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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for GSK3B |
 Gene summary |
| Gene information | Gene symbol | GSK3B | Gene ID | 2932 |
| Gene name | glycogen synthase kinase 3 beta | |
| Synonyms | - | |
| Cytomap | 3q13.33 | |
| Type of gene | protein-coding | |
| Description | glycogen synthase kinase-3 betaGSK-3 betaGSK3beta isoformserine/threonine-protein kinase GSK3B | |
| Modification date | 20180527 | |
| UniProtAcc | P49841 | |
| Context | PubMed: GSK3B [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 |
| GSK3B | GO:0005977 | glycogen metabolic process | 8638126 |
| GSK3B | GO:0006468 | protein phosphorylation | 11035810|16315267|20937854 |
| GSK3B | GO:0006983 | ER overload response | 14744935 |
| GSK3B | GO:0018105 | peptidyl-serine phosphorylation | 8638126|11104755|11955436|14744935|17139249 |
| GSK3B | GO:0018107 | peptidyl-threonine phosphorylation | 11955436|17139249|25897075 |
| GSK3B | GO:0031175 | neuron projection development | 19830702 |
| GSK3B | GO:0031334 | positive regulation of protein complex assembly | 8638126 |
| GSK3B | GO:0032091 | negative regulation of protein binding | 16890161 |
| GSK3B | GO:0035556 | intracellular signal transduction | 14749367 |
| GSK3B | GO:0043066 | negative regulation of apoptotic process | 14744935 |
| GSK3B | GO:0046777 | protein autophosphorylation | 23184662 |
| GSK3B | GO:0046827 | positive regulation of protein export from nucleus | 14744935 |
| GSK3B | GO:0060070 | canonical Wnt signaling pathway | 18787224 |
| GSK3B | GO:1901215 | negative regulation of neuron death | 19830702 |
| GSK3B | GO:1901216 | positive regulation of neuron death | 18508033 |
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Exon skipping events across known transcript of Ensembl for GSK3B 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 GSK3B |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GSK3B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386822 | 3 | 119545547:119545702:119562101:119562200:119582265:119582452 | 119562101:119562200 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386824 | 3 | 119545547:119545702:119582265:119582452:119595259:119595355 | 119582265:119582452 | ENSG00000082701.10 | ENST00000473886.1 |
| exon_skip_386825 | 3 | 119562101:119562200:119582265:119582452:119595259:119595355 | 119582265:119582452 | ENSG00000082701.10 | ENST00000264235.8 |
| exon_skip_386830 | 3 | 119582265:119582452:119585436:119585475:119595259:119595355 | 119585436:119585475 | ENSG00000082701.10 | ENST00000316626.5 |
| exon_skip_386831 | 3 | 119582265:119582452:119595259:119595355:119624601:119624699 | 119595259:119595355 | ENSG00000082701.10 | ENST00000264235.8 |
| exon_skip_386832 | 3 | 119595259:119595355:119624601:119624699:119631550:119631657 | 119624601:119624699 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386837 | 3 | 119624601:119624699:119631550:119631657:119634890:119635021 | 119631550:119631657 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386838 | 3 | 119634890:119635021:119642219:119642330:119666114:119666198 | 119642219:119642330 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386839 | 3 | 119642219:119642330:119666114:119666198:119720892:119721086 | 119666114:119666198 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386841 | 3 | 119666114:119666198:119720892:119721086:119812193:119812513 | 119720892:119721086 | ENSG00000082701.10 | ENST00000316626.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GSK3B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386822 | 3 | 119545547:119545702:119562101:119562200:119582265:119582452 | 119562101:119562200 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386824 | 3 | 119545547:119545702:119582265:119582452:119595259:119595355 | 119582265:119582452 | ENSG00000082701.10 | ENST00000473886.1 |
| exon_skip_386825 | 3 | 119562101:119562200:119582265:119582452:119595259:119595355 | 119582265:119582452 | ENSG00000082701.10 | ENST00000264235.8 |
| exon_skip_386830 | 3 | 119582265:119582452:119585436:119585475:119595259:119595355 | 119585436:119585475 | ENSG00000082701.10 | ENST00000316626.5 |
| exon_skip_386831 | 3 | 119582265:119582452:119595259:119595355:119624601:119624699 | 119595259:119595355 | ENSG00000082701.10 | ENST00000264235.8 |
| exon_skip_386832 | 3 | 119595259:119595355:119624601:119624699:119631550:119631657 | 119624601:119624699 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386837 | 3 | 119624601:119624699:119631550:119631657:119634890:119635021 | 119631550:119631657 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386838 | 3 | 119634890:119635021:119642219:119642330:119666114:119666198 | 119642219:119642330 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386839 | 3 | 119642219:119642330:119666114:119666198:119720892:119721086 | 119666114:119666198 | ENSG00000082701.10 | ENST00000264235.8,ENST00000316626.5 |
| exon_skip_386841 | 3 | 119666114:119666198:119720892:119721086:119812193:119812513 | 119720892:119721086 | ENSG00000082701.10 | ENST00000316626.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for GSK3B |
| 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 |
| ENST00000264235 | 119582265 | 119582452 | Frame-shift |
| ENST00000264235 | 119624601 | 119624699 | Frame-shift |
| ENST00000264235 | 119631550 | 119631657 | Frame-shift |
| ENST00000264235 | 119562101 | 119562200 | In-frame |
| ENST00000264235 | 119595259 | 119595355 | In-frame |
| ENST00000264235 | 119642219 | 119642330 | In-frame |
| ENST00000264235 | 119666114 | 119666198 | In-frame |
| 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 |
| ENST00000264235 | 119582265 | 119582452 | Frame-shift |
| ENST00000264235 | 119624601 | 119624699 | Frame-shift |
| ENST00000264235 | 119631550 | 119631657 | Frame-shift |
| ENST00000264235 | 119562101 | 119562200 | In-frame |
| ENST00000264235 | 119595259 | 119595355 | In-frame |
| ENST00000264235 | 119642219 | 119642330 | In-frame |
| ENST00000264235 | 119666114 | 119666198 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GSK3B |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000264235 | 7728 | 420 | 119666114 | 119666198 | 1266 | 1349 | 94 | 122 |
| ENST00000264235 | 7728 | 420 | 119642219 | 119642330 | 1350 | 1460 | 122 | 159 |
| ENST00000264235 | 7728 | 420 | 119595259 | 119595355 | 1797 | 1892 | 271 | 303 |
| ENST00000264235 | 7728 | 420 | 119562101 | 119562200 | 2080 | 2178 | 365 | 398 |
| 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 |
| ENST00000264235 | 7728 | 420 | 119666114 | 119666198 | 1266 | 1349 | 94 | 122 |
| ENST00000264235 | 7728 | 420 | 119642219 | 119642330 | 1350 | 1460 | 122 | 159 |
| ENST00000264235 | 7728 | 420 | 119595259 | 119595355 | 1797 | 1892 | 271 | 303 |
| ENST00000264235 | 7728 | 420 | 119562101 | 119562200 | 2080 | 2178 | 365 | 398 |
| 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 |
| P49841 | 94 | 122 | 112 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 94 | 122 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 94 | 122 | 56 | 340 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P49841 | 94 | 122 | 96 | 102 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 94 | 122 | 96 | 96 | Mutagenesis | Note=Prevents the phosphorylation of phosphate-primed glycogen synthase. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11430833;Dbxref=PMID:11430833 |
| P49841 | 94 | 122 | 121 | 124 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 125 | 133 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 136 | 138 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q5K |
| P49841 | 122 | 159 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 122 | 159 | 56 | 340 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P49841 | 122 | 159 | 139 | 148 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 155 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 128 | 128 | Mutagenesis | Note=Abolishes activity toward AXIN1. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11430833;Dbxref=PMID:11430833 |
| P49841 | 122 | 159 | 121 | 124 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 271 | 303 | 303 | 303 | Alternative sequence | ID=VSP_004790;Note=In isoform 2. K->KDSSGTGHFTSGVR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P49841 | 271 | 303 | 289 | 291 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ACC |
| P49841 | 271 | 303 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 271 | 303 | 56 | 340 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P49841 | 271 | 303 | 262 | 273 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 271 | 303 | 278 | 284 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 271 | 303 | 286 | 288 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NM3 |
| P49841 | 271 | 303 | 301 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 365 | 398 | 364 | 367 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 371 | 373 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 374 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 389 | 389 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WV60 |
| P49841 | 365 | 398 | 390 | 390 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| P49841 | 365 | 398 | 380 | 383 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| 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 |
| P49841 | 94 | 122 | 112 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 94 | 122 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 94 | 122 | 56 | 340 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P49841 | 94 | 122 | 96 | 102 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 94 | 122 | 96 | 96 | Mutagenesis | Note=Prevents the phosphorylation of phosphate-primed glycogen synthase. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11430833;Dbxref=PMID:11430833 |
| P49841 | 94 | 122 | 121 | 124 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 125 | 133 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 136 | 138 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Q5K |
| P49841 | 122 | 159 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 122 | 159 | 56 | 340 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P49841 | 122 | 159 | 139 | 148 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 155 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 122 | 159 | 128 | 128 | Mutagenesis | Note=Abolishes activity toward AXIN1. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11430833;Dbxref=PMID:11430833 |
| P49841 | 122 | 159 | 121 | 124 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 271 | 303 | 303 | 303 | Alternative sequence | ID=VSP_004790;Note=In isoform 2. K->KDSSGTGHFTSGVR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P49841 | 271 | 303 | 289 | 291 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ACC |
| P49841 | 271 | 303 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 271 | 303 | 56 | 340 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P49841 | 271 | 303 | 262 | 273 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 271 | 303 | 278 | 284 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 271 | 303 | 286 | 288 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NM3 |
| P49841 | 271 | 303 | 301 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 1 | 420 | Chain | ID=PRO_0000085980;Note=Glycogen synthase kinase-3 beta |
| P49841 | 365 | 398 | 364 | 367 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 371 | 373 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 374 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
| P49841 | 365 | 398 | 389 | 389 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WV60 |
| P49841 | 365 | 398 | 390 | 390 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| P49841 | 365 | 398 | 380 | 383 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1J1B |
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SNVs in the skipped exons for GSK3B |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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-A39Y-01 | exon_skip_386822 | 119562102 | 119562200 | 119562124 | 119562124 | Frame_Shift_Del | G | - | p.P391fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_386822 | 119562102 | 119562200 | 119562124 | 119562124 | Frame_Shift_Del | G | - | p.P391fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_386824 exon_skip_386825 | 119582266 | 119582452 | 119582342 | 119582342 | Frame_Shift_Del | A | - | p.F340fs |
| UCEC | TCGA-BG-A0MG-01 | exon_skip_386824 exon_skip_386825 | 119582266 | 119582452 | 119582341 | 119582342 | Frame_Shift_Ins | - | A | p.F340fs |
| KIRP | TCGA-A4-8516-01 | exon_skip_386824 exon_skip_386825 | 119582266 | 119582452 | 119582397 | 119582398 | Frame_Shift_Ins | - | C | p.V322fs |
| BLCA | TCGA-FD-A5BV-01 | exon_skip_386824 exon_skip_386825 | 119582266 | 119582452 | 119582338 | 119582338 | Nonsense_Mutation | C | A | p.E342* |
| LUAD | TCGA-55-8506-01 | exon_skip_386824 exon_skip_386825 | 119582266 | 119582452 | 119582446 | 119582446 | Nonsense_Mutation | G | A | p.R306* |
| UCEC | TCGA-AP-A056-01 | exon_skip_386831 | 119595260 | 119595355 | 119595266 | 119595266 | Nonsense_Mutation | C | T | p.W301* |
| ESCA | TCGA-JY-A93D-01 | exon_skip_386832 | 119624602 | 119624699 | 119624622 | 119624622 | Nonsense_Mutation | G | A | p.Q265* |
| ESCA | TCGA-JY-A93D-01 | exon_skip_386832 | 119624602 | 119624699 | 119624622 | 119624622 | Nonsense_Mutation | G | A | p.Q265X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_386839 | 119666115 | 119666198 | 119666150 | 119666150 | Nonsense_Mutation | G | A | p.R111* |
| READ | TCGA-F5-6814-01 | exon_skip_386841 | 119720893 | 119721086 | 119720937 | 119720937 | Nonsense_Mutation | C | A | p.E80X |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_386841 | 119720893 | 119721086 | 119720937 | 119720937 | Nonsense_Mutation | C | A | p.E80* |
| ESCA | TCGA-VR-A8EP-01 | exon_skip_386832 | 119624602 | 119624699 | 119624601 | 119624601 | Splice_Site | C | A | . |
| STAD | TCGA-BR-4292-01 | exon_skip_386837 | 119631551 | 119631657 | 119631658 | 119631658 | Splice_Site | C | G | . |
| STAD | TCGA-BR-4292-01 | exon_skip_386837 | 119631551 | 119631657 | 119631658 | 119631658 | Splice_Site | C | G | p.S203_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 |
| CAL12T_LUNG | 119562102 | 119562200 | 119562107 | 119562107 | Missense_Mutation | G | A | p.A397V |
| SKCO1_LARGE_INTESTINE | 119562102 | 119562200 | 119562162 | 119562162 | Missense_Mutation | G | A | p.P379S |
| MDST8_LARGE_INTESTINE | 119582266 | 119582452 | 119582445 | 119582445 | Missense_Mutation | C | T | p.R306Q |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 119582266 | 119582452 | 119582449 | 119582449 | Missense_Mutation | A | G | p.F305L |
| COLO205_LARGE_INTESTINE | 119631551 | 119631657 | 119631579 | 119631579 | Missense_Mutation | A | C | p.F229L |
| COGE352_BONE | 119631551 | 119631657 | 119631652 | 119631652 | Missense_Mutation | T | C | p.K205R |
| HEC251_ENDOMETRIUM | 119642220 | 119642330 | 119642242 | 119642242 | Missense_Mutation | G | A | p.T152M |
| HEC251_ENDOMETRIUM | 119642220 | 119642330 | 119642312 | 119642312 | Missense_Mutation | T | C | p.N129D |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 119642220 | 119642330 | 119642321 | 119642321 | Missense_Mutation | C | T | p.V126I |
| JHUEM7_ENDOMETRIUM | 119720893 | 119721086 | 119720900 | 119720900 | Missense_Mutation | C | A | p.R92I |
| CA922_UPPER_AERODIGESTIVE_TRACT | 119720893 | 119721086 | 119720952 | 119720952 | Missense_Mutation | G | C | p.L75V |
| KM12_LARGE_INTESTINE | 119720893 | 119721086 | 119720981 | 119720981 | Missense_Mutation | C | T | p.G65E |
| LS180_LARGE_INTESTINE | 119720893 | 119721086 | 119721077 | 119721077 | Missense_Mutation | T | C | p.D33G |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 119582266 | 119582452 | 119582302 | 119582302 | Nonsense_Mutation | G | A | p.R354* |
| SNU1_STOMACH | 119582266 | 119582452 | 119582446 | 119582446 | Nonsense_Mutation | G | A | p.R306* |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 119666115 | 119666198 | 119666195 | 119666195 | Nonsense_Mutation | G | A | p.R96* |
| MB1_THYROID | 119720893 | 119721086 | 119720962 | 119720962 | Nonsense_Mutation | A | T | p.Y71* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GSK3B |
| 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 GSK3B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GSK3B |
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RelatedDrugs for GSK3B |
| 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 |
| P49841 | DB12010 | Fostamatinib | Glycogen synthase kinase-3 beta | small molecule | approved|investigational |
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RelatedDiseases for GSK3B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GSK3B | C0005586 | Bipolar Disorder | 6 | CTD_human;PSYGENET |
| GSK3B | C0011581 | Depressive disorder | 5 | CTD_human;PSYGENET |
| GSK3B | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| GSK3B | C0011570 | Mental Depression | 3 | PSYGENET |
| GSK3B | C0002395 | Alzheimer's Disease | 2 | CTD_human |
| GSK3B | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| GSK3B | C0525045 | Mood Disorders | 2 | PSYGENET |
| GSK3B | C0018800 | Cardiomegaly | 1 | CTD_human |
| GSK3B | C0018801 | Heart failure | 1 | CTD_human |
| GSK3B | C0020538 | Hypertensive disease | 1 | CTD_human |
| GSK3B | C0026846 | Muscular Atrophy | 1 | CTD_human |
| GSK3B | C0027051 | Myocardial Infarction | 1 | CTD_human |
| GSK3B | C0031154 | Peritonitis | 1 | CTD_human |
| GSK3B | C0036341 | Schizophrenia | 1 | CTD_human |
| GSK3B | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CTD_human |
| GSK3B | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| GSK3B | C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | 1 | CTD_human |
| GSK3B | C2609414 | Acute kidney injury | 1 | CTD_human |
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