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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:MGAT4A-EPM2A (FusionGDB2 ID:HG11320TG7957) |
Fusion Gene Summary for MGAT4A-EPM2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MGAT4A-EPM2A | Fusion gene ID: hg11320tg7957 | Hgene | Tgene | Gene symbol | MGAT4A | EPM2A | Gene ID | 11320 | 7957 |
| Gene name | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | EPM2A glucan phosphatase, laforin | |
| Synonyms | GNT-IV|GNT-IVA|GnT-4a | EPM2|MELF | |
| Cytomap | ('MGAT4A')('EPM2A') 2q11.2 | 6q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase AN-acetylglucosaminyltransferase IVaN-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVaUDP-GlcNAc:a-1,3-D-mannoside b-1,4-acetylglucosaminyltransferase IVUD | laforinEPM2A, laforin glucan phosphataseLAFPTPaseepilepsy, progressive myoclonus type 2, Lafora disease (laforin)epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)glucan phosphataseglycogen phosphataselafora PTPase | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9UM21 | O95278 | |
| Ensembl transtripts involved in fusion gene | ENST00000264968, ENST00000393487, ENST00000409391, ENST00000414521, ENST00000461884, ENST00000495056, | ||
| Fusion gene scores | * DoF score | 6 X 6 X 7=252 | 4 X 3 X 3=36 |
| # samples | 8 | 4 | |
| ** MAII score | log2(8/252*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MGAT4A [Title/Abstract] AND EPM2A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MGAT4A(99235613)-EPM2A(145749233), # 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) |
| 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 |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | BI496934 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
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Fusion Gene ORF analysis for MGAT4A-EPM2A |
| 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 | ENST00000264968 | ENST00000367519 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000264968 | ENST00000496228 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000393487 | ENST00000367519 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000393487 | ENST00000496228 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000409391 | ENST00000367519 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000409391 | ENST00000496228 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000414521 | ENST00000367519 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000414521 | ENST00000496228 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000461884 | ENST00000367519 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000461884 | ENST00000496228 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000495056 | ENST00000367519 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| intron-intron | ENST00000495056 | ENST00000496228 | MGAT4A | chr2 | 99235613 | - | EPM2A | chr6 | 145749233 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MGAT4A-EPM2A |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for MGAT4A-EPM2A |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:99235613/:145749233) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MGAT4A | EPM2A |
| FUNCTION: Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells. | FUNCTION: Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). Has been shown to dephosphorylate MAPT (By similarity). Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin (PubMed:23922729). Also promotes proteasome-independent protein degradation through the macroautophagy pathway (PubMed:20453062). {ECO:0000250|UniProtKB:Q9WUA5, ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11220751, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:14532330, ECO:0000269|PubMed:14722920, ECO:0000269|PubMed:16901901, ECO:0000269|PubMed:16971387, ECO:0000269|PubMed:18070875, ECO:0000269|PubMed:18617530, ECO:0000269|PubMed:19036738, ECO:0000269|PubMed:20453062, ECO:0000269|PubMed:22036712, ECO:0000269|PubMed:23624058, ECO:0000269|PubMed:23922729, ECO:0000269|PubMed:25538239, ECO:0000269|PubMed:25544560, ECO:0000269|PubMed:26231210}.; FUNCTION: [Isoform 2]: does not bind to glycogen (PubMed:18617530). Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7 (PubMed:18617530, PubMed:22036712). {ECO:0000269|PubMed:18617530, ECO:0000269|PubMed:22036712}.; FUNCTION: [Isoform 7]: has phosphatase activity (in vitro). {ECO:0000269|PubMed:22036712}. |
| 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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Fusion Gene Sequence for MGAT4A-EPM2A |
| 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 MGAT4A-EPM2A |
| 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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Related Drugs for MGAT4A-EPM2A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MGAT4A-EPM2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C0751783 | Lafora Disease | 19 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C0751776 | Atypical Inclusion-Body Disease | 1 | CTD_human | |
| Tgene | C0751777 | Familial Progressive Myoclonic Epilepsy | 1 | CTD_human | |
| Tgene | C0751778 | Myoclonic Epilepsies, Progressive | 1 | CTD_human | |
| Tgene | C0751779 | Action Myoclonus-Renal Failure Syndrome | 1 | CTD_human | |
| Tgene | C0751780 | Biotin-Responsive Encephalopathy | 1 | CTD_human | |
| Tgene | C0751781 | Dentatorubral-Pallidoluysian Atrophy | 1 | CTD_human | |
| Tgene | C0751782 | May-White Syndrome | 1 | CTD_human |
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