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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 GALNT18 |
 Gene summary |
| Gene information | Gene symbol | GALNT18 | Gene ID | 374378 |
| Gene name | polypeptide N-acetylgalactosaminyltransferase 18 | |
| Synonyms | GALNACT18|GALNT15|GALNTL4|GalNAc-T15|GalNAc-T18 | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | polypeptide N-acetylgalactosaminyltransferase 18GalNAc-transferase 18UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15UDP-N-acetyl-alpha-D-galacto | |
| Modification date | 20200313 | |
| UniProtAcc | Q58A54, Q6P9A2, | |
| Context | - 31711042(Genome-wide Association Study Identifies SIAH3 Locus Influencing the Rate of Ventricular Enlargement in Non-Demented Elders) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GALNT18 | GO:0006493 | protein O-linked glycosylation | 22186971 |
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Gene structures and expression levels for GALNT18 |
| 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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ENSG00000110328
| 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 GALNT18 |
| 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_32275 | chr11 | 11379081:11379264:11432621:11432787:11448744:11448936 | 11432621:11432787 |
| exon_skip_35480 | chr11 | 11270877:11271290:11293029:11293193:11327086:11327181 | 11293029:11293193 |
| exon_skip_50301 | chr11 | 11327086:11327181:11332694:11332831:11340819:11341004 | 11332694:11332831 |
| 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 GALNT18 |
| 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 |
| ENST00000227756 | 11432621 | 11432787 | Frame-shift |
| ENST00000227756 | 11293029 | 11293193 | 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 |
| ENST00000227756 | 11432621 | 11432787 | Frame-shift |
| 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 |
| ENST00000227756 | 11432621 | 11432787 | Frame-shift |
| ENST00000227756 | 11293029 | 11293193 | In-frame |
| ENST00000227756 | 11332694 | 11332831 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GALNT18 |
p-ENSG00000110328_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 |
| ENST00000227756 | 2521 | 607 | 11293029 | 11293193 | 1925 | 2088 | 504 | 558 |
| 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 |
| 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 |
| ENST00000227756 | 2521 | 607 | 11332694 | 11332831 | 1691 | 1827 | 426 | 471 |
| ENST00000227756 | 2521 | 607 | 11293029 | 11293193 | 1925 | 2088 | 504 | 558 |
| 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 |
| Q6P9A2 | 504 | 558 | 92 | 607 | Alternative sequence | ID=VSP_011235;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q6P9A2 | 504 | 558 | 1 | 607 | Chain | ID=PRO_0000059141;Note=Polypeptide N-acetylgalactosaminyltransferase 18 |
| Q6P9A2 | 504 | 558 | 530 | 543 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00174 |
| Q6P9A2 | 504 | 558 | 469 | 599 | Domain | Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00174 |
| Q6P9A2 | 504 | 558 | 541 | 541 | Sequence conflict | Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6P9A2 | 504 | 558 | 36 | 607 | 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 |
| 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 |
| Q6P9A2 | 426 | 471 | 92 | 607 | Alternative sequence | ID=VSP_011235;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q6P9A2 | 426 | 471 | 1 | 607 | Chain | ID=PRO_0000059141;Note=Polypeptide N-acetylgalactosaminyltransferase 18 |
| Q6P9A2 | 426 | 471 | 368 | 447 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00174 |
| Q6P9A2 | 426 | 471 | 469 | 599 | Domain | Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00174 |
| Q6P9A2 | 426 | 471 | 36 | 607 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6P9A2 | 504 | 558 | 92 | 607 | Alternative sequence | ID=VSP_011235;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q6P9A2 | 504 | 558 | 1 | 607 | Chain | ID=PRO_0000059141;Note=Polypeptide N-acetylgalactosaminyltransferase 18 |
| Q6P9A2 | 504 | 558 | 530 | 543 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00174 |
| Q6P9A2 | 504 | 558 | 469 | 599 | Domain | Note=Ricin B-type lectin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00174 |
| Q6P9A2 | 504 | 558 | 541 | 541 | Sequence conflict | Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6P9A2 | 504 | 558 | 36 | 607 | 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 GALNT18 |
| 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 GALNT18 |
| - 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 GALNT18 |
| 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 GALNT18 |
| 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 GALNT18 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_38291 | -4.650719e-01 | 1.390342e-09 |
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RelatedDrugs for GALNT18 |
| 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 GALNT18 |
| 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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