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Fusion gene ID: 4584 |
FusionGeneSummary for BVES_LMTK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BVES_LMTK2 | Fusion gene ID: 4584 | Hgene | Tgene | Gene symbol | BVES | LMTK2 | Gene ID | 11149 | 22853 |
| Gene name | blood vessel epicardial substance | lemur tyrosine kinase 2 | |
| Synonyms | HBVES|LGMD2X|POP1|POPDC1 | AATYK2|BREK|KPI-2|KPI2|LMR2|PPP1R100|cprk|hBREK | |
| Cytomap | 6q21 | 7q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | blood vessel epicardial substancepopeye domain-containing protein 1 | serine/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 date | 20180523 | 20180523 | |
| UniProtAcc | Q8NE79 | Q8IWU2 | |
| Ensembl transtripts involved in fusion gene | ENST00000314641, ENST00000336775, ENST00000446408, | ENST00000297293, ENST00000493372, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 3 X 3 X 2=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | BVES | GO:0090136 | epithelial cell-cell adhesion | 16188940 |
| Tgene | LMTK2 | GO:0006468 | protein phosphorylation | 12393858 |
| Tgene | LMTK2 | GO:0018105 | peptidyl-serine phosphorylation | 16887929 |
| Tgene | LMTK2 | GO:0018107 | peptidyl-threonine phosphorylation | 16887929 |
| Tgene | LMTK2 | GO:0046777 | protein autophosphorylation | 12393858 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AF124512 | BVES | chr6 | 105548452 | - | LMTK2 | chr7 | 97819031 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000314641 | ENST00000297293 | BVES | chr6 | 105548452 | - | LMTK2 | chr7 | 97819031 | + |
| intron-intron | ENST00000314641 | ENST00000493372 | BVES | chr6 | 105548452 | - | LMTK2 | chr7 | 97819031 | + |
| intron-intron | ENST00000336775 | ENST00000297293 | BVES | chr6 | 105548452 | - | LMTK2 | chr7 | 97819031 | + |
| intron-intron | ENST00000336775 | ENST00000493372 | BVES | chr6 | 105548452 | - | LMTK2 | chr7 | 97819031 | + |
| intron-intron | ENST00000446408 | ENST00000297293 | BVES | chr6 | 105548452 | - | LMTK2 | chr7 | 97819031 | + |
| intron-intron | ENST00000446408 | ENST00000493372 | BVES | chr6 | 105548452 | - | LMTK2 | chr7 | 97819031 | + |
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FusionProtFeatures for BVES_LMTK2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BVES | LMTK2 |
| 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. |
| Retention 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 . * 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 BVES_LMTK2 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BVES_LMTK2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BVES_LMTK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BVES | C4225199 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X | 1 | ORPHANET;UNIPROT |
| Tgene | LMTK2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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