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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 GLE1 |
 Gene summary |
| Gene information | Gene symbol | GLE1 | Gene ID | 2733 |
| Gene name | GLE1, RNA export mediator | |
| Synonyms | GLE1L|LCCS|LCCS1|hGLE1 | |
| Cytomap | 9q34.11 | |
| Type of gene | protein-coding | |
| Description | nucleoporin GLE1GLE1 RNA export mediator homologGLE1 RNA export mediator-likeGLE1-like proteinGLE1-like, RNA export mediator | |
| Modification date | 20180523 | |
| UniProtAcc | Q53GS7 | |
| Context | PubMed: GLE1 [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 |
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Exon skipping events across known transcript of Ensembl for GLE1 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 GLE1 |
| 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 GLE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499739 | 9 | 131267084:131267183:131271154:131271376:131277807:131277918 | 131271154:131271376 | ENSG00000119392.10 | ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499746 | 9 | 131271154:131271376:131277807:131277918:131284946:131285095 | 131277807:131277918 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4 |
| exon_skip_499749 | 9 | 131277807:131277918:131284946:131285095:131285558:131285619 | 131284946:131285095 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4 |
| exon_skip_499751 | 9 | 131289457:131289570:131289734:131289804:131295791:131295928 | 131289734:131289804 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499754 | 9 | 131289734:131289804:131294943:131294970:131295791:131295928 | 131294943:131294970 | ENSG00000119392.10 | ENST00000494417.1 |
| exon_skip_499756 | 9 | 131289734:131289804:131295791:131295934:131296039:131296230 | 131295791:131295934 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499762 | 9 | 131298633:131298763:131300264:131300369:131301894:131301977 | 131300264:131300369 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499763 | 9 | 131300264:131300369:131301894:131301977:131302553:131302617 | 131301894:131301977 | ENSG00000119392.10 | ENST00000309971.4,ENST00000539582.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GLE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499739 | 9 | 131267084:131267183:131271154:131271376:131277807:131277918 | 131271154:131271376 | ENSG00000119392.10 | ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499746 | 9 | 131271154:131271376:131277807:131277918:131284946:131285095 | 131277807:131277918 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4 |
| exon_skip_499749 | 9 | 131277807:131277918:131284946:131285095:131285558:131285619 | 131284946:131285095 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4 |
| exon_skip_499751 | 9 | 131289457:131289570:131289734:131289804:131295791:131295928 | 131289734:131289804 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499754 | 9 | 131289734:131289804:131294943:131294970:131295791:131295928 | 131294943:131294970 | ENSG00000119392.10 | ENST00000494417.1 |
| exon_skip_499756 | 9 | 131289734:131289804:131295791:131295934:131296039:131296230 | 131295791:131295934 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499762 | 9 | 131298633:131298763:131300264:131300369:131301894:131301977 | 131300264:131300369 | ENSG00000119392.10 | ENST00000309971.4,ENST00000372770.4,ENST00000539582.1 |
| exon_skip_499763 | 9 | 131300264:131300369:131301894:131301977:131302553:131302617 | 131301894:131301977 | ENSG00000119392.10 | ENST00000309971.4,ENST00000539582.1 |
| 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 GLE1 |
| 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 |
| ENST00000309971 | 131284946 | 131285095 | Frame-shift |
| ENST00000309971 | 131289734 | 131289804 | Frame-shift |
| ENST00000309971 | 131295791 | 131295934 | Frame-shift |
| ENST00000309971 | 131301894 | 131301977 | Frame-shift |
| ENST00000309971 | 131277807 | 131277918 | In-frame |
| ENST00000309971 | 131300264 | 131300369 | 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 |
| ENST00000309971 | 131284946 | 131285095 | Frame-shift |
| ENST00000309971 | 131289734 | 131289804 | Frame-shift |
| ENST00000309971 | 131295791 | 131295934 | Frame-shift |
| ENST00000309971 | 131301894 | 131301977 | Frame-shift |
| ENST00000309971 | 131277807 | 131277918 | In-frame |
| ENST00000309971 | 131300264 | 131300369 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GLE1 |
| 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 |
| ENST00000309971 | 3338 | 698 | 131277807 | 131277918 | 428 | 538 | 107 | 144 |
| ENST00000309971 | 3338 | 698 | 131300264 | 131300369 | 1883 | 1987 | 592 | 627 |
| 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 |
| ENST00000309971 | 3338 | 698 | 131277807 | 131277918 | 428 | 538 | 107 | 144 |
| ENST00000309971 | 3338 | 698 | 131300264 | 131300369 | 1883 | 1987 | 592 | 627 |
| 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 |
| Q53GS7 | 107 | 144 | 1 | 698 | Chain | ID=PRO_0000204822;Note=Nucleoporin GLE1 |
| Q53GS7 | 107 | 144 | 130 | 130 | Natural variant | ID=VAR_024056;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852725,PMID:15489334 |
| Q53GS7 | 107 | 144 | 144 | 144 | Natural variant | ID=VAR_043874;Note=In LCCS1%3B allele Fin(Major)%3B does not affect subcellular localization. T->TPFQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204449;Dbxref=PMID:18204449 |
| Q53GS7 | 592 | 627 | 1 | 698 | Chain | ID=PRO_0000204822;Note=Nucleoporin GLE1 |
| Q53GS7 | 592 | 627 | 599 | 609 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B4F |
| Q53GS7 | 592 | 627 | 617 | 636 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B4F |
| Q53GS7 | 592 | 627 | 617 | 617 | Natural variant | ID=VAR_043876;Note=In LAAHD. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204449;Dbxref=dbSNP:rs121434408,PMID:18204449 |
| 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 |
| Q53GS7 | 107 | 144 | 1 | 698 | Chain | ID=PRO_0000204822;Note=Nucleoporin GLE1 |
| Q53GS7 | 107 | 144 | 130 | 130 | Natural variant | ID=VAR_024056;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852725,PMID:15489334 |
| Q53GS7 | 107 | 144 | 144 | 144 | Natural variant | ID=VAR_043874;Note=In LCCS1%3B allele Fin(Major)%3B does not affect subcellular localization. T->TPFQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204449;Dbxref=PMID:18204449 |
| Q53GS7 | 592 | 627 | 1 | 698 | Chain | ID=PRO_0000204822;Note=Nucleoporin GLE1 |
| Q53GS7 | 592 | 627 | 599 | 609 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B4F |
| Q53GS7 | 592 | 627 | 617 | 636 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6B4F |
| Q53GS7 | 592 | 627 | 617 | 617 | Natural variant | ID=VAR_043876;Note=In LAAHD. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204449;Dbxref=dbSNP:rs121434408,PMID:18204449 |
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SNVs in the skipped exons for GLE1 |
| - 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_499739 | 131271155 | 131271376 | 131271305 | 131271305 | Frame_Shift_Del | T | - | p.F84fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_499739 | 131271155 | 131271376 | 131271362 | 131271362 | Frame_Shift_Del | C | - | p.P103fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_499751 | 131289735 | 131289804 | 131289738 | 131289738 | Frame_Shift_Del | A | - | p.K417fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_499756 | 131295792 | 131295934 | 131295852 | 131295852 | Frame_Shift_Del | A | - | p.Q458fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_499756 | 131295792 | 131295934 | 131295886 | 131295886 | Frame_Shift_Del | C | - | p.N469fs |
| STAD | TCGA-BR-4191-01 | exon_skip_499756 | 131295792 | 131295934 | 131295922 | 131295937 | Frame_Shift_Del | AGAGAAATTTGTGGTG | - | p.481_485del |
| CESC | TCGA-C5-A1BJ-01 | exon_skip_499739 | 131271155 | 131271376 | 131271285 | 131271285 | Nonsense_Mutation | C | G | p.S77* |
| SKCM | TCGA-BF-AAP2-01 | exon_skip_499739 | 131271155 | 131271376 | 131271296 | 131271296 | Nonsense_Mutation | C | T | p.Q81* |
| LUAD | TCGA-17-Z015-01 | exon_skip_499739 | 131271155 | 131271376 | 131271368 | 131271368 | Nonsense_Mutation | G | T | p.G105* |
| BRCA | TCGA-A8-A092-01 | exon_skip_499746 | 131277808 | 131277918 | 131277847 | 131277847 | Nonsense_Mutation | C | T | p.Q121* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_499749 | 131284947 | 131285095 | 131285061 | 131285061 | Nonsense_Mutation | G | T | p.E183* |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131277808 | 131277918 | 131277857 | 131277857 | Frame_Shift_Del | G | - | p.R124fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131271155 | 131271376 | 131271255 | 131271255 | Missense_Mutation | C | T | p.S67F |
| COLO792_SKIN | 131271155 | 131271376 | 131271303 | 131271303 | Missense_Mutation | C | T | p.S83L |
| WM88_SKIN | 131271155 | 131271376 | 131271353 | 131271353 | Missense_Mutation | C | T | p.P100S |
| A1207_CENTRAL_NERVOUS_SYSTEM | 131277808 | 131277918 | 131277866 | 131277866 | Missense_Mutation | A | G | p.K127R |
| BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131284947 | 131285095 | 131284987 | 131284987 | Missense_Mutation | T | G | p.V158G |
| NCIH2141_LUNG | 131284947 | 131285095 | 131284987 | 131284987 | Missense_Mutation | T | G | p.V158G |
| NCIH841_LUNG | 131284947 | 131285095 | 131284987 | 131284987 | Missense_Mutation | T | G | p.V158G |
| SW1573_LUNG | 131284947 | 131285095 | 131284987 | 131284987 | Missense_Mutation | T | G | p.V158G |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131284947 | 131285095 | 131285023 | 131285023 | Missense_Mutation | A | C | p.K170T |
| HEC59_ENDOMETRIUM | 131289735 | 131289804 | 131289772 | 131289772 | Missense_Mutation | C | T | p.T427I |
| UACC893_BREAST | 131295792 | 131295934 | 131295797 | 131295797 | Missense_Mutation | A | C | p.K440Q |
| CW9019_SOFT_TISSUE | 131295792 | 131295934 | 131295864 | 131295864 | Missense_Mutation | G | A | p.R462H |
| IGR39_SKIN | 131295792 | 131295934 | 131295864 | 131295864 | Missense_Mutation | G | A | p.R462H |
| A388_SKIN | 131300265 | 131300369 | 131300274 | 131300274 | Missense_Mutation | C | G | p.H596D |
| HCC1569_BREAST | 131300265 | 131300369 | 131300362 | 131300362 | Missense_Mutation | T | C | p.F625S |
| MFE319_ENDOMETRIUM | 131301895 | 131301977 | 131301908 | 131301908 | Missense_Mutation | C | T | p.A632V |
| NCIH2023_LUNG | 131301895 | 131301977 | 131301926 | 131301926 | Missense_Mutation | A | G | p.Q638R |
| HMVII_SKIN | 131301895 | 131301977 | 131301939 | 131301939 | Missense_Mutation | G | T | p.W642C |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131300265 | 131300369 | 131300266 | 131300266 | Splice_Site | T | C | p.I593T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLE1 |
| 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 GLE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLE1 |
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RelatedDrugs for GLE1 |
| 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 |
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RelatedDiseases for GLE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GLE1 | C1854664 | LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | 1 | CTD_human;ORPHANET;UNIPROT |
| GLE1 | C2678471 | Lethal Arthrogryposis With Anterior Horn Cell Disease | 1 | CTD_human;ORPHANET;UNIPROT |
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