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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 UGGT2 |
 Gene summary |
| Gene information | Gene symbol | UGGT2 | Gene ID | 55757 |
| Gene name | UDP-glucose glycoprotein glucosyltransferase 2 | |
| Synonyms | HUGT2|UGCGL2|UGT2 | |
| Cytomap | 13q32.1 | |
| Type of gene | protein-coding | |
| Description | UDP-glucose:glycoprotein glucosyltransferase 2UDP-Glc:glycoprotein glucosyltransferase 2UDP-glucose ceramide glucosyltransferase-like 1UDP-glucose ceramide glucosyltransferase-like 2 | |
| 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 |
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Gene structures and expression levels for UGGT2 |
| 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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ENSG00000102595
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000465196.5 | UGGT2-208:lncRNA:UGGT2 | 9.540375e+00 | 1.395619e+00 | 3.012948e-03 | 3.192599e-02 |
| CB | DOWN | ENST00000462472.1 | UGGT2-206:lncRNA:UGGT2 | 9.609567e+00 | -9.388197e-01 | 6.063210e-08 | 1.390920e-06 |
| 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 UGGT2 |
| 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_104828 | chr13 | 95996063:95996135:95999211:95999307:96013307:96013411 | 95999211:95999307 |
| exon_skip_119144 | chr13 | 95887892:95887971:95890862:95890964:95894562:95894570 | 95890862:95890964 |
| exon_skip_163737 | chr13 | 95925680:95925774:95927028:95927126:95927213:95927336 | 95927028:95927126 |
| exon_skip_171257 | chr13 | 95856158:95856340:95859591:95859675:95860788:95860821 | 95859591:95859675 |
| exon_skip_175453 | chr13 | 95884546:95884680:95887273:95887393:95887892:95887971 | 95887273:95887393 |
| exon_skip_192254 | chr13 | 95884491:95884680:95887892:95887971:95890862:95890964 | 95887892:95887971 |
| exon_skip_242943 | chr13 | 95856158:95856340:95859591:95859675:95860788:95860883 | 95859591:95859675 |
| exon_skip_245454 | chr13 | 95989973:95990073:95996063:95996135:95999211:95999307 | 95996063:95996135 |
| exon_skip_245495 | chr13 | 95986333:95986432:95989973:95990073:95996063:95996135 | 95989973:95990073 |
| exon_skip_249417 | chr13 | 95986333:95986432:95989521:95989598:95989973:95990073 | 95989521:95989598 |
| exon_skip_253725 | chr13 | 95867339:95867423:95877279:95877364:95877698:95877856 | 95877279:95877364 |
| exon_skip_275820 | chr13 | 95832927:95833053:95837086:95837202:95853543:95853657 | 95837086:95837202 |
| exon_skip_292182 | chr13 | 95895180:95895304:95900807:95900938:95902854:95903060 | 95900807:95900938 |
| exon_skip_293754 | chr13 | 96023629:96023759:96031889:96031971:96053155:96053393 | 96031889:96031971 |
| exon_skip_293794 | chr13 | 95972580:95972671:95983804:95983864:95986333:95986432 | 95983804:95983864 |
| exon_skip_35421 | chr13 | 95983804:95983864:95986333:95986432:95996063:95996135 | 95986333:95986432 |
| exon_skip_44487 | chr13 | 95863629:95863714:95867339:95867423:95877279:95877340 | 95867339:95867423 |
| exon_skip_70747 | chr13 | 95837086:95837202:95853543:95853657:95854315:95854475 | 95853543:95853657 |
| exon_skip_71083 | chr13 | 95854452:95854475:95856158:95856340:95859591:95859675 | 95856158:95856340 |
| exon_skip_76717 | chr13 | 95884491:95884680:95887273:95887393:95887892:95887971 | 95887273:95887393 |
| exon_skip_86005 | chr13 | 95859591:95859675:95860788:95860883:95863629:95863714 | 95860788:95860883 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_145701 | MSBB_PG | 4.829412e-01 | 6.774510e-01 | -1.945098e-01 | 4.975727e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for UGGT2 |
| 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 |
| ENST00000376747 | 95859591 | 95859675 | Frame-shift |
| ENST00000376747 | 95867339 | 95867423 | Frame-shift |
| ENST00000376747 | 95877279 | 95877364 | Frame-shift |
| ENST00000376747 | 95983804 | 95983864 | Frame-shift |
| ENST00000376747 | 95989973 | 95990073 | Frame-shift |
| ENST00000376747 | 95999211 | 95999307 | Frame-shift |
| ENST00000376747 | 95856158 | 95856340 | In-frame |
| ENST00000376747 | 95860788 | 95860883 | In-frame |
| ENST00000376747 | 95900807 | 95900938 | In-frame |
| ENST00000376747 | 95927028 | 95927126 | 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 |
| ENST00000376747 | 95859591 | 95859675 | Frame-shift |
| ENST00000376747 | 95887892 | 95887971 | Frame-shift |
| ENST00000376747 | 95983804 | 95983864 | Frame-shift |
| ENST00000376747 | 95989973 | 95990073 | Frame-shift |
| ENST00000376747 | 95999211 | 95999307 | Frame-shift |
| ENST00000376747 | 95856158 | 95856340 | In-frame |
| ENST00000376747 | 95860788 | 95860883 | In-frame |
| ENST00000376747 | 95900807 | 95900938 | In-frame |
| ENST00000376747 | 95927028 | 95927126 | 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 |
| ENST00000376747 | 95853543 | 95853657 | Frame-shift |
| ENST00000376747 | 95859591 | 95859675 | Frame-shift |
| ENST00000376747 | 95890862 | 95890964 | Frame-shift |
| ENST00000376747 | 95983804 | 95983864 | Frame-shift |
| ENST00000376747 | 95989973 | 95990073 | Frame-shift |
| ENST00000376747 | 95996063 | 95996135 | Frame-shift |
| ENST00000376747 | 95999211 | 95999307 | Frame-shift |
| ENST00000376747 | 95837086 | 95837202 | In-frame |
| ENST00000376747 | 95856158 | 95856340 | In-frame |
| ENST00000376747 | 95860788 | 95860883 | In-frame |
| ENST00000376747 | 95900807 | 95900938 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UGGT2 |
p-ENSG00000102595_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 |
| ENST00000376747 | 4849 | 1516 | 95927028 | 95927126 | 2173 | 2270 | 700 | 733 |
| ENST00000376747 | 4849 | 1516 | 95900807 | 95900938 | 2574 | 2704 | 834 | 877 |
| ENST00000376747 | 4849 | 1516 | 95860788 | 95860883 | 3716 | 3810 | 1215 | 1246 |
| ENST00000376747 | 4849 | 1516 | 95856158 | 95856340 | 3897 | 4078 | 1275 | 1335 |
| 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 |
| ENST00000376747 | 4849 | 1516 | 95927028 | 95927126 | 2173 | 2270 | 700 | 733 |
| ENST00000376747 | 4849 | 1516 | 95900807 | 95900938 | 2574 | 2704 | 834 | 877 |
| ENST00000376747 | 4849 | 1516 | 95860788 | 95860883 | 3716 | 3810 | 1215 | 1246 |
| ENST00000376747 | 4849 | 1516 | 95856158 | 95856340 | 3897 | 4078 | 1275 | 1335 |
| 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 |
| ENST00000376747 | 4849 | 1516 | 95900807 | 95900938 | 2574 | 2704 | 834 | 877 |
| ENST00000376747 | 4849 | 1516 | 95860788 | 95860883 | 3716 | 3810 | 1215 | 1246 |
| ENST00000376747 | 4849 | 1516 | 95856158 | 95856340 | 3897 | 4078 | 1275 | 1335 |
| ENST00000376747 | 4849 | 1516 | 95837086 | 95837202 | 4356 | 4471 | 1428 | 1466 |
| 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 |
| Q9NYU1 | 700 | 733 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 700 | 733 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 834 | 877 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 834 | 877 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 834 | 877 | 865 | 865 | Natural variant | ID=VAR_061196;Note=K->R;Dbxref=dbSNP:rs35060832 |
| Q9NYU1 | 1215 | 1246 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 1215 | 1246 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 1215 | 1246 | 1220 | 1516 | Region | Note=Glucosyltransferase |
| Q9NYU1 | 1275 | 1335 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 1275 | 1335 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 1275 | 1335 | 1289 | 1289 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9NYU1 | 1275 | 1335 | 1285 | 1285 | Natural variant | ID=VAR_061197;Note=Y->F;Dbxref=dbSNP:rs35123499 |
| Q9NYU1 | 1275 | 1335 | 1220 | 1516 | Region | Note=Glucosyltransferase |
| 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 |
| Q9NYU1 | 700 | 733 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 700 | 733 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 834 | 877 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 834 | 877 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 834 | 877 | 865 | 865 | Natural variant | ID=VAR_061196;Note=K->R;Dbxref=dbSNP:rs35060832 |
| Q9NYU1 | 1215 | 1246 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 1215 | 1246 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 1215 | 1246 | 1220 | 1516 | Region | Note=Glucosyltransferase |
| Q9NYU1 | 1275 | 1335 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 1275 | 1335 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 1275 | 1335 | 1289 | 1289 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9NYU1 | 1275 | 1335 | 1285 | 1285 | Natural variant | ID=VAR_061197;Note=Y->F;Dbxref=dbSNP:rs35123499 |
| Q9NYU1 | 1275 | 1335 | 1220 | 1516 | Region | Note=Glucosyltransferase |
| 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 |
| Q9NYU1 | 834 | 877 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 834 | 877 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 834 | 877 | 865 | 865 | Natural variant | ID=VAR_061196;Note=K->R;Dbxref=dbSNP:rs35060832 |
| Q9NYU1 | 1215 | 1246 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 1215 | 1246 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 1215 | 1246 | 1220 | 1516 | Region | Note=Glucosyltransferase |
| Q9NYU1 | 1275 | 1335 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 1275 | 1335 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 1275 | 1335 | 1289 | 1289 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9NYU1 | 1275 | 1335 | 1285 | 1285 | Natural variant | ID=VAR_061197;Note=Y->F;Dbxref=dbSNP:rs35123499 |
| Q9NYU1 | 1275 | 1335 | 1220 | 1516 | Region | Note=Glucosyltransferase |
| Q9NYU1 | 1428 | 1466 | 279 | 1516 | Alternative sequence | ID=VSP_056320;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYU1 | 1428 | 1466 | 28 | 1516 | Chain | ID=PRO_0000012274;Note=UDP-glucose:glycoprotein glucosyltransferase 2 |
| Q9NYU1 | 1428 | 1466 | 1220 | 1516 | Region | Note=Glucosyltransferase |
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3'-UTR located exon skipping events that lost miRNA binding sites in UGGT2 |
| 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 UGGT2 |
| - 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 UGGT2 |
| 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 UGGT2 |
| 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 UGGT2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | RBM3 | exon_skip_293794 | 5.778109e-01 | 1.281788e-03 |
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RelatedDrugs for UGGT2 |
| 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 UGGT2 |
| 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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