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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for MGAT5 |
 Gene summary |
| Gene information | Gene symbol | MGAT5 | Gene ID | 4249 |
| Gene name | mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase | |
| Synonyms | GNT-V|GNT-VA | |
| 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-acetylglucosaminyltransferaseglcNAc-T Vmannoside acetylglucosaminyltransferase 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q09328 | |
| Context | PubMed: MGAT5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for MGAT5 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for MGAT5 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MGAT5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329888 | 2 | 134877752:134877862:135010665:135010789:135011832:135012215 | 135010665:135010789 | ENSG00000152127.4 | ENST00000468758.1 |
| exon_skip_329892 | 2 | 134877752:134877862:135011832:135012215:135027956:135028121 | 135011832:135012215 | ENSG00000152127.4 | ENST00000409645.1 |
| exon_skip_329907 | 2 | 135011832:135012215:135027956:135028121:135075099:135075176 | 135027956:135028121 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329908 | 2 | 135076220:135076310:135093787:135093859:135095829:135095991 | 135093787:135093859 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329910 | 2 | 135095829:135095991:135099160:135099330:135102500:135102635 | 135099160:135099330 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329911 | 2 | 135099160:135099330:135102500:135102635:135107375:135107509 | 135102500:135102635 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329912 | 2 | 135107375:135107509:135119845:135119979:135160558:135160708 | 135119845:135119979 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329913 | 2 | 135160558:135160708:135170439:135170586:135180373:135180490 | 135170439:135170586 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329914 | 2 | 135170439:135170586:135180373:135180490:135185935:135186010 | 135180373:135180490 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329915 | 2 | 135180373:135180490:135185935:135186010:135199328:135199486 | 135185935:135186010 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| exon_skip_329917 | 2 | 135185935:135186010:135199328:135199486:135206219:135206468 | 135199328:135199486 | ENSG00000152127.4 | ENST00000281923.2,ENST00000409645.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MGAT5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329888 | 2 | 134877752:134877862:135010665:135010789:135011832:135012215 | 135010665:135010789 | ENSG00000152127.4 | ENST00000468758.1 |
| exon_skip_329907 | 2 | 135011832:135012215:135027956:135028121:135075099:135075176 | 135027956:135028121 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329908 | 2 | 135076220:135076310:135093787:135093859:135095829:135095991 | 135093787:135093859 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329910 | 2 | 135095829:135095991:135099160:135099330:135102500:135102635 | 135099160:135099330 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329911 | 2 | 135099160:135099330:135102500:135102635:135107375:135107509 | 135102500:135102635 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329912 | 2 | 135107375:135107509:135119845:135119979:135160558:135160708 | 135119845:135119979 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329913 | 2 | 135160558:135160708:135170439:135170586:135180373:135180490 | 135170439:135170586 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329914 | 2 | 135170439:135170586:135180373:135180490:135185935:135186010 | 135180373:135180490 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329915 | 2 | 135180373:135180490:135185935:135186010:135199328:135199486 | 135185935:135186010 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| exon_skip_329917 | 2 | 135185935:135186010:135199328:135199486:135206219:135206468 | 135199328:135199486 | ENSG00000152127.4 | ENST00000409645.1,ENST00000281923.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000409645 | 135011832 | 135012215 | 5CDS-5UTR |
| ENST00000281923 | 135099160 | 135099330 | Frame-shift |
| ENST00000409645 | 135099160 | 135099330 | Frame-shift |
| ENST00000281923 | 135119845 | 135119979 | Frame-shift |
| ENST00000409645 | 135119845 | 135119979 | Frame-shift |
| ENST00000281923 | 135199328 | 135199486 | Frame-shift |
| ENST00000409645 | 135199328 | 135199486 | Frame-shift |
| ENST00000281923 | 135027956 | 135028121 | In-frame |
| ENST00000409645 | 135027956 | 135028121 | In-frame |
| ENST00000281923 | 135093787 | 135093859 | In-frame |
| ENST00000409645 | 135093787 | 135093859 | In-frame |
| ENST00000281923 | 135102500 | 135102635 | In-frame |
| ENST00000409645 | 135102500 | 135102635 | In-frame |
| ENST00000281923 | 135170439 | 135170586 | In-frame |
| ENST00000409645 | 135170439 | 135170586 | In-frame |
| ENST00000281923 | 135180373 | 135180490 | In-frame |
| ENST00000409645 | 135180373 | 135180490 | In-frame |
| ENST00000281923 | 135185935 | 135186010 | In-frame |
| ENST00000409645 | 135185935 | 135186010 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000281923 | 135099160 | 135099330 | Frame-shift |
| ENST00000409645 | 135099160 | 135099330 | Frame-shift |
| ENST00000281923 | 135119845 | 135119979 | Frame-shift |
| ENST00000409645 | 135119845 | 135119979 | Frame-shift |
| ENST00000281923 | 135199328 | 135199486 | Frame-shift |
| ENST00000409645 | 135199328 | 135199486 | Frame-shift |
| ENST00000281923 | 135027956 | 135028121 | In-frame |
| ENST00000409645 | 135027956 | 135028121 | In-frame |
| ENST00000281923 | 135093787 | 135093859 | In-frame |
| ENST00000409645 | 135093787 | 135093859 | In-frame |
| ENST00000281923 | 135102500 | 135102635 | In-frame |
| ENST00000409645 | 135102500 | 135102635 | In-frame |
| ENST00000281923 | 135170439 | 135170586 | In-frame |
| ENST00000409645 | 135170439 | 135170586 | In-frame |
| ENST00000281923 | 135180373 | 135180490 | In-frame |
| ENST00000409645 | 135180373 | 135180490 | In-frame |
| ENST00000281923 | 135185935 | 135186010 | In-frame |
| ENST00000409645 | 135185935 | 135186010 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MGAT5 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 2438 | 741 | 135027956 | 135028121 | 387 | 551 | 80 | 135 |
| ENST00000409645 | 8269 | 741 | 135027956 | 135028121 | 494 | 658 | 80 | 135 |
| ENST00000281923 | 2438 | 741 | 135093787 | 135093859 | 719 | 790 | 191 | 215 |
| ENST00000409645 | 8269 | 741 | 135093787 | 135093859 | 826 | 897 | 191 | 215 |
| ENST00000281923 | 2438 | 741 | 135102500 | 135102635 | 1123 | 1257 | 326 | 370 |
| ENST00000409645 | 8269 | 741 | 135102500 | 135102635 | 1230 | 1364 | 326 | 370 |
| ENST00000281923 | 2438 | 741 | 135170439 | 135170586 | 1676 | 1822 | 510 | 559 |
| ENST00000409645 | 8269 | 741 | 135170439 | 135170586 | 1783 | 1929 | 510 | 559 |
| ENST00000281923 | 2438 | 741 | 135180373 | 135180490 | 1823 | 1939 | 559 | 598 |
| ENST00000409645 | 8269 | 741 | 135180373 | 135180490 | 1930 | 2046 | 559 | 598 |
| ENST00000281923 | 2438 | 741 | 135185935 | 135186010 | 1940 | 2014 | 598 | 623 |
| ENST00000409645 | 8269 | 741 | 135185935 | 135186010 | 2047 | 2121 | 598 | 623 |
| Loci of skipped exons in GTEx 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 | 2438 | 741 | 135027956 | 135028121 | 387 | 551 | 80 | 135 |
| ENST00000409645 | 8269 | 741 | 135027956 | 135028121 | 494 | 658 | 80 | 135 |
| ENST00000281923 | 2438 | 741 | 135093787 | 135093859 | 719 | 790 | 191 | 215 |
| ENST00000409645 | 8269 | 741 | 135093787 | 135093859 | 826 | 897 | 191 | 215 |
| ENST00000281923 | 2438 | 741 | 135102500 | 135102635 | 1123 | 1257 | 326 | 370 |
| ENST00000409645 | 8269 | 741 | 135102500 | 135102635 | 1230 | 1364 | 326 | 370 |
| ENST00000281923 | 2438 | 741 | 135170439 | 135170586 | 1676 | 1822 | 510 | 559 |
| ENST00000409645 | 8269 | 741 | 135170439 | 135170586 | 1783 | 1929 | 510 | 559 |
| ENST00000281923 | 2438 | 741 | 135180373 | 135180490 | 1823 | 1939 | 559 | 598 |
| ENST00000409645 | 8269 | 741 | 135180373 | 135180490 | 1930 | 2046 | 559 | 598 |
| ENST00000281923 | 2438 | 741 | 135185935 | 135186010 | 1940 | 2014 | 598 | 623 |
| ENST00000409645 | 8269 | 741 | 135185935 | 135186010 | 2047 | 2121 | 598 | 623 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 | 80 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 80 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 80 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 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 | 326 | 370 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 326 | 370 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 326 | 370 | 334 | 334 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 326 | 370 | 334 | 334 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 326 | 370 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 326 | 370 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 510 | 559 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 510 | 559 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 510 | 559 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 510 | 559 | 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 GTEx. |
| 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 | 80 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 80 | 135 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 80 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 115 | 115 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 135 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 80 | 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 | 326 | 370 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 326 | 370 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 326 | 370 | 334 | 334 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 326 | 370 | 334 | 334 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 326 | 370 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 326 | 370 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 510 | 559 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 510 | 559 | 1 | 741 | Chain | ID=PRO_0000080522;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A |
| Q09328 | 510 | 559 | 31 | 741 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q09328 | 510 | 559 | 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 |
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SNVs in the skipped exons for MGAT5 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| STAD | TCGA-BR-4362-01 | exon_skip_329892 | 135011833 | 135012215 | 135012020 | 135012020 | Frame_Shift_Del | T | - | p.F16fs |
| STAD | TCGA-BR-4362-01 | exon_skip_329892 | 135011833 | 135012215 | 135012020 | 135012020 | Frame_Shift_Del | T | - | p.G15fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_329892 | 135011833 | 135012215 | 135012165 | 135012165 | Frame_Shift_Del | A | - | p.E64fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_329907 | 135027957 | 135028121 | 135027965 | 135027965 | Frame_Shift_Del | A | - | p.K84fs |
| STAD | TCGA-RD-A7C1-01 | exon_skip_329907 | 135027957 | 135028121 | 135027982 | 135027985 | Frame_Shift_Del | ATTA | - | p.89_90del |
| STAD | TCGA-RD-A7C1-01 | exon_skip_329907 | 135027957 | 135028121 | 135027982 | 135027985 | Frame_Shift_Del | ATTA | - | p.LL89fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_329913 | 135170440 | 135170586 | 135170536 | 135170536 | Frame_Shift_Del | A | - | p.K543fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_329913 | 135170440 | 135170586 | 135170545 | 135170545 | Frame_Shift_Del | A | - | p.K546fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_329914 | 135180374 | 135180490 | 135180477 | 135180477 | Frame_Shift_Del | T | - | p.I594fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_329914 | 135180374 | 135180490 | 135180477 | 135180477 | Frame_Shift_Del | T | - | p.I594fs |
| OV | TCGA-09-2050-01 | exon_skip_329892 | 135011833 | 135012215 | 135012008 | 135012008 | Nonsense_Mutation | C | T | p.Q12* |
| STAD | TCGA-BR-4368-01 | exon_skip_329911 | 135102501 | 135102635 | 135102526 | 135102526 | Nonsense_Mutation | C | T | p.R335* |
| STAD | TCGA-BR-4368-01 | exon_skip_329911 | 135102501 | 135102635 | 135102526 | 135102526 | Nonsense_Mutation | C | T | p.R335X |
| BRCA | TCGA-AQ-A1H2-01 | exon_skip_329907 | 135027957 | 135028121 | 135028123 | 135028123 | Splice_Site | T | G | e2+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| MDAMB231_BREAST | 135093788 | 135093859 | 135093822 | 135093823 | Frame_Shift_Ins | - | A | p.AK203fs |
| SNU685_ENDOMETRIUM | 135093788 | 135093859 | 135093822 | 135093823 | Frame_Shift_Ins | - | A | p.AK203fs |
| TM31_CENTRAL_NERVOUS_SYSTEM | 135093788 | 135093859 | 135093822 | 135093823 | Frame_Shift_Ins | - | A | p.AK203fs |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 135011833 | 135012215 | 135011991 | 135011991 | Missense_Mutation | C | T | p.P6L |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 135011833 | 135012215 | 135012015 | 135012015 | Missense_Mutation | T | C | p.L14P |
| HT115_LARGE_INTESTINE | 135011833 | 135012215 | 135012056 | 135012056 | Missense_Mutation | A | C | p.M28L |
| HCT15_LARGE_INTESTINE | 135011833 | 135012215 | 135012059 | 135012059 | Missense_Mutation | C | T | p.L29F |
| HT115_LARGE_INTESTINE | 135011833 | 135012215 | 135012084 | 135012084 | Missense_Mutation | G | A | p.R37Q |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 135011833 | 135012215 | 135012092 | 135012092 | Missense_Mutation | C | A | p.P40T |
| HCC1569_BREAST | 135011833 | 135012215 | 135012116 | 135012116 | Missense_Mutation | G | A | p.E48K |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 135011833 | 135012215 | 135012194 | 135012194 | Missense_Mutation | G | A | p.A74T |
| PSN1_PANCREAS | 135011833 | 135012215 | 135012195 | 135012195 | Missense_Mutation | C | T | p.A74V |
| SW1116_LARGE_INTESTINE | 135027957 | 135028121 | 135027977 | 135027977 | Missense_Mutation | G | T | p.V88L |
| SNU1040_LARGE_INTESTINE | 135027957 | 135028121 | 135028002 | 135028002 | Missense_Mutation | G | A | p.R96H |
| JHH6_LIVER | 135027957 | 135028121 | 135028082 | 135028082 | Missense_Mutation | G | T | p.V123F |
| DMS79_LUNG | 135027957 | 135028121 | 135028093 | 135028093 | Missense_Mutation | G | T | p.L126F |
| SNU283_LARGE_INTESTINE | 135093788 | 135093859 | 135093840 | 135093840 | Missense_Mutation | A | G | p.E209G |
| SNGM_ENDOMETRIUM | 135099161 | 135099330 | 135099167 | 135099167 | Missense_Mutation | G | A | p.V272I |
| SNUC4_LARGE_INTESTINE | 135099161 | 135099330 | 135099239 | 135099239 | Missense_Mutation | G | A | p.G296S |
| OVK18_OVARY | 135099161 | 135099330 | 135099317 | 135099317 | Missense_Mutation | G | A | p.A322T |
| MDAMB436_BREAST | 135102501 | 135102635 | 135102583 | 135102583 | Missense_Mutation | G | A | p.V354I |
| NCIH2066_LUNG | 135119846 | 135119979 | 135119872 | 135119872 | Missense_Mutation | G | T | p.G425W |
| SNU1040_LARGE_INTESTINE | 135170440 | 135170586 | 135170456 | 135170456 | Missense_Mutation | G | T | p.G516V |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 135170440 | 135170586 | 135170498 | 135170498 | Missense_Mutation | A | G | p.N530S |
| CCK81_LARGE_INTESTINE | 135170440 | 135170586 | 135170557 | 135170557 | Missense_Mutation | T | C | p.F550L |
| NCIH650_LUNG | 135185936 | 135186010 | 135185939 | 135185939 | Missense_Mutation | G | C | p.E600Q |
| LS411N_LARGE_INTESTINE | 135185936 | 135186010 | 135185945 | 135185945 | Missense_Mutation | T | A | p.Y602N |
| OV56_OVARY | 135185936 | 135186010 | 135185957 | 135185957 | Missense_Mutation | G | A | p.E606K |
| HEC108_ENDOMETRIUM | 135185936 | 135186010 | 135185963 | 135185963 | Missense_Mutation | A | G | p.T608A |
| KYSE70_OESOPHAGUS | 135185936 | 135186010 | 135185969 | 135185969 | Missense_Mutation | G | A | p.E610K |
| NCIH1836_LUNG | 135185936 | 135186010 | 135185971 | 135185971 | Missense_Mutation | G | T | p.E610D |
| CW2_LARGE_INTESTINE | 135185936 | 135186010 | 135185993 | 135185993 | Missense_Mutation | G | A | p.A618T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MGAT5 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MGAT5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MGAT5 |
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RelatedDrugs for MGAT5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| MGAT5 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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