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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: 21727

FusionGeneSummary for MET_CAV1

check button Fusion gene summary
Fusion gene informationFusion gene name: MET_CAV1
Fusion gene ID: 21727
HgeneTgene
Gene symbol

MET

CAV1

Gene ID

8731

857

Gene nameRNA guanine-7 methyltransferasecaveolin 1
SynonymsCMT1|CMT1c|MET|Met|RG7MT1|cm1p|hCMT1|hMetBSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21
Cytomap

18p11.21

7q31.2

Type of geneprotein-codingprotein-coding
DescriptionmRNA cap guanine-N7 methyltransferaseRNA (guanine-7-) methyltransferasehcm1pmRNA (guanine-7-)methyltransferasemRNA (guanine-N(7)-)-methyltransferasemRNA cap methyltransferasecaveolin-1caveolin 1, caveolae protein, 22kDacell growth-inhibiting protein 32
Modification date2018052320180527
UniProtAcc

P08581

Q03135

Ensembl transtripts involved in fusion geneENST00000397752, ENST00000318493, 
ENST00000436117, ENST00000495962, 
ENST00000539704, 		ENST00000341049, 
ENST00000393470, ENST00000405348, 
ENST00000393468, ENST00000393467, 
Fusion gene scores* DoF score8 X 7 X 8=4486 X 4 X 6=144
# samples 108
** MAII scorelog2(10/448*10)=-2.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MET [Title/Abstract] AND CAV1 [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
HgeneMET

GO:0006370

7-methylguanosine mRNA capping

27422871

TgeneCAV1

GO:0009617

response to bacterium

24625804

TgeneCAV1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

25893292

TgeneCAV1

GO:0031295

T cell costimulation

17287217

TgeneCAV1

GO:0031623

receptor internalization

25893292

TgeneCAV1

GO:0032091

negative regulation of protein binding

16890161

TgeneCAV1

GO:0032570

response to progesterone

12388746

TgeneCAV1

GO:0033137

negative regulation of peptidyl-serine phosphorylation

18081315

TgeneCAV1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

18081315

TgeneCAV1

GO:0043627

response to estrogen

12388746

TgeneCAV1

GO:0051480

regulation of cytosolic calcium ion concentration

19052258

TgeneCAV1

GO:0072584

caveolin-mediated endocytosis

19931615

TgeneCAV1

GO:1900027

regulation of ruffle assembly

24625804

TgeneCAV1

GO:2000535

regulation of entry of bacterium into host cell

24625804


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
TCGARVBRCATCGA-B6-A0I6-01AMETchr7

116312631

+CAV1chr7

116199000

+
TCGARVSTADTCGA-BR-7716-01AMETchr7

116340338

+CAV1chr7

116199000

+
TCGARVUCECTCGA-B5-A0JN-01AMETchr7

116381079

+CAV1chr7

116199000

+
* 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
5UTR-3CDSENST00000397752ENST00000341049METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000397752ENST00000393470METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000397752ENST00000405348METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000397752ENST00000393468METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000397752ENST00000393467METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000318493ENST00000341049METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000318493ENST00000393470METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000318493ENST00000405348METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000318493ENST00000393468METchr7

116312631

+CAV1chr7

116199000

+
5UTR-3CDSENST00000318493ENST00000393467METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000436117ENST00000341049METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000436117ENST00000393470METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000436117ENST00000405348METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000436117ENST00000393468METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000436117ENST00000393467METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000341049METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000393470METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000405348METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000393468METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000393467METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000341049METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393470METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000405348METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393468METchr7

116312631

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393467METchr7

116312631

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000341049METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000393470METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000405348METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000393468METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000393467METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000341049METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000393470METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000405348METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000393468METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000393467METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000341049METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000393470METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000405348METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000393468METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000393467METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000341049METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000393470METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000405348METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000393468METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000495962ENST00000393467METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000341049METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393470METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000405348METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393468METchr7

116340338

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393467METchr7

116340338

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000341049METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000393470METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000405348METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000393468METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000397752ENST00000393467METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000341049METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000393470METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000405348METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000393468METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000318493ENST00000393467METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000341049METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000393470METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000405348METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000393468METchr7

116381079

+CAV1chr7

116199000

+
Frame-shiftENST00000436117ENST00000393467METchr7

116381079

+CAV1chr7

116199000

+
3UTR-3CDSENST00000495962ENST00000341049METchr7

116381079

+CAV1chr7

116199000

+
3UTR-3CDSENST00000495962ENST00000393470METchr7

116381079

+CAV1chr7

116199000

+
3UTR-3CDSENST00000495962ENST00000405348METchr7

116381079

+CAV1chr7

116199000

+
3UTR-3CDSENST00000495962ENST00000393468METchr7

116381079

+CAV1chr7

116199000

+
3UTR-3CDSENST00000495962ENST00000393467METchr7

116381079

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000341049METchr7

116381079

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393470METchr7

116381079

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000405348METchr7

116381079

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393468METchr7

116381079

+CAV1chr7

116199000

+
intron-3CDSENST00000539704ENST00000393467METchr7

116381079

+CAV1chr7

116199000

+

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FusionProtFeatures for MET_CAV1


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

P08581

CAV1

Q03135

Receptor tyrosine kinase that transduces signals fromthe extracellular matrix into the cytoplasm by binding tohepatocyte growth factor/HGF ligand. Regulates many physiologicalprocesses including proliferation, scattering, morphogenesis andsurvival. Ligand binding at the cell surface inducesautophosphorylation of MET on its intracellular domain thatprovides docking sites for downstream signaling molecules.Following activation by ligand, interacts with the PI3-kinasesubunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1.Recruitment of these downstream effectors by MET leads to theactivation of several signaling cascades including the RAS-ERK,PI3 kinase-AKT, or PLCgamma-PKC. The RAS-ERK activation isassociated with the morphogenetic effects while PI3K/AKTcoordinates prosurvival effects. During embryonic development, METsignaling plays a role in gastrulation, development and migrationof muscles and neuronal precursors, angiogenesis and kidneyformation. In adults, participates in wound healing as well asorgan regeneration and tissue remodeling. Promotes alsodifferentiation and proliferation of hematopoietic cells. Mayregulate cortical bone osteogenesis (By similarity).{ECO:0000250|UniProtKB:P16056}. Acts as a receptor for Listeria internalin inlB,mediating entry of the pathogen into cells. May act as a scaffolding protein within caveolarmembranes. Interacts directly with G-protein alpha subunits andcan functionally regulate their activity (By similarity). Involvedin the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cellproliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and mayregulate CTNNB1-mediated signaling through the Wnt pathway.Negatively regulates TGFB1-mediated activation of SMAD2/3 bymediating the internalization of TGFBR1 from membrane raftsleading to its subsequent degradation (PubMed:25893292). Mediatesthe recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae(PubMed:19262564). {ECO:0000250|UniProtKB:P49817,ECO:0000269|PubMed:11751885, ECO:0000269|PubMed:17287217,ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25893292}.

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 MET_CAV1


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 MET_CAV1


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
METGLMN, CDH1, CTNNB1, HGF, RANBP9, GRB2, CBL, SH3KBP1, RANBP10, SRC, SHC1, SOS1, STAT3, GAB1, GAB2, LRIG1, INPPL1, DCN, SPSB1, SPSB2, SPSB3, SPSB4, CBLC, STUB1, HSPA4, HSP90AA1, GGA3, GNG12, FBXO6, HGS, CRK, CEACAM21, LGALS9, PCBP1, CASP3, SOCS1, HSP90AB1, EGFR, ERBB3, MET, CHEK1, PTEN, SCGB1D1CAV1AR, SCP2, PLD2, AQP3, EDNRB, NOS3, CAV2, NOS2, BTK, BMX, GRK5, GRK1, ADRBK1, TRAF2, TRADD, TNFRSF1B, TRPC1, NTRK1, NGFR, NEU3, TSC2, DAG1, APP, INSR, PRKACA, PTPN1, PTPN6, PTPN11, PTEN, PTPRF, S1PR1, FLOT1, FLOT2, ESR1, PTGS2, PDGFRB, PDGFRA, RCVRN, CSK, EGFR, SRC, TGFBR1, SMAD2, GJA1, GJB2, GJB1, TNFRSF1A, TNF, NKD2, RAC1, RHOA, RHOC, MAPK3, MAPK1, PLAA, PDIA3, CD44, CXCR4, ITCH, TOLLIP, IRAK1, FYN, KCNA3, KCNA5, PPP1CA, PPP2R1A, PPP2R1B, PPP2CA, PPP2R4, SNCA, PTRF, ACIN1, VDAC1, SQSTM1, VCP, UBXN6, KCNN3, MCL1, ITPR3, PTCH1, TENC1, DLC1, ID1, MLC1, NF1, MALL, KCNMA1, BMPR2, BMPR1A, AXIN1, LRP6, FAS, BID, HSP90AA1, ACTB, F2R, PROCR, GLIPR2, KDR, ATP4A, DERL1, VIMP, UFD1L, PTGS1, PTGIS, RPA3, RPA2, RPA1, ATG5, ATG12, ABCC1, TFRC, MOV10, NXF1, PPARG, LATS1, VAV2, KRT8, PLCG1, CTNNB1, HDAC6, AGTR1, LPAR6, P2RY12, FNDC4, FAF2, FAP, TMEM17, TMEM216, CLTC, DBN1, RAB2A, RAB5C, RAB7A, DYNLL1, VAPA, FGFR1OP2, GOLT1B, LIMA1, TMEM63B, YIPF5, MMGT1, MBOAT1, ANKRD13A, ADCY6, ADCY5, TLR4, YIPF3, SMPD3, SLC22A9, CAV3, TACR1, HK1, LPAR4, SLC5A8, CHRM3, SLC37A3, HTR2C, TMEM184A, SLC6A15, NR3C2, UBC, MAP1LC3A


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 MET_CAV1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMETP08581DB08865CrizotinibHepatocyte growth factor receptorsmall moleculeapproved
HgeneMETP08581DB08875CabozantinibHepatocyte growth factor receptorsmall moleculeapproved|investigational

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RelatedDiseases for MET_CAV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMETC1336839Type 1 Papillary Renal Cell Carcinoma5UNIPROT
HgeneMETC0007131Non-Small Cell Lung Carcinoma4CTD_human
HgeneMETC0001418Adenocarcinoma2CTD_human
HgeneMETC0004352Autistic Disorder2CTD_human
HgeneMETC0027627Neoplasm Metastasis2CTD_human
HgeneMETC0038356Stomach Neoplasms2CTD_human
HgeneMETC0004114Astrocytoma1CTD_human
HgeneMETC0007134Renal Cell Carcinoma1CTD_human
HgeneMETC0007137Squamous cell carcinoma1CTD_human
HgeneMETC0009241Cognition Disorders1CTD_human
HgeneMETC0014859Esophageal Neoplasms1CTD_human
HgeneMETC0017636Glioblastoma1CTD_human
HgeneMETC0019189Hepatitis, Chronic1CTD_human
HgeneMETC0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneMETC0023904Liver Neoplasms, Experimental1CTD_human
HgeneMETC0024121Lung Neoplasms1CTD_human
HgeneMETC0027626Neoplasm Invasiveness1CTD_human
HgeneMETC0027819Neuroblastoma1CTD_human
HgeneMETC0029463Osteosarcoma1CTD_human
HgeneMETC0036341Schizophrenia1CTD_human
HgeneMETC0037199Sinusitis1CTD_human
HgeneMETC0345967Malignant mesothelioma1CTD_human
HgeneMETC0919267ovarian neoplasm1CTD_human
HgeneMETC1876165Copper-Overload Cirrhosis1CTD_human
HgeneMETC2239176Liver carcinoma1CTD_human;HPO;UNIPROT
HgeneMETC4084709DEAFNESS, AUTOSOMAL RECESSIVE 971UNIPROT
TgeneCAV1C1458155Mammary Neoplasms4CTD_human
TgeneCAV1C0004238Atrial Fibrillation2CTD_human
TgeneCAV1C0033578Prostatic Neoplasms2CTD_human
TgeneCAV1C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneCAV1C0017612Glaucoma, Open-Angle1CTD_human
TgeneCAV1C0018800Cardiomegaly1CTD_human
TgeneCAV1C0020538Hypertensive disease1CTD_human
TgeneCAV1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCAV1C0027627Neoplasm Metastasis1CTD_human
TgeneCAV1C0036341Schizophrenia1PSYGENET
TgeneCAV1C0038325Stevens-Johnson Syndrome1CTD_human
TgeneCAV1C0038356Stomach Neoplasms1CTD_human
TgeneCAV1C0043094Weight Gain1CTD_human
TgeneCAV1C0271694Familial partial lipodystrophy1CTD_human
TgeneCAV1C0919267ovarian neoplasm1CTD_human