|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for GLT8D2 |
Gene summary |
Gene information | Gene symbol | GLT8D2 | Gene ID | 83468 |
Gene name | glycosyltransferase 8 domain containing 2 | |
Synonyms | - | |
Cytomap | 12q23.3 | |
Type of gene | protein-coding | |
Description | glycosyltransferase 8 domain-containing protein 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 |
Top |
Gene structures and expression levels for GLT8D2 |
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. |
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 |
CB | UP | ENST00000360814.8 | GLT8D2-201:protein_coding:GLT8D2 | 5.702841e+00 | 9.889782e-01 | 6.734889e-03 | 2.512543e-02 |
TC | UP | ENST00000360814.8 | GLT8D2-201:protein_coding:GLT8D2 | 3.997525e+01 | 1.018735e+00 | 1.519420e-07 | 8.593968e-06 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GLT8D2 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_179687 | chr12 | 104019630:104019676:104021357:104021491:104049895:104050021 | 104021357:104021491 |
exon_skip_216223 | chr12 | 103989280:103989577:103993392:103993504:103994335:103994501 | 103993392:103993504 |
exon_skip_234850 | chr12 | 104019630:104019676:104049895:104050288:104063949:104064183 | 104049895:104050288 |
exon_skip_239578 | chr12 | 104019632:104019676:104021357:104021491:104049895:104050021 | 104021357:104021491 |
exon_skip_289674 | chr12 | 104019630:104019676:104021357:104021491:104049895:104050136 | 104021357:104021491 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GLT8D2 |
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 |
ENST00000548660 | 104049895 | 104050288 | 3UTR-3UTR |
ENST00000360814 | 103993392 | 103993504 | Frame-shift |
ENST00000546436 | 103993392 | 103993504 | Frame-shift |
ENST00000548660 | 103993392 | 103993504 | 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 |
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 |
ENST00000548660 | 104049895 | 104050288 | 3UTR-3UTR |
Top |
Infer the effects of exon skipping event on protein functional features for GLT8D2 |
p-ENSG00000120820_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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in GLT8D2 |
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 | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3122 | chr12:104050026-104050033 | 8mer-1a | chr12:104050021-104050042 | 155.00 | -22.66 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-6742-3p | chr12:104050163-104050170 | 8mer-1a | chr12:104050162-104050183 | 168.00 | -29.90 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-129-5p | chr12:104050271-104050278 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-615-3p | chr12:104050229-104050236 | 8mer-1a | chr12:104050217-104050236 | 147.00 | -24.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3913-5p | chr12:104050026-104050033 | 8mer-1a | chr12:104050021-104050042 | 155.00 | -22.66 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-19a-5p | chr12:104050262-104050269 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-19b-1-5p | chr12:104050262-104050269 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-365a-5p | chr12:104050024-104050031 | 8mer-1a | chr12:104050010-104050031 | 168.00 | -24.51 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3680-3p | chr12:104050269-104050276 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-6777-5p | chr12:104050081-104050088 | 8mer-1a | chr12:104050079-104050099 | 161.00 | -29.69 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-365b-5p | chr12:104050024-104050031 | 8mer-1a | chr12:104050010-104050031 | 168.00 | -24.51 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-5047 | chr12:104049940-104049947 | 8mer-1a | chr12:104049924-104049947 | 152.00 | -22.53 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-23a-5p | chr12:104050160-104050167 | 8mer-1a | chr12:104050147-104050167 | 155.00 | -24.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-1301-3p | chr12:104049940-104049947 | 8mer-1a | chr12:104049924-104049947 | 152.00 | -22.53 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-128-1-5p | chr12:104050191-104050198 | 8mer-1a | chr12:104050178-104050198 | 157.00 | -28.02 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4325 | chr12:104050258-104050265 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-6889-5p | chr12:104050081-104050088 | 8mer-1a | chr12:104050079-104050099 | 161.00 | -29.69 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-128-2-5p | chr12:104050191-104050198 | 8mer-1a | chr12:104050178-104050198 | 157.00 | -28.02 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-7977 | chr12:104050156-104050163 | 8mer-1a | chr12:104050147-104050167 | 155.00 | -24.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-9983-3p | chr12:104050271-104050278 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4283 | chr12:104050042-104050049 | 8mer-1a | chr12:104050029-104050052 | 148.00 | -29.52 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4660 | chr12:104049939-104049946 | 8mer-1a | chr12:104049924-104049946 | 159.00 | -30.34 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-23b-5p | chr12:104050160-104050167 | 8mer-1a | chr12:104050147-104050167 | 155.00 | -24.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3621 | chr12:104050087-104050094 | 8mer-1a | chr12:104050079-104050099 | 161.00 | -29.69 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4666b | chr12:104050267-104050274 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-766-3p | chr12:104050036-104050043 | 8mer-1a | chr12:104050029-104050052 | 148.00 | -29.52 |
Mayo | ENST00000548660 | 104049895 | 104050288 | hsa-miR-19b-2-5p | chr12:104050262-104050269 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3122 | chr12:104050026-104050033 | 8mer-1a | chr12:104050021-104050042 | 155.00 | -22.66 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-6742-3p | chr12:104050163-104050170 | 8mer-1a | chr12:104050162-104050183 | 168.00 | -29.90 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-129-5p | chr12:104050271-104050278 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-615-3p | chr12:104050229-104050236 | 8mer-1a | chr12:104050217-104050236 | 147.00 | -24.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3913-5p | chr12:104050026-104050033 | 8mer-1a | chr12:104050021-104050042 | 155.00 | -22.66 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-19a-5p | chr12:104050262-104050269 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-19b-1-5p | chr12:104050262-104050269 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-365a-5p | chr12:104050024-104050031 | 8mer-1a | chr12:104050010-104050031 | 168.00 | -24.51 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3680-3p | chr12:104050269-104050276 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-6777-5p | chr12:104050081-104050088 | 8mer-1a | chr12:104050079-104050099 | 161.00 | -29.69 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-365b-5p | chr12:104050024-104050031 | 8mer-1a | chr12:104050010-104050031 | 168.00 | -24.51 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-5047 | chr12:104049940-104049947 | 8mer-1a | chr12:104049924-104049947 | 152.00 | -22.53 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-23a-5p | chr12:104050160-104050167 | 8mer-1a | chr12:104050147-104050167 | 155.00 | -24.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-1301-3p | chr12:104049940-104049947 | 8mer-1a | chr12:104049924-104049947 | 152.00 | -22.53 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-128-1-5p | chr12:104050191-104050198 | 8mer-1a | chr12:104050178-104050198 | 157.00 | -28.02 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4325 | chr12:104050258-104050265 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-6889-5p | chr12:104050081-104050088 | 8mer-1a | chr12:104050079-104050099 | 161.00 | -29.69 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-128-2-5p | chr12:104050191-104050198 | 8mer-1a | chr12:104050178-104050198 | 157.00 | -28.02 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-7977 | chr12:104050156-104050163 | 8mer-1a | chr12:104050147-104050167 | 155.00 | -24.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-9983-3p | chr12:104050271-104050278 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4283 | chr12:104050042-104050049 | 8mer-1a | chr12:104050029-104050052 | 148.00 | -29.52 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4660 | chr12:104049939-104049946 | 8mer-1a | chr12:104049924-104049946 | 159.00 | -30.34 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-23b-5p | chr12:104050160-104050167 | 8mer-1a | chr12:104050147-104050167 | 155.00 | -24.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-3621 | chr12:104050087-104050094 | 8mer-1a | chr12:104050079-104050099 | 161.00 | -29.69 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-4666b | chr12:104050267-104050274 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-766-3p | chr12:104050036-104050043 | 8mer-1a | chr12:104050029-104050052 | 148.00 | -29.52 |
ROSMAP | ENST00000548660 | 104049895 | 104050288 | hsa-miR-19b-2-5p | chr12:104050262-104050269 | 8mer-1a | chr12:104050256-104050278 | 159.00 | -17.58 |
Top |
SNVs in the skipped exons for GLT8D2 |
- 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 |
Top |
AD stage-associated exon skippint events for GLT8D2 |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLT8D2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for GLT8D2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for GLT8D2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for GLT8D2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |