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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 18959

FusionGeneSummary for KIT_UGT2B7

check button Fusion gene summary
Fusion gene informationFusion gene name: KIT_UGT2B7
Fusion gene ID: 18959
HgeneTgene
Gene symbol

KIT

UGT2B7

Gene ID

3815

7364

Gene nameKIT proto-oncogene receptor tyrosine kinaseUDP glucuronosyltransferase family 2 member B7
SynonymsC-Kit|CD117|PBT|SCFRUDPGT 2B7|UDPGT 2B9|UDPGT2B7|UDPGTH2|UDPGTh-2|UGT2B9
Cytomap

4q12

4q13.2

Type of geneprotein-codingprotein-coding
Descriptionmast/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 oUDP-glucuronosyltransferase 2B73,4-catechol estrogen specific3,4-catechol estrogen-specific UDPGTUDP glucuronosyltransferase 2 family, polypeptide B7UDP-glucuronosyltransferase 2B9UDP-glucuronyltransferase, family 2, beta-7
Modification date2018052720180523
UniProtAcc

P10721

P16662

Ensembl transtripts involved in fusion geneENST00000288135, ENST00000509763, 
ENST00000305231, ENST00000508661, 
Fusion gene scores* DoF score6 X 5 X 4=1201 X 1 X 1=1
# samples 61
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneKIT

GO:0000187

activation of MAPK activity

21640708

HgeneKIT

GO:0002551

mast cell chemotaxis

20100931

HgeneKIT

GO:0018108

peptidyl-tyrosine phosphorylation

21640708

HgeneKIT

GO:0019221

cytokine-mediated signaling pathway

21640708

HgeneKIT

GO:0031532

actin cytoskeleton reorganization

1721869

HgeneKIT

GO:0032762

mast cell cytokine production

20100931

HgeneKIT

GO:0038093

Fc receptor signaling pathway

20100931

HgeneKIT

GO:0038109

Kit signaling pathway

17662946

HgeneKIT

GO:0046777

protein autophosphorylation

21640708

HgeneKIT

GO:0060326

cell chemotaxis

1721869

HgeneKIT

GO:1905065

positive regulation of vascular smooth muscle cell differentiation

19088079

TgeneUGT2B7

GO:0008209

androgen metabolic process

17442341

TgeneUGT2B7

GO:0052695

cellular glucuronidation

17442341|20056724|22579593


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSKCMTCGA-EB-A44O-01AKITchr4

55524248

+UGT2B7chr4

69955190

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000288135ENST00000509763KITchr4

55524248

+UGT2B7chr4

69955190

+
5CDS-intronENST00000288135ENST00000305231KITchr4

55524248

+UGT2B7chr4

69955190

+
5CDS-intronENST00000288135ENST00000508661KITchr4

55524248

+UGT2B7chr4

69955190

+

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FusionProtFeatures for KIT_UGT2B7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIT

P10721

UGT2B7

P16662

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for KIT_UGT2B7


check button 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_UGT2B7


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
KITBCR, 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, CSF1RUGT2B7GABRA3, CYP3A4


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KIT_UGT2B7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKITP10721DB00619ImatinibMast/stem cell growth factor receptor Kitsmall moleculeapproved
HgeneKITP10721DB06589PazopanibMast/stem cell growth factor receptor Kitsmall moleculeapproved
HgeneKITP10721DB08896RegorafenibMast/stem cell growth factor receptor Kitsmall moleculeapproved
HgeneKITP10721DB00398SorafenibMast/stem cell growth factor receptor Kitsmall moleculeapproved|investigational
HgeneKITP10721DB01254DasatinibMast/stem cell growth factor receptor Kitsmall moleculeapproved|investigational
HgeneKITP10721DB01268SunitinibMast/stem cell growth factor receptor Kitsmall moleculeapproved|investigational
HgeneKITP10721DB04868NilotinibMast/stem cell growth factor receptor Kitsmall moleculeapproved|investigational
HgeneKITP10721DB08901PonatinibMast/stem cell growth factor receptor Kitsmall moleculeapproved|investigational
HgeneKITP10721DB09078LenvatinibMast/stem cell growth factor receptor Kitsmall moleculeapproved|investigational
HgeneKITP10721DB09103AncestimMast/stem cell growth factor receptor Kitbiotechapproved|investigational|withdrawn

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RelatedDiseases for KIT_UGT2B7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKITC0080024Piebaldism7CTD_human;HPO;ORPHANET;UNIPROT
HgeneKITC0238198Gastrointestinal Stromal Tumors4CTD_human;HPO;ORPHANET;UNIPROT
HgeneKITC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneKITC0023487Acute Promyelocytic Leukemia1CTD_human
HgeneKITC0024115Lung diseases1CTD_human
HgeneKITC0027643Neoplasm Recurrence, Local1CTD_human
HgeneKITC0149925Small cell carcinoma of lung1CTD_human
HgeneKITC0221013Mastocytosis, Systemic1CTD_human
HgeneKITC0345967Malignant mesothelioma1CTD_human
HgeneKITC0684337Ewings sarcoma-primitive neuroectodermal tumor (PNET)1CTD_human
HgeneKITC1458155Mammary Neoplasms1CTD_human
TgeneUGT2B7C0005695Bladder Neoplasm1CTD_human