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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MGAT5 |
 Gene summary |
| Gene information | Gene symbol | MGAT5 | Gene ID | 4249 |
| Gene name | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | |
| Synonyms | GNT-V|GNT-VA|MGAT5A|glcNAc-T V | |
| Cytomap | 2q21.2-q21.3 | |
| Type of gene | protein-coding | |
| Description | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase AN-acetylglucosaminyl-transferase Valpha-mannoside beta-1,6-N-acetylglucosaminyltransferasealpha-mannoside beta-1,6-N-acetylglucosaminyltransferase Vmannoside acetylglucosaminyltran | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MGAT5 | GO:0006487 | protein N-linked glycosylation | 24846175 |
| MGAT5 | GO:0018279 | protein N-linked glycosylation via asparagine | 10395745|30140003 |
| MGAT5 | GO:0030335 | positive regulation of cell migration | 24846175 |
| MGAT5 | GO:1903614 | negative regulation of protein tyrosine phosphatase activity | 24846175 |
| MGAT5 | GO:1904894 | positive regulation of STAT cascade | 24846175 |
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Gene structures and expression levels for MGAT5 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000152127
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MGAT5 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_107444 | chr2 | 134349805:134349938:134362275:134362408:134402988:134403137 | 134362275:134362408 |
| exon_skip_115066 | chr2 | 134412869:134413015:134422803:134422919:134428365:134428439 | 134422803:134422919 |
| exon_skip_16931 | chr2 | 134318650:134318739:134336217:134336288:134338259:134338420 | 134336217:134336288 |
| exon_skip_289463 | chr2 | 134254262:134254644:134270386:134270550:134317529:134317605 | 134270386:134270550 |
| exon_skip_97071 | chr2 | 134338259:134338420:134341590:134341759:134344930:134345064 | 134341590:134341759 |
| exon_skip_9719 | chr2 | 134422803:134422919:134428365:134428439:134441758:134441915 | 134428365:134428439 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MGAT5 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000281923 | 134341590 | 134341759 | Frame-shift |
| ENST00000409645 | 134341590 | 134341759 | Frame-shift |
| ENST00000281923 | 134362275 | 134362408 | Frame-shift |
| ENST00000409645 | 134362275 | 134362408 | Frame-shift |
| ENST00000281923 | 134270386 | 134270550 | In-frame |
| ENST00000409645 | 134270386 | 134270550 | In-frame |
| ENST00000281923 | 134336217 | 134336288 | In-frame |
| ENST00000409645 | 134336217 | 134336288 | In-frame |
| ENST00000281923 | 134422803 | 134422919 | In-frame |
| ENST00000409645 | 134422803 | 134422919 | In-frame |
| ENST00000281923 | 134428365 | 134428439 | In-frame |
| ENST00000409645 | 134428365 | 134428439 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000281923 | 134362275 | 134362408 | Frame-shift |
| ENST00000409645 | 134362275 | 134362408 | Frame-shift |
| ENST00000281923 | 134270386 | 134270550 | In-frame |
| ENST00000409645 | 134270386 | 134270550 | In-frame |
| ENST00000281923 | 134336217 | 134336288 | In-frame |
| ENST00000409645 | 134336217 | 134336288 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000281923 | 134341590 | 134341759 | Frame-shift |
| ENST00000409645 | 134341590 | 134341759 | Frame-shift |
| ENST00000281923 | 134362275 | 134362408 | Frame-shift |
| ENST00000409645 | 134362275 | 134362408 | Frame-shift |
| ENST00000281923 | 134270386 | 134270550 | In-frame |
| ENST00000409645 | 134270386 | 134270550 | In-frame |
| ENST00000281923 | 134336217 | 134336288 | In-frame |
| ENST00000409645 | 134336217 | 134336288 | In-frame |
| ENST00000281923 | 134428365 | 134428439 | In-frame |
| ENST00000409645 | 134428365 | 134428439 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MGAT5 |
p-ENSG00000152127_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000281923 | 8161 | 741 | 134270386 | 134270550 | 388 | 551 | 81 | 135 |
| ENST00000409645 | 8269 | 741 | 134270386 | 134270550 | 495 | 658 | 81 | 135 |
| ENST00000281923 | 8161 | 741 | 134336217 | 134336288 | 720 | 790 | 191 | 215 |
| ENST00000409645 | 8269 | 741 | 134336217 | 134336288 | 827 | 897 | 191 | 215 |
| ENST00000281923 | 8161 | 741 | 134422803 | 134422919 | 1824 | 1939 | 559 | 598 |
| ENST00000409645 | 8269 | 741 | 134422803 | 134422919 | 1931 | 2046 | 559 | 598 |
| ENST00000281923 | 8161 | 741 | 134428365 | 134428439 | 1941 | 2014 | 598 | 623 |
| ENST00000409645 | 8269 | 741 | 134428365 | 134428439 | 2048 | 2121 | 598 | 623 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000281923 | 8161 | 741 | 134270386 | 134270550 | 388 | 551 | 81 | 135 |
| ENST00000409645 | 8269 | 741 | 134270386 | 134270550 | 495 | 658 | 81 | 135 |
| ENST00000281923 | 8161 | 741 | 134336217 | 134336288 | 720 | 790 | 191 | 215 |
| ENST00000409645 | 8269 | 741 | 134336217 | 134336288 | 827 | 897 | 191 | 215 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000281923 | 8161 | 741 | 134270386 | 134270550 | 388 | 551 | 81 | 135 |
| ENST00000409645 | 8269 | 741 | 134270386 | 134270550 | 495 | 658 | 81 | 135 |
| ENST00000281923 | 8161 | 741 | 134336217 | 134336288 | 720 | 790 | 191 | 215 |
| ENST00000409645 | 8269 | 741 | 134336217 | 134336288 | 827 | 897 | 191 | 215 |
| ENST00000281923 | 8161 | 741 | 134428365 | 134428439 | 1941 | 2014 | 598 | 623 |
| ENST00000409645 | 8269 | 741 | 134428365 | 134428439 | 2048 | 2121 | 598 | 623 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q09328 | 81 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 81 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 81 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 191 | 215 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 191 | 215 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 191 | 215 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 191 | 215 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 559 | 598 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 559 | 598 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 559 | 598 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 559 | 598 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 598 | 623 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 598 | 623 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 598 | 623 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 598 | 623 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q09328 | 81 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 81 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 81 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 191 | 215 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 191 | 215 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 191 | 215 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 191 | 215 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q09328 | 81 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 81 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 81 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 81 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 191 | 215 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 191 | 215 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 191 | 215 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 191 | 215 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 598 | 623 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 598 | 623 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 598 | 623 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 598 | 623 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MGAT5 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MGAT5 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MGAT5 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MGAT5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MGAT5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_16931 | 5.214526e-01 | 7.559215e-11 |
| CB | TRA2A | exon_skip_16931 | -5.640502e-01 | 8.643762e-13 |
| CB | NUP42 | exon_skip_16931 | 4.657422e-01 | 1.105966e-08 |
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RelatedDrugs for MGAT5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MGAT5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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