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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: 4584

FusionGeneSummary for BVES_LMTK2

check button Fusion gene summary
Fusion gene informationFusion gene name: BVES_LMTK2
Fusion gene ID: 4584
HgeneTgene
Gene symbol

BVES

LMTK2

Gene ID

11149

22853

Gene nameblood vessel epicardial substancelemur tyrosine kinase 2
SynonymsHBVES|LGMD2X|POP1|POPDC1AATYK2|BREK|KPI-2|KPI2|LMR2|PPP1R100|cprk|hBREK
Cytomap

6q21

7q21.3

Type of geneprotein-codingprotein-coding
Descriptionblood vessel epicardial substancepopeye domain-containing protein 1serine/threonine-protein kinase LMTK2CDK5/p35-regulated kinaseapoptosis-associated tyrosine kinase 2brain-enriched kinasecyclin-dependent kinase 5/p35-regulated kinasekinase/phosphatase/inhibitor 2protein phosphatase 1, regulatory subunit 100serine
Modification date2018052320180523
UniProtAcc

Q8NE79

Q8IWU2

Ensembl transtripts involved in fusion geneENST00000314641, ENST00000336775, 
ENST00000446408, 
ENST00000297293, 
ENST00000493372, 
Fusion gene scores* DoF score2 X 2 X 1=43 X 3 X 2=18
# samples 23
** MAII scorelog2(2/4*10)=2.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BVES [Title/Abstract] AND LMTK2 [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
HgeneBVES

GO:0090136

epithelial cell-cell adhesion

16188940

TgeneLMTK2

GO:0006468

protein phosphorylation

12393858

TgeneLMTK2

GO:0018105

peptidyl-serine phosphorylation

16887929

TgeneLMTK2

GO:0018107

peptidyl-threonine phosphorylation

16887929

TgeneLMTK2

GO:0046777

protein autophosphorylation

12393858


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
ChiTaRS3.1AF124512BVESchr6

105548452

-LMTK2chr7

97819031

+
* 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
intron-intronENST00000314641ENST00000297293BVESchr6

105548452

-LMTK2chr7

97819031

+
intron-intronENST00000314641ENST00000493372BVESchr6

105548452

-LMTK2chr7

97819031

+
intron-intronENST00000336775ENST00000297293BVESchr6

105548452

-LMTK2chr7

97819031

+
intron-intronENST00000336775ENST00000493372BVESchr6

105548452

-LMTK2chr7

97819031

+
intron-intronENST00000446408ENST00000297293BVESchr6

105548452

-LMTK2chr7

97819031

+
intron-intronENST00000446408ENST00000493372BVESchr6

105548452

-LMTK2chr7

97819031

+

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FusionProtFeatures for BVES_LMTK2


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

Q8NE79

LMTK2

Q8IWU2

Cell adhesion molecule involved in the establishmentand/or maintenance of cell integrity. Involved in the formationand regulation of the tight junction (TJ) paracellularpermeability barrier in epithelial cells (PubMed:16188940). Playsa role in VAMP3-mediated vesicular transport and recycling ofdifferent receptor molecules through its interaction with VAMP3.Plays a role in the regulation of cell shape and movement bymodulating the Rho-family GTPase activity through its interactionwith ARHGEF25/GEFT. Induces primordial adhesive contact andaggregation of epithelial cells in a Ca(2+)-independent manner.Also involved in striated muscle regeneration and repair and inthe regulation of cell spreading (By similarity). Important forthe maintenance of cardiac function. Plays a regulatory functionin heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression ofthe potassium channel KCNK2 and enhancing current density(PubMed:26642364). Is also a caveolae-associated protein importantfor the preservation of caveolae structural and functionalintegrity as well as for heart protection against ischemia injury.{ECO:0000250|UniProtKB:Q5PQZ7, ECO:0000250|UniProtKB:Q9ES83,ECO:0000269|PubMed:16188940, ECO:0000269|PubMed:26642364}. Phosphorylates PPP1C, phosphorylase b and CFTR.

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 BVES_LMTK2


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 BVES_LMTK2


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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RelatedDrugs for BVES_LMTK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BVES_LMTK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBVESC4225199MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X1ORPHANET;UNIPROT
TgeneLMTK2C0033578Prostatic Neoplasms1CTD_human