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Fusion gene ID: 21786 |
FusionGeneSummary for MGAT1_FLT4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MGAT1_FLT4 | Fusion gene ID: 21786 | Hgene | Tgene | Gene symbol | MGAT1 | FLT4 | Gene ID | 116255 | 2324 |
Gene name | monoacylglycerol O-acyltransferase 1 | fms related tyrosine kinase 4 | |
Synonyms | DGAT2L|DGAT2L1|MGAT1 | FLT-4|FLT41|LMPH1A|PCL|VEGFR-3|VEGFR3 | |
Cytomap | 2q36.1 | 5q35.3 | |
Type of gene | protein-coding | protein-coding | |
Description | 2-acylglycerol O-acyltransferase 1acyl-CoA:monoacylglycerol acyltransferase 1diacylglycerol O-acyltransferase 2 like 1diacylglycerol O-acyltransferase candidate 2diacylglycerol acyltransferase 2-like protein 1hDC2 | vascular endothelial growth factor receptor 3fms-like tyrosine kinase 4tyrosine-protein kinase receptor FLT4 | |
Modification date | 20180329 | 20180523 | |
UniProtAcc | P26572 | P35916 | |
Ensembl transtripts involved in fusion gene | ENST00000333055, ENST00000307826, ENST00000446023, ENST00000393340, ENST00000427865, ENST00000506708, | ENST00000261937, ENST00000393347, ENST00000502649, ENST00000424276, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 5 X 4 X 3=60 |
# samples | 3 | 5 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MGAT1 [Title/Abstract] AND FLT4 [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 |
Tgene | FLT4 | GO:0018108 | peptidyl-tyrosine phosphorylation | 7898938 |
Tgene | FLT4 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 9435229 |
Tgene | FLT4 | GO:0038084 | vascular endothelial growth factor signaling pathway | 23878260 |
Tgene | FLT4 | GO:0046777 | protein autophosphorylation | 7675451|9435229|23878260 |
Tgene | FLT4 | GO:0048010 | vascular endothelial growth factor receptor signaling pathway | 9012504 |
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 |
TCGA | LD | GBM | TCGA-06-1804-01A | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
* 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 |
5UTR-3CDS | ENST00000333055 | ENST00000261937 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000333055 | ENST00000393347 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000333055 | ENST00000502649 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-5UTR | ENST00000333055 | ENST00000424276 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000307826 | ENST00000261937 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000307826 | ENST00000393347 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000307826 | ENST00000502649 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-5UTR | ENST00000307826 | ENST00000424276 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000446023 | ENST00000261937 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000446023 | ENST00000393347 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000446023 | ENST00000502649 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-5UTR | ENST00000446023 | ENST00000424276 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000393340 | ENST00000261937 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000393340 | ENST00000393347 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-3CDS | ENST00000393340 | ENST00000502649 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
5UTR-5UTR | ENST00000393340 | ENST00000424276 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000427865 | ENST00000261937 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000427865 | ENST00000393347 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000427865 | ENST00000502649 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-5UTR | ENST00000427865 | ENST00000424276 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000506708 | ENST00000261937 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000506708 | ENST00000393347 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-3CDS | ENST00000506708 | ENST00000502649 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
intron-5UTR | ENST00000506708 | ENST00000424276 | MGAT1 | chr5 | 180235648 | - | FLT4 | chr5 | 180058778 | - |
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FusionProtFeatures for MGAT1_FLT4 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MGAT1 | FLT4 |
Initiates complex N-linked carbohydrate formation.Essential for the conversion of high-mannose to hybrid and complexN-glycans. | Tyrosine-protein kinase that acts as a cell-surfacereceptor for VEGFC and VEGFD, and plays an essential role in adultlymphangiogenesis and in the development of the vascular networkand the cardiovascular system during embryonic development.Promotes proliferation, survival and migration of endothelialcells, and regulates angiogenic sprouting. Signaling by activatedFLT4 leads to enhanced production of VEGFC, and to a lesser degreeVEGFA, thereby creating a positive feedback loop that enhancesFLT4 signaling. Modulates KDR signaling by forming heterodimers.The secreted isoform 3 may function as a decoy receptor for VEGFCand/or VEGFD and play an important role as a negative regulator ofVEGFC-mediated lymphangiogenesis and angiogenesis. Binding ofvascular growth factors to isoform 1 or isoform 2 leads to theactivation of several signaling cascades; isoform 2 seems to beless efficient in signal transduction, because it has a truncatedC-terminus and therefore lacks several phosphorylation sites.Mediates activation of the MAPK1/ERK2, MAPK3/ERK1 signalingpathway, of MAPK8 and the JUN signaling pathway, and of the AKT1signaling pathway. Phosphorylates SHC1. Mediates phosphorylationof PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Promotes phosphorylation of MAPK8 at 'Thr-183' and 'Tyr-185', and of AKT1 at 'Ser-473'. {ECO:0000269|PubMed:11532940,ECO:0000269|PubMed:15102829, ECO:0000269|PubMed:15474514,ECO:0000269|PubMed:16076871, ECO:0000269|PubMed:16452200,ECO:0000269|PubMed:17210781, ECO:0000269|PubMed:19610651,ECO:0000269|PubMed:19779139, ECO:0000269|PubMed:20224550,ECO:0000269|PubMed:20431062, ECO:0000269|PubMed:20445537,ECO:0000269|PubMed:21273538, ECO:0000269|PubMed:7675451,ECO:0000269|PubMed:8700872, ECO:0000269|PubMed:9435229}. |
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 MGAT1_FLT4 |
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 MGAT1_FLT4 |
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 |
MGAT1 | MAPK6, SMAD9, NRG1, GINM1, SLC39A4, PTCH1, HTR3C, ADPGK, RELL1, FUT8, TCTN2 | FLT4 | VEGFC, SHC1, GRB2, ITGB1, IKBKG, NEDD4, FIGF, HSP90AA1, EPN1, LGALS3, LGALS8, VSIG4, PTGER3, TNF, LIPH, PLVAP, TMEM52B, MAS1, PCDHGB1, NPY2R, CHRM3, EEF1A2, DUSP19 |
- 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 MGAT1_FLT4 |
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 |
Tgene | FLT4 | P35916 | DB06589 | Pazopanib | Vascular endothelial growth factor receptor 3 | small molecule | approved |
Tgene | FLT4 | P35916 | DB08896 | Regorafenib | Vascular endothelial growth factor receptor 3 | small molecule | approved |
Tgene | FLT4 | P35916 | DB09079 | Nintedanib | Vascular endothelial growth factor receptor 3 | small molecule | approved |
Tgene | FLT4 | P35916 | DB00398 | Sorafenib | Vascular endothelial growth factor receptor 3 | small molecule | approved|investigational |
Tgene | FLT4 | P35916 | DB01268 | Sunitinib | Vascular endothelial growth factor receptor 3 | small molecule | approved|investigational |
Tgene | FLT4 | P35916 | DB06626 | Axitinib | Vascular endothelial growth factor receptor 3 | small molecule | approved|investigational |
Tgene | FLT4 | P35916 | DB09078 | Lenvatinib | Vascular endothelial growth factor receptor 3 | small molecule | approved|investigational |
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RelatedDiseases for MGAT1_FLT4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | FLT4 | C1704423 | Milroy Disease | 10 | ORPHANET;UNIPROT |
Tgene | FLT4 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | FLT4 | C1865871 | HEMANGIOMA, CAPILLARY INFANTILE | 1 | CTD_human;UNIPROT |
Tgene | FLT4 | C2931852 | Clear-cell metastatic renal cell carcinoma | 1 | CTD_human |