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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 MGAT5B |
 Gene summary |
| Gene information | Gene symbol | MGAT5B | Gene ID | 146664 |
| Gene name | mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B | |
| Synonyms | GnT-IX|GnT-VB | |
| Cytomap | 17q25.2 | |
| Type of gene | protein-coding | |
| Description | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase BN-acetylglucosaminyl-transferase VbN-acetylglucosaminyltransferase IXalpha-mannoside beta-1,6-N-acetylglucosaminyltransferase Bbeta(1,6)-N-acetylglucosaminyltransferase VglcNAc-T | |
| Modification date | 20180523 | |
| UniProtAcc | Q3V5L5 | |
| Context | PubMed: MGAT5B [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 MGAT5B 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 MGAT5B |
| 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 MGAT5B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_156585 | 17 | 74864905:74865179:74868932:74869045:74878232:74878380 | 74868932:74869045 | ENSG00000167889.8 | ENST00000374998.3,ENST00000569840.2,ENST00000565675.1 |
| exon_skip_156586 | 17 | 74868932:74869045:74878232:74878380:74898636:74898752 | 74878232:74878380 | ENSG00000167889.8 | ENST00000374998.3,ENST00000569840.2,ENST00000301618.4,ENST00000428789.2,ENST00000565043.1 |
| exon_skip_156588 | 17 | 74899384:74899458:74900333:74900504:74901250:74901415 | 74900333:74900504 | ENSG00000167889.8 | ENST00000374998.3,ENST00000569840.2,ENST00000301618.4,ENST00000428789.2,ENST00000565043.1 |
| exon_skip_156593 | 17 | 74922678:74922812:74928726:74928857:74934069:74934225 | 74928726:74928857 | ENSG00000167889.8 | ENST00000301618.4,ENST00000428789.2 |
| exon_skip_156594 | 17 | 74928726:74928857:74929373:74929379:74934069:74934225 | 74929373:74929379 | ENSG00000167889.8 | ENST00000569840.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MGAT5B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_156585 | 17 | 74864905:74865179:74868932:74869045:74878232:74878380 | 74868932:74869045 | ENSG00000167889.8 | ENST00000569840.2,ENST00000565675.1,ENST00000374998.3 |
| exon_skip_156586 | 17 | 74868932:74869045:74878232:74878380:74898636:74898752 | 74878232:74878380 | ENSG00000167889.8 | ENST00000301618.4,ENST00000569840.2,ENST00000374998.3,ENST00000428789.2,ENST00000565043.1 |
| exon_skip_156588 | 17 | 74899384:74899458:74900333:74900504:74901250:74901415 | 74900333:74900504 | ENSG00000167889.8 | ENST00000301618.4,ENST00000569840.2,ENST00000374998.3,ENST00000428789.2,ENST00000565043.1 |
| exon_skip_156593 | 17 | 74922678:74922812:74928726:74928857:74934069:74934225 | 74928726:74928857 | ENSG00000167889.8 | ENST00000301618.4,ENST00000428789.2 |
| exon_skip_156594 | 17 | 74928726:74928857:74929373:74929379:74934069:74934225 | 74929373:74929379 | ENSG00000167889.8 | ENST00000569840.2 |
| 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 MGAT5B |
| 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 |
| ENST00000569840 | 74868932 | 74869045 | Frame-shift |
| ENST00000569840 | 74878232 | 74878380 | Frame-shift |
| ENST00000569840 | 74900333 | 74900504 | In-frame |
| ENST00000569840 | 74929373 | 74929379 | 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 |
| ENST00000569840 | 74868932 | 74869045 | Frame-shift |
| ENST00000569840 | 74878232 | 74878380 | Frame-shift |
| ENST00000569840 | 74900333 | 74900504 | In-frame |
| ENST00000569840 | 74929373 | 74929379 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MGAT5B |
| 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 |
| ENST00000569840 | 4509 | 792 | 74900333 | 74900504 | 1094 | 1264 | 173 | 230 |
| 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 |
| ENST00000569840 | 4509 | 792 | 74900333 | 74900504 | 1094 | 1264 | 173 | 230 |
| 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 |
| Q3V5L5 | 173 | 230 | 1 | 792 | Chain | ID=PRO_0000288611;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B |
| Q3V5L5 | 173 | 230 | 46 | 792 | 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 |
| Q3V5L5 | 173 | 230 | 1 | 792 | Chain | ID=PRO_0000288611;Note=Alpha-1%2C6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B |
| Q3V5L5 | 173 | 230 | 46 | 792 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for MGAT5B |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_156585 | 74868933 | 74869045 | 74868972 | 74868972 | Frame_Shift_Del | C | - | p.F36fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_156585 | 74868933 | 74869045 | 74869014 | 74869014 | Frame_Shift_Del | G | - | p.L50fs |
| LUAD | TCGA-86-8673-01 | exon_skip_156585 | 74868933 | 74869045 | 74869014 | 74869014 | Frame_Shift_Del | G | - | p.L50fs |
| LGG | TCGA-HT-8564-01 | exon_skip_156586 | 74878233 | 74878380 | 74878237 | 74878237 | Frame_Shift_Del | G | - | p.M62fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_156586 | 74878233 | 74878380 | 74878237 | 74878237 | Frame_Shift_Del | G | - | p.M62fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_156588 | 74900334 | 74900504 | 74900379 | 74900379 | Frame_Shift_Del | G | - | p.G189fs |
| BRCA | TCGA-BH-A18Q-01 | exon_skip_156588 | 74900334 | 74900504 | 74900382 | 74900395 | Frame_Shift_Del | GTGGACGGCACCGA | - | p.D202fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_156588 | 74900334 | 74900504 | 74900438 | 74900438 | Frame_Shift_Del | C | - | p.C208fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_156588 | 74900334 | 74900504 | 74900438 | 74900438 | Frame_Shift_Del | C | - | p.C219fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_156588 | 74900334 | 74900504 | 74900438 | 74900438 | Frame_Shift_Del | C | - | p.P221fs |
| COAD | TCGA-AY-6197-01 | exon_skip_156588 | 74900334 | 74900504 | 74900437 | 74900438 | Frame_Shift_Ins | - | C | p.C208fs |
| LUAD | TCGA-95-7562-01 | exon_skip_156586 | 74878233 | 74878380 | 74878337 | 74878337 | Nonsense_Mutation | G | T | p.E96* |
| BRCA | TCGA-A7-A0DA-01 | exon_skip_156593 | 74928727 | 74928857 | 74928858 | 74928858 | Splice_Site | G | T | e10+1 |
| SKCM | TCGA-EE-A2GI-06 | exon_skip_156593 | 74928727 | 74928857 | 74928858 | 74928858 | Splice_Site | G | A | . |
| - 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 |
| LS180_LARGE_INTESTINE | 74878233 | 74878380 | 74878243 | 74878243 | Frame_Shift_Del | C | - | p.G64fs |
| RH30_SOFT_TISSUE | 74868933 | 74869045 | 74868980 | 74868981 | Frame_Shift_Ins | - | G | p.S40fs |
| HUTU80_SMALL_INTESTINE | 74868933 | 74869045 | 74868980 | 74868980 | Missense_Mutation | C | T | p.T39M |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74868933 | 74869045 | 74868992 | 74868992 | Missense_Mutation | G | A | p.G43D |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74868933 | 74869045 | 74869001 | 74869001 | Missense_Mutation | C | T | p.S46L |
| RERFLCSQ1_LUNG | 74868933 | 74869045 | 74869009 | 74869009 | Missense_Mutation | C | T | p.R49C |
| LU99_LUNG | 74878233 | 74878380 | 74878302 | 74878302 | Missense_Mutation | G | A | p.R84H |
| SW1271_LUNG | 74878233 | 74878380 | 74878316 | 74878316 | Missense_Mutation | G | T | p.A89S |
| NCIH2106_LUNG | 74878233 | 74878380 | 74878336 | 74878336 | Missense_Mutation | T | A | p.S95R |
| EW18_BONE | 74878233 | 74878380 | 74878341 | 74878341 | Missense_Mutation | T | G | p.L97R |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 74900334 | 74900504 | 74900340 | 74900340 | Missense_Mutation | C | T | p.R176C |
| TT_OESOPHAGUS | 74900334 | 74900504 | 74900341 | 74900341 | Missense_Mutation | G | A | p.R176H |
| HUPT3_PANCREAS | 74900334 | 74900504 | 74900341 | 74900341 | Missense_Mutation | G | A | p.R176H |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74900334 | 74900504 | 74900380 | 74900380 | Missense_Mutation | G | T | p.G189V |
| COLO783_SKIN | 74900334 | 74900504 | 74900427 | 74900427 | Missense_Mutation | G | C | p.E205Q |
| VMRCRCW_KIDNEY | 74900334 | 74900504 | 74900442 | 74900442 | Missense_Mutation | C | T | p.P210S |
| SNU1040_LARGE_INTESTINE | 74900334 | 74900504 | 74900443 | 74900443 | Missense_Mutation | C | T | p.P210L |
| NCIH2342_LUNG | 74900334 | 74900504 | 74900470 | 74900470 | Missense_Mutation | C | G | p.A219G |
| UACC257_SKIN | 74900334 | 74900504 | 74900482 | 74900482 | Missense_Mutation | C | T | p.P223L |
| IM95_STOMACH | 74900334 | 74900504 | 74900488 | 74900488 | Missense_Mutation | C | G | p.P225R |
| JMSU1_URINARY_TRACT | 74928727 | 74928857 | 74928797 | 74928797 | Missense_Mutation | C | G | p.I454M |
| EN_ENDOMETRIUM | 74928727 | 74928857 | 74928816 | 74928816 | Missense_Mutation | A | G | p.N461D |
| MCC13_SKIN | 74900334 | 74900504 | 74900460 | 74900460 | Nonsense_Mutation | C | T | p.Q216* |
| HEC6_ENDOMETRIUM | 74928727 | 74928857 | 74928857 | 74928858 | Splice_Site | - | CTCCA | p.-475fs |
| SW620_LARGE_INTESTINE | 74928727 | 74928857 | 74928857 | 74928858 | Splice_Site | - | CTCCA | p.-475fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MGAT5B |
| 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 MGAT5B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MGAT5B |
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RelatedDrugs for MGAT5B |
| 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 MGAT5B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MGAT5B | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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