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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:MET-KIT (FusionGDB2 ID:52694)

Fusion Gene Summary for MET-KIT

check button Fusion gene summary
Fusion gene informationFusion gene name: MET-KIT
Fusion gene ID: 52694
HgeneTgene
Gene symbol

MET

KIT

Gene ID

8731

3815

Gene nameRNA guanine-7 methyltransferaseKIT proto-oncogene, receptor tyrosine kinase
SynonymsCMT1|CMT1c|MET|Met|RG7MT1|cm1p|hCMT1|hMetC-Kit|CD117|MASTC|PBT|SCFR
Cytomap

18p11.21

4q12

Type of geneprotein-codingprotein-coding
DescriptionmRNA cap guanine-N7 methyltransferaseRNA (guanine-7-) methyltransferasehcm1pmRNA (guanine-7-)methyltransferasemRNA (guanine-N(7)-)-methyltransferasemRNA cap methyltransferasemast/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
Modification date2020032920200313
UniProtAcc.

P21583

Ensembl transtripts involved in fusion geneENST00000397752, ENST00000318493, 
ENST00000436117, ENST00000495962, 
ENST00000539704, 		ENST00000288135, 
Fusion gene scores* DoF score11 X 10 X 9=9904 X 4 X 3=48
# samples 164
** MAII scorelog2(16/990*10)=-2.62935662007961
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MET [Title/Abstract] AND KIT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMET(116388759)-KIT(55599330), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneMET

GO:0006370

7-methylguanosine mRNA capping

27422871

TgeneKIT

GO:0000187

activation of MAPK activity

21640708

TgeneKIT

GO:0002551

mast cell chemotaxis

20100931

TgeneKIT

GO:0018108

peptidyl-tyrosine phosphorylation

21640708

TgeneKIT

GO:0019221

cytokine-mediated signaling pathway

21640708

TgeneKIT

GO:0031532

actin cytoskeleton reorganization

1721869

TgeneKIT

GO:0032762

mast cell cytokine production

20100931

TgeneKIT

GO:0038093

Fc receptor signaling pathway

20100931

TgeneKIT

GO:0038109

Kit signaling pathway

17662946

TgeneKIT

GO:0046777

protein autophosphorylation

21640708

TgeneKIT

GO:0060326

cell chemotaxis

1721869

TgeneKIT

GO:1905065

positive regulation of vascular smooth muscle cell differentiation

19088079


check buttonFusion gene breakpoints across MET (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KIT (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AKR020729METchr7

116388759

-KITchr4

55599330

-


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Fusion Gene ORF analysis for MET-KIT

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
intron-3CDSENST00000397752ENST00000288135METchr7

116388759

-KITchr4

55599330

-
intron-3CDSENST00000318493ENST00000288135METchr7

116388759

-KITchr4

55599330

-
intron-3CDSENST00000436117ENST00000288135METchr7

116388759

-KITchr4

55599330

-
intron-3CDSENST00000495962ENST00000288135METchr7

116388759

-KITchr4

55599330

-
intron-3CDSENST00000539704ENST00000288135METchr7

116388759

-KITchr4

55599330

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for MET-KIT


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MET-KIT


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P21583

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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.

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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Fusion Gene Sequence for MET-KIT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for MET-KIT


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


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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Related Drugs for MET-KIT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for MET-KIT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMETC1306837Papillary Renal Cell Carcinoma9CGI;CLINGEN;CTD_human;ORPHANET
HgeneMETC1336078Papillary renal cell carcinoma, sporadic7CLINGEN
HgeneMETC1336839Type 1 Papillary Renal Cell Carcinoma5UNIPROT
HgeneMETC0007131Non-Small Cell Lung Carcinoma4CGI;CTD_human
HgeneMETC1836723Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum4ORPHANET
HgeneMETC4085248OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO4ORPHANET
HgeneMETC0001418Adenocarcinoma2CTD_human
HgeneMETC0004352Autistic Disorder2CTD_human
HgeneMETC0024623Malignant neoplasm of stomach2CGI;CTD_human;UNIPROT
HgeneMETC0027627Neoplasm Metastasis2CTD_human
HgeneMETC0038356Stomach Neoplasms2CGI;CTD_human
HgeneMETC0205641Adenocarcinoma, Basal Cell2CTD_human
HgeneMETC0205642Adenocarcinoma, Oxyphilic2CTD_human
HgeneMETC0205643Carcinoma, Cribriform2CTD_human
HgeneMETC0205644Carcinoma, Granular Cell2CTD_human
HgeneMETC0205645Adenocarcinoma, Tubular2CTD_human
HgeneMETC1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgeneMETC0004114Astrocytoma1CTD_human
HgeneMETC0007097Carcinoma1CTD_human
HgeneMETC0007134Renal Cell Carcinoma1CTD_human
HgeneMETC0007137Squamous cell carcinoma1CTD_human
HgeneMETC0009241Cognition Disorders1CTD_human
HgeneMETC0014859Esophageal Neoplasms1CTD_human
HgeneMETC0017636Glioblastoma1CTD_human
HgeneMETC0019189Hepatitis, Chronic1CTD_human
HgeneMETC0019207Hepatoma, Morris1CTD_human
HgeneMETC0019208Hepatoma, Novikoff1CTD_human
HgeneMETC0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneMETC0023904Liver Neoplasms, Experimental1CTD_human
HgeneMETC0024121Lung Neoplasms1CTD_human
HgeneMETC0024232Lymphatic Metastasis1CTD_human
HgeneMETC0025202melanoma1CTD_human
HgeneMETC0026998Acute Myeloid Leukemia, M11CTD_human
HgeneMETC0027626Neoplasm Invasiveness1CTD_human
HgeneMETC0027819Neuroblastoma1CTD_human
HgeneMETC0029463Osteosarcoma1CTD_human
HgeneMETC0033578Prostatic Neoplasms1CTD_human
HgeneMETC0036341Schizophrenia1CTD_human
HgeneMETC0037199Sinusitis1CTD_human
HgeneMETC0086404Experimental Hepatoma1CTD_human
HgeneMETC0149519Chronic Persistent Hepatitis1CTD_human
HgeneMETC0205696Anaplastic carcinoma1CTD_human
HgeneMETC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneMETC0205698Undifferentiated carcinoma1CTD_human
HgeneMETC0205699Carcinomatosis1CTD_human
HgeneMETC0205768Subependymal Giant Cell Astrocytoma1CTD_human
HgeneMETC0242379Malignant neoplasm of lung1CTD_human
HgeneMETC0279606Childhood Hepatocellular Carcinoma1ORPHANET
HgeneMETC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CGI;CTD_human
HgeneMETC0280783Juvenile Pilocytic Astrocytoma1CTD_human
HgeneMETC0280785Diffuse Astrocytoma1CTD_human
HgeneMETC0334579Anaplastic astrocytoma1CTD_human
HgeneMETC0334580Protoplasmic astrocytoma1CTD_human
HgeneMETC0334581Gemistocytic astrocytoma1CTD_human
HgeneMETC0334582Fibrillary Astrocytoma1CTD_human
HgeneMETC0334583Pilocytic Astrocytoma1CTD_human
HgeneMETC0334588Giant Cell Glioblastoma1CTD_human
HgeneMETC0338070Childhood Cerebral Astrocytoma1CTD_human
HgeneMETC0345967Malignant mesothelioma1CTD_human
HgeneMETC0376358Malignant neoplasm of prostate1CTD_human
HgeneMETC0520463Chronic active hepatitis1CTD_human
HgeneMETC0524611Cryptogenic Chronic Hepatitis1CTD_human
HgeneMETC0546837Malignant neoplasm of esophagus1CTD_human
HgeneMETC0547065Mixed oligoastrocytoma1CTD_human
HgeneMETC0750935Cerebral Astrocytoma1CTD_human
HgeneMETC0750936Intracranial Astrocytoma1CTD_human
HgeneMETC0919267ovarian neoplasm1CTD_human
HgeneMETC1140680Malignant neoplasm of ovary1CTD_human
HgeneMETC1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneMETC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneMETC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneMETC1621958Glioblastoma Multiforme1CTD_human
HgeneMETC1704230Grade I Astrocytoma1CTD_human
HgeneMETC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome1CLINGEN
HgeneMETC1876165Copper-Overload Cirrhosis1CTD_human
HgeneMETC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneMETC2239176Liver carcinoma1CGI;CTD_human;UNIPROT
HgeneMETC3711374Nonsyndromic Deafness1CLINGEN
HgeneMETC4084709DEAFNESS, AUTOSOMAL RECESSIVE 971CTD_human;UNIPROT
TgeneKITC0238198Gastrointestinal Stromal Tumors19CGI;CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneKITC3179349Gastrointestinal Stromal Sarcoma17CLINGEN;CTD_human;ORPHANET
TgeneKITC0080024Piebaldism11CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneKITC1136033Cutaneous Mastocytosis6GENOMICS_ENGLAND;UNIPROT
TgeneKITC0023479Acute myelomonocytic leukemia2ORPHANET
TgeneKITC0024899Mastocytosis2CGI;CTD_human;GENOMICS_ENGLAND
TgeneKITC0343115Skin Mastocytoma2ORPHANET
TgeneKITC1879321Acute Myeloid Leukemia (AML-M2)2CTD_human;ORPHANET
TgeneKITC0006142Malignant neoplasm of breast1CTD_human
TgeneKITC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneKITC0023487Acute Promyelocytic Leukemia1CTD_human
TgeneKITC0024115Lung diseases1CTD_human
TgeneKITC0027643Neoplasm Recurrence, Local1CTD_human
TgeneKITC0036631Seminoma1ORPHANET
TgeneKITC0149925Small cell carcinoma of lung1CTD_human
TgeneKITC0221013Mastocytosis, Systemic1CGI;CTD_human
TgeneKITC0272203Indolent Systemic Mastocytosis1CTD_human
TgeneKITC0345967Malignant mesothelioma1CTD_human
TgeneKITC0678222Breast Carcinoma1CTD_human
TgeneKITC0684337Ewings sarcoma-primitive neuroectodermal tumor (PNET)1CTD_human
TgeneKITC1112486Aggressive Systemic Mastocytosis1CTD_human
TgeneKITC1257931Mammary Neoplasms, Human1CTD_human
TgeneKITC1458155Mammary Neoplasms1CTD_human
TgeneKITC4704874Mammary Carcinoma, Human1CTD_human