDGFRA | C0023212 | Left-Sided Heart Failure | 1 | CTD_human |
| Tgene | PDGFRA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | PDGFRA | C0024115 | Lung diseases | 1 | CTD_human |
| Tgene | PDGFRA | C0025149 | Medulloblastoma | 1 | CTD_human |
| Tgene | PDGFRA | C0035238 | Congenital abnormality of respiratory system | 1 | CTD_human |
| Tgene | PDGFRA | C0038219 | Status Dysraphicus | 1 | CTD_human |
| Tgene | PDGFRA | C0080178 | Spina Bifida | 1 | CTD_human |
| Tgene | PDGFRA | C0205833 | Medullomyoblastoma | 1 | CTD_human |
| Tgene | PDGFRA | C0206637 | Mesenchymal Chondrosarcoma | 1 | CTD_human |
| Tgene | PDGFRA | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human |
| Tgene | PDGFRA | C0266508 | Rachischisis | 1 | CTD_human |
| Tgene | PDGFRA | C0278510 | Childhood Medulloblastoma | 1 | CTD_human |
| Tgene | PDGFRA | C0278876 | Adult Medulloblastoma | 1 | CTD_human |
| Tgene | PDGFRA | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | PDGFRA | C0751291 | Desmoplastic Medulloblastoma | 1 | CTD_human |
| Tgene | PDGFRA | C1275668 | Melanotic medulloblastoma | 1 | CTD_human |
| Tgene | PDGFRA | C1837218 | Cleft palate, isolated | 1 | CTD_human |
| Tgene | PDGFRA | C1959583 | Myocardial Failure | 1 | CTD_human |
| Tgene | PDGFRA | C1961112 | Heart Decompensation | 1 | CTD_human |
| Tgene | PDGFRA | C2718076 | Fetal Mummification | 1 | CTD_human |
| Tgene | PDGFRA | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | PSYGENET |
| Tgene | PDGFRA | C4545381 | Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement | 1 | ORPHANET |
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