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Fusion gene ID: 18958 |
FusionGeneSummary for KIT_SLC4A4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KIT_SLC4A4 | Fusion gene ID: 18958 | Hgene | Tgene | Gene symbol | KIT | SLC4A4 | Gene ID | 3815 | 8671 |
| Gene name | KIT proto-oncogene receptor tyrosine kinase | solute carrier family 4 member 4 | |
| Synonyms | C-Kit|CD117|PBT|SCFR | HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC | |
| Cytomap | 4q12 | 4q13.3 | |
| 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 | electrogenic sodium bicarbonate cotransporter 1Na(+)/HCO3(-) cotransportersodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)solute carrier family 4 (sodium bicarbonate cotransporter | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P10721 | Q9Y6R1 | |
| Ensembl transtripts involved in fusion gene | ENST00000288135, | ENST00000264485, ENST00000425175, ENST00000351898, ENST00000340595, ENST00000514331, ENST00000512686, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 10 X 8 X 5=400 |
| # samples | 6 | 11 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/400*10)=-1.86249647625006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KIT [Title/Abstract] AND SLC4A4 [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 | 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 | SLC4A4 | GO:0006814 | sodium ion transport | 16769890 |
| 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 | RV | LUSC | TCGA-85-8287-01A | KIT | chr4 | 55599358 | + | SLC4A4 | chr4 | 72102293 | + |
| * 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 |
| 5CDS-5UTR | ENST00000288135 | ENST00000264485 | KIT | chr4 | 55599358 | + | SLC4A4 | chr4 | 72102293 | + |
| 5CDS-5UTR | ENST00000288135 | ENST00000425175 | KIT | chr4 | 55599358 | + | SLC4A4 | chr4 | 72102293 | + |
| 5CDS-5UTR | ENST00000288135 | ENST00000351898 | KIT | chr4 | 55599358 | + | SLC4A4 | chr4 | 72102293 | + |
| 5CDS-intron | ENST00000288135 | ENST00000340595 | KIT | chr4 | 55599358 | + | SLC4A4 | chr4 | 72102293 | + |
| 5CDS-intron | ENST00000288135 | ENST00000514331 | KIT | chr4 | 55599358 | + | SLC4A4 | chr4 | 72102293 | + |
| 5CDS-intron | ENST00000288135 | ENST00000512686 | KIT | chr4 | 55599358 | + | SLC4A4 | chr4 | 72102293 | + |
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FusionProtFeatures for KIT_SLC4A4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KIT | SLC4A4 |
| Tyrosine-protein kinase that acts as cell-surfacereceptor for the cytokine KITLG/SCF and plays an essential role inthe regulation of cell survival and proliferation, hematopoiesis,stem cell maintenance, gametogenesis, mast cell development,migration and function, and in melanogenesis. In response toKITLG/SCF binding, KIT can activate several signaling pathways.Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates theAKT1 signaling pathway by phosphorylation of PIK3R1, theregulatory subunit of phosphatidylinositol 3-kinase. Activated KITalso transmits signals via GRB2 and activation of RAS, RAF1 andthe MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activationof STAT family members STAT1, STAT3, STAT5A and STAT5B. Activationof PLCG1 leads to the production of the cellular signalingmolecules diacylglycerol and inositol 1,4,5-trisphosphate. KITsignaling is modulated by protein phosphatases, and by rapidinternalization and degradation of the receptor. Activated KITpromotes phosphorylation of the protein phosphatases PTPN6/SHP-1and PTPRU, and of the transcription factors STAT1, STAT3, STAT5Aand STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoformCrk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.{ECO:0000269|PubMed:10397721, ECO:0000269|PubMed:12444928,ECO:0000269|PubMed:12511554, ECO:0000269|PubMed:12878163,ECO:0000269|PubMed:17904548, ECO:0000269|PubMed:19265199,ECO:0000269|PubMed:21135090, ECO:0000269|PubMed:21640708,ECO:0000269|PubMed:7520444, ECO:0000269|PubMed:9528781}. |
| 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 KIT_SLC4A4 |
| 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 KIT_SLC4A4 |
| 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 |
| KIT | BCR, CD9, CD63, CD81, GRB2, PIK3R1, PIK3R2, SOCS1, TEC, CRKL, PLCG1, INPP5D, YES1, GRB7, STAT1, CLTC, LCK, DOK1, LYN, PTPN11, JAK2, KITLG, GRB10, MATK, PTPN6, MPDZ, PTPRO, GRAP, SH3KBP1, CBLB, CBL, SOCS6, PDGFRA, SRC, CRK, IL7R, JAK3, STAT5B, PIK3CG, CSF2RA, IRF3, HSP90B1, RPS6KB1, TP53, SMO, ILKAP, PTPN20B, STYX, PIK3CA, KIT, CSF1R | SLC4A4 | SREBF2 |
| - 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 KIT_SLC4A4 |
| 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 | KIT | P10721 | DB00619 | Imatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved |
| Hgene | KIT | P10721 | DB06589 | Pazopanib | Mast/stem cell growth factor receptor Kit | small molecule | approved |
| Hgene | KIT | P10721 | DB08896 | Regorafenib | Mast/stem cell growth factor receptor Kit | small molecule | approved |
| Hgene | KIT | P10721 | DB00398 | Sorafenib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational |
| Hgene | KIT | P10721 | DB01254 | Dasatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational |
| Hgene | KIT | P10721 | DB01268 | Sunitinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational |
| Hgene | KIT | P10721 | DB04868 | Nilotinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational |
| Hgene | KIT | P10721 | DB08901 | Ponatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational |
| Hgene | KIT | P10721 | DB09078 | Lenvatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational |
| Hgene | KIT | P10721 | DB09103 | Ancestim | Mast/stem cell growth factor receptor Kit | biotech | approved|investigational|withdrawn |
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RelatedDiseases for KIT_SLC4A4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KIT | C0080024 | Piebaldism | 7 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | KIT | C0238198 | Gastrointestinal Stromal Tumors | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | KIT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | KIT | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| Hgene | KIT | C0024115 | Lung diseases | 1 | CTD_human |
| Hgene | KIT | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
| Hgene | KIT | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Hgene | KIT | C0221013 | Mastocytosis, Systemic | 1 | CTD_human |
| Hgene | KIT | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Hgene | KIT | C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | 1 | CTD_human |
| Hgene | KIT | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | SLC4A4 | C1970309 | Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SLC4A4 | C0001126 | Renal tubular acidosis | 1 | CTD_human |
| Tgene | SLC4A4 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Tgene | SLC4A4 | C0010038 | Corneal Opacity | 1 | CTD_human |
| Tgene | SLC4A4 | C0017601 | Glaucoma | 1 | CTD_human;HPO |
| Tgene | SLC4A4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | SLC4A4 | C0086543 | Cataract | 1 | CTD_human;HPO |
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