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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 GLT8D1 |
 Gene summary |
| Gene information | Gene symbol | GLT8D1 | Gene ID | 55830 |
| Gene name | glycosyltransferase 8 domain containing 1 | |
| Synonyms | AD-017|MSTP139 | |
| Cytomap | 3p21.1 | |
| Type of gene | protein-coding | |
| Description | glycosyltransferase 8 domain-containing protein 1glycosyltransferase AD-017 | |
| 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 GLT8D1 |
| 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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ENSG00000016864
| 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 GLT8D1 |
| 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_130903 | chr3 | 52695928:52696040:52696234:52696318:52696542:52696580 | 52696234:52696318 |
| exon_skip_212749 | chr3 | 52700445:52700496:52703799:52703928:52704724:52704948 | 52703799:52703928 |
| exon_skip_263800 | chr3 | 52700445:52700496:52704724:52704952:52705447:52705588 | 52704724:52704952 |
| exon_skip_278203 | chr3 | 52695190:52695302:52695421:52695587:52695928:52696040 | 52695421:52695587 |
| exon_skip_288398 | chr3 | 52700445:52700496:52704724:52704952:52705447:52705654 | 52704724:52704952 |
| exon_skip_54701 | chr3 | 52703799:52703928:52704724:52704948:52705447:52705654 | 52704724:52704948 |
| exon_skip_71134 | chr3 | 52700445:52700496:52704724:52704952:52705703:52705791 | 52704724:52704952 |
| 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_131884 | Mayo_CB | 6.297531e-01 | 5.242424e-01 | 1.055107e-01 | 2.035182e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for GLT8D1 |
| 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 |
| ENST00000478968 | 52704724 | 52704952 | 3UTR-3UTR |
| ENST00000266014 | 52696234 | 52696318 | Frame-shift |
| ENST00000394783 | 52696234 | 52696318 | Frame-shift |
| ENST00000478968 | 52696234 | 52696318 | Frame-shift |
| ENST00000491606 | 52696234 | 52696318 | Frame-shift |
| 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 |
| ENST00000266014 | 52696234 | 52696318 | Frame-shift |
| ENST00000394783 | 52696234 | 52696318 | Frame-shift |
| ENST00000478968 | 52696234 | 52696318 | Frame-shift |
| ENST00000491606 | 52696234 | 52696318 | 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 |
| ENST00000478968 | 52704724 | 52704952 | 3UTR-3UTR |
| ENST00000266014 | 52695421 | 52695587 | Frame-shift |
| ENST00000394783 | 52695421 | 52695587 | Frame-shift |
| ENST00000478968 | 52695421 | 52695587 | Frame-shift |
| ENST00000491606 | 52695421 | 52695587 | Frame-shift |
| ENST00000266014 | 52696234 | 52696318 | Frame-shift |
| ENST00000394783 | 52696234 | 52696318 | Frame-shift |
| ENST00000478968 | 52696234 | 52696318 | Frame-shift |
| ENST00000491606 | 52696234 | 52696318 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GLT8D1 |
p-ENSG00000016864_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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GLT8D1 |
| 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 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6726-5p | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4423-5p | chr3:52704907-52704914 | 8mer-1a | chr3:52704905-52704922 | 155.00 | -18.11 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6077 | chr3:52704899-52704906 | 8mer-1a | chr3:52704887-52704906 | 153.00 | -17.43 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-765 | chr3:52704771-52704778 | 8mer-1a | chr3:52704760-52704779 | 150.00 | -28.74 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4480 | chr3:52704745-52704752 | 8mer-1a | chr3:52704732-52704752 | 164.00 | -21.20 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4300 | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-920 | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6759-3p | chr3:52704756-52704763 | 8mer-1a | chr3:52704744-52704767 | 157.00 | -22.88 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-1233-5p | chr3:52704809-52704816 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-11181-3p | chr3:52704771-52704778 | 8mer-1a | chr3:52704760-52704779 | 150.00 | -28.74 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6778-5p | chr3:52704809-52704816 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6779-3p | chr3:52704834-52704841 | 8mer-1a | chr3:52704828-52704849 | 156.00 | -16.99 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-5591-5p | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| Mayo | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4660 | chr3:52704790-52704797 | 8mer-1a | chr3:52704785-52704805 | 166.00 | -29.60 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6726-5p | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4423-5p | chr3:52704907-52704914 | 8mer-1a | chr3:52704905-52704922 | 155.00 | -18.11 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6077 | chr3:52704899-52704906 | 8mer-1a | chr3:52704887-52704906 | 153.00 | -17.43 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-765 | chr3:52704771-52704778 | 8mer-1a | chr3:52704760-52704779 | 150.00 | -28.74 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4480 | chr3:52704745-52704752 | 8mer-1a | chr3:52704732-52704752 | 164.00 | -21.20 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4300 | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-920 | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6759-3p | chr3:52704756-52704763 | 8mer-1a | chr3:52704744-52704767 | 157.00 | -22.88 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-1233-5p | chr3:52704809-52704816 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-11181-3p | chr3:52704771-52704778 | 8mer-1a | chr3:52704760-52704779 | 150.00 | -28.74 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6778-5p | chr3:52704809-52704816 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-6779-3p | chr3:52704834-52704841 | 8mer-1a | chr3:52704828-52704849 | 156.00 | -16.99 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-5591-5p | chr3:52704807-52704814 | 8mer-1a | chr3:52704795-52704816 | 163.00 | -26.67 |
| ROSMAP | ENST00000478968 | 52704724 | 52704952 | hsa-miR-4660 | chr3:52704790-52704797 | 8mer-1a | chr3:52704785-52704805 | 166.00 | -29.60 |
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SNVs in the skipped exons for GLT8D1 |
| - 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 GLT8D1 |
| 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 GLT8D1 |
| 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 GLT8D1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_131884 | 4.394461e-01 | 2.570083e-08 |
| CB | ZNF638 | exon_skip_131884 | 4.365604e-01 | 3.244304e-08 |
| CB | RBM45 | exon_skip_131884 | -6.586432e-01 | 1.224036e-19 |
| CB | NUP42 | exon_skip_131884 | -4.470735e-01 | 1.373920e-08 |
| CB | TARDBP | exon_skip_288398 | 5.241445e-01 | 4.957020e-12 |
| CB | ZNF638 | exon_skip_288398 | 4.732990e-01 | 8.399009e-10 |
| CB | PCBP1 | exon_skip_288398 | 4.904954e-01 | 1.625539e-10 |
| CB | HNRNPA2B1 | exon_skip_288398 | 5.205647e-01 | 7.319288e-12 |
| CB | RBM45 | exon_skip_288398 | -5.351892e-01 | 1.446625e-12 |
| CB | RBM23 | exon_skip_288398 | 4.594640e-01 | 2.951546e-09 |
| CB | HNRNPF | exon_skip_288398 | 4.146075e-01 | 1.205776e-07 |
| IFG | HNRNPD | exon_skip_130903 | -4.292729e-01 | 3.224135e-02 |
| IFG | RBM41 | exon_skip_130903 | -4.439909e-01 | 2.619169e-02 |
| IFG | NOVA1 | exon_skip_130903 | -4.771062e-01 | 1.588303e-02 |
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RelatedDrugs for GLT8D1 |
| 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 GLT8D1 |
| 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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