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Fusion gene ID: 18959 |
FusionGeneSummary for KIT_UGT2B7 |
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Fusion gene information | Fusion gene name: KIT_UGT2B7 | Fusion gene ID: 18959 | Hgene | Tgene | Gene symbol | KIT | UGT2B7 | Gene ID | 3815 | 7364 |
Gene name | KIT proto-oncogene receptor tyrosine kinase | UDP glucuronosyltransferase family 2 member B7 | |
Synonyms | C-Kit|CD117|PBT|SCFR | UDPGT 2B7|UDPGT 2B9|UDPGT2B7|UDPGTH2|UDPGTh-2|UGT2B9 | |
Cytomap | 4q12 | 4q13.2 | |
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 | UDP-glucuronosyltransferase 2B73,4-catechol estrogen specific3,4-catechol estrogen-specific UDPGTUDP glucuronosyltransferase 2 family, polypeptide B7UDP-glucuronosyltransferase 2B9UDP-glucuronyltransferase, family 2, beta-7 | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | P10721 | P16662 | |
Ensembl transtripts involved in fusion gene | ENST00000288135, | ENST00000509763, ENST00000305231, ENST00000508661, | |
Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 1 X 1 X 1=1 |
# samples | 6 | 1 | |
** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: KIT [Title/Abstract] AND UGT2B7 [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) |
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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 | UGT2B7 | GO:0008209 | androgen metabolic process | 17442341 |
Tgene | UGT2B7 | GO:0052695 | cellular glucuronidation | 17442341|20056724|22579593 |
![]() (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 | SKCM | TCGA-EB-A44O-01A | KIT | chr4 | 55524248 | + | UGT2B7 | chr4 | 69955190 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3UTR | ENST00000288135 | ENST00000509763 | KIT | chr4 | 55524248 | + | UGT2B7 | chr4 | 69955190 | + |
5CDS-intron | ENST00000288135 | ENST00000305231 | KIT | chr4 | 55524248 | + | UGT2B7 | chr4 | 69955190 | + |
5CDS-intron | ENST00000288135 | ENST00000508661 | KIT | chr4 | 55524248 | + | UGT2B7 | chr4 | 69955190 | + |
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FusionProtFeatures for KIT_UGT2B7 |
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Hgene | Tgene |
KIT | UGT2B7 |
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}. | UDPGT is of major importance in the conjugation andsubsequent elimination of potentially toxic xenobiotics andendogenous compounds. {ECO:0000269|PubMed:17442341}. Its unique specificity for 3,4-catechol estrogens andestriol suggests it may play an important role in regulating thelevel and activity of these potent and active estrogenmetabolites. Is also active with androsterone, hyodeoxycholic acidand tetrachlorocatechol (in vitro). {ECO:0000269|PubMed:17442341}. |
![]() * 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_UGT2B7 |
![]() (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_UGT2B7 |
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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 | UGT2B7 | GABRA3, CYP3A4 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KIT_UGT2B7 |
![]() (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_UGT2B7 |
![]() (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 | UGT2B7 | C0005695 | Bladder Neoplasm | 1 | CTD_human |