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Fusion gene ID: 18957 |
FusionGeneSummary for KIT_MAATS1 |
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Fusion gene information | Fusion gene name: KIT_MAATS1 | Fusion gene ID: 18957 | Hgene | Tgene | Gene symbol | KIT | MAATS1 | Gene ID | 3815 | 89876 |
Gene name | KIT proto-oncogene receptor tyrosine kinase | MYCBP associated and testis expressed 1 | |
Synonyms | C-Kit|CD117|PBT|SCFR | AAT1|AAT1alpha|C3orf15|CFAP91|CaM-IP2|SPATA26 | |
Cytomap | 4q12 | 3q13.33 | |
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 | cilia- and flagella-associated protein 91AAT-1AAT1-alphaAMY-1-associating protein expressed in testis 1MYCBP-associated, testis expressed 1MYCBP-binding proteinMYCBP/AMY-1-associated testis-expressed protein 1MYCBP/AMY-1-associated, testis expresse | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P10721 | Q7Z4T9 | |
Ensembl transtripts involved in fusion gene | ENST00000288135, | ENST00000273390, ENST00000463700, ENST00000472117, | |
Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 3 X 3 X 3=27 |
# samples | 6 | 3 | |
** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: KIT [Title/Abstract] AND MAATS1 [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 |
![]() (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 | DN993363 | KIT | chr4 | 55564731 | + | MAATS1 | chr3 | 119467986 | + |
* 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-intron | ENST00000288135 | ENST00000273390 | KIT | chr4 | 55564731 | + | MAATS1 | chr3 | 119467986 | + |
5CDS-intron | ENST00000288135 | ENST00000463700 | KIT | chr4 | 55564731 | + | MAATS1 | chr3 | 119467986 | + |
5CDS-intron | ENST00000288135 | ENST00000472117 | KIT | chr4 | 55564731 | + | MAATS1 | chr3 | 119467986 | + |
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FusionProtFeatures for KIT_MAATS1 |
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Hgene | Tgene |
KIT | MAATS1 |
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}. |
![]() * 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_MAATS1 |
![]() (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_MAATS1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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_MAATS1 |
![]() (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_MAATS1 |
![]() (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 |