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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for GSK3A |
Gene summary |
Gene information | Gene symbol | GSK3A | Gene ID | 2931 |
Gene name | glycogen synthase kinase 3 alpha | |
Synonyms | - | |
Cytomap | 19q13.2 | |
Type of gene | protein-coding | |
Description | glycogen synthase kinase-3 alphaGSK-3 alphaserine/threonine-protein kinase GSK3A | |
Modification date | 20180522 | |
UniProtAcc | P49840 | |
Context | PubMed: GSK3A [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 |
GSK3A | GO:0006468 | protein phosphorylation | 11035810 |
GSK3A | GO:0018107 | peptidyl-threonine phosphorylation | 25897075 |
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Exon skipping events across known transcript of Ensembl for GSK3A 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 GSK3A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GSK3A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_319037 | 19 | 42736208:42736301:42736647:42736834:42737261:42737357 | 42736647:42736834 | ENSG00000105723.7 | ENST00000398249.4,ENST00000453535.1,ENST00000222330.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GSK3A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_319037 | 19 | 42736208:42736301:42736647:42736834:42737261:42737357 | 42736647:42736834 | ENSG00000105723.7 | ENST00000222330.3,ENST00000398249.4,ENST00000453535.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for GSK3A |
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 |
ENST00000222330 | 42736647 | 42736834 | Frame-shift |
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 |
ENST00000222330 | 42736647 | 42736834 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GSK3A |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
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 |
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 |
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 |
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SNVs in the skipped exons for GSK3A |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-A3A0-01 | exon_skip_319037 | 42736648 | 42736834 | 42736770 | 42736770 | Frame_Shift_Del | G | - | p.P306fs |
PRAD | TCGA-XK-AAIW-01 | exon_skip_319037 | 42736648 | 42736834 | 42736822 | 42736822 | Nonsense_Mutation | G | A | p.R289* |
STAD | TCGA-BR-A44U-01 | exon_skip_319037 | 42736648 | 42736834 | 42736836 | 42736836 | Splice_Site | T | C | p.V367_splice |
- 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 |
HEC59_ENDOMETRIUM | 42736648 | 42736834 | 42736749 | 42736749 | Missense_Mutation | A | T | p.L395Q |
MZ7MEL_SKIN | 42736648 | 42736834 | 42736798 | 42736798 | Missense_Mutation | G | A | p.L379F |
UO31_KIDNEY | 42736648 | 42736834 | 42736801 | 42736801 | Missense_Mutation | C | T | p.A378T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GSK3A |
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 GSK3A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GSK3A |
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RelatedDrugs for GSK3A |
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 |
P49840 | DB12010 | Fostamatinib | Glycogen synthase kinase-3 alpha | small molecule | approved|investigational |
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RelatedDiseases for GSK3A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
GSK3A | C0005586 | Bipolar Disorder | 1 | CTD_human |
GSK3A | C0011581 | Depressive disorder | 1 | CTD_human |
GSK3A | C0036341 | Schizophrenia | 1 | CTD_human |