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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 GSG1L |
 Gene summary |
| Gene information | Gene symbol | GSG1L | Gene ID | 146395 |
| Gene name | GSG1 like | |
| Synonyms | PRO19651 | |
| Cytomap | 16p12.1 | |
| Type of gene | protein-coding | |
| Description | germ cell-specific gene 1-like proteinGSG1-like proteinKTSR5831 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6UXU4 | |
| Context | PubMed: GSG1L [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 GSG1L 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 GSG1L |
| 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 GSG1L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143356 | 16 | 27802690:27802788:27818807:27818875:27835182:27835236 | 27818807:27818875 | ENSG00000169181.8 | ENST00000380898.2,ENST00000569166.1 |
| exon_skip_143357 | 16 | 27802690:27802788:27818807:27818875:27840109:27840277 | 27818807:27818875 | ENSG00000169181.8 | ENST00000380897.3,ENST00000395724.3,ENST00000447459.2 |
| exon_skip_143359 | 16 | 27818807:27818875:27835182:27835236:27840109:27840277 | 27835182:27835236 | ENSG00000169181.8 | ENST00000380898.2,ENST00000569166.1 |
| exon_skip_143360 | 16 | 27818807:27818875:27840109:27840277:27856270:27856382 | 27840109:27840277 | ENSG00000169181.8 | ENST00000380897.3,ENST00000395724.3,ENST00000447459.2 |
| exon_skip_143362 | 16 | 27856270:27856382:27895806:27895959:27974476:27974524 | 27895806:27895959 | ENSG00000169181.8 | ENST00000380898.2,ENST00000447459.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GSG1L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143356 | 16 | 27802690:27802788:27818807:27818875:27835182:27835236 | 27818807:27818875 | ENSG00000169181.8 | ENST00000380898.2,ENST00000569166.1 |
| exon_skip_143357 | 16 | 27802690:27802788:27818807:27818875:27840109:27840277 | 27818807:27818875 | ENSG00000169181.8 | ENST00000447459.2,ENST00000395724.3,ENST00000380897.3 |
| exon_skip_143359 | 16 | 27818807:27818875:27835182:27835236:27840109:27840277 | 27835182:27835236 | ENSG00000169181.8 | ENST00000380898.2,ENST00000569166.1 |
| exon_skip_143360 | 16 | 27818807:27818875:27840109:27840277:27856270:27856382 | 27840109:27840277 | ENSG00000169181.8 | ENST00000447459.2,ENST00000395724.3,ENST00000380897.3 |
| exon_skip_143361 | 16 | 27856270:27856382:27861799:27861944:27895806:27895959 | 27861799:27861944 | ENSG00000169181.8 | ENST00000562611.1 |
| exon_skip_143362 | 16 | 27856270:27856382:27895806:27895959:27974476:27974524 | 27895806:27895959 | ENSG00000169181.8 | ENST00000380898.2,ENST00000447459.2 |
| 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 GSG1L |
| 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 |
| ENST00000447459 | 27818807 | 27818875 | Frame-shift |
| ENST00000447459 | 27840109 | 27840277 | In-frame |
| ENST00000447459 | 27895806 | 27895959 | 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 |
| ENST00000447459 | 27818807 | 27818875 | Frame-shift |
| ENST00000447459 | 27840109 | 27840277 | In-frame |
| ENST00000447459 | 27895806 | 27895959 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GSG1L |
| 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 |
| ENST00000447459 | 4933 | 331 | 27895806 | 27895959 | 483 | 635 | 132 | 183 |
| ENST00000447459 | 4933 | 331 | 27840109 | 27840277 | 748 | 915 | 221 | 276 |
| 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 |
| ENST00000447459 | 4933 | 331 | 27895806 | 27895959 | 483 | 635 | 132 | 183 |
| ENST00000447459 | 4933 | 331 | 27840109 | 27840277 | 748 | 915 | 221 | 276 |
| 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 |
| Q6UXU4 | 132 | 183 | 1 | 155 | Alternative sequence | ID=VSP_033516;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| Q6UXU4 | 132 | 183 | 133 | 183 | Alternative sequence | ID=VSP_033004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| Q6UXU4 | 132 | 183 | 1 | 331 | Chain | ID=PRO_0000329464;Note=Germ cell-specific gene 1-like protein |
| Q6UXU4 | 132 | 183 | 30 | 132 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 132 | 183 | 154 | 173 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 132 | 183 | 133 | 153 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 132 | 183 | 174 | 194 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 221 | 276 | 1 | 331 | Chain | ID=PRO_0000329464;Note=Germ cell-specific gene 1-like protein |
| Q6UXU4 | 221 | 276 | 239 | 331 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 221 | 276 | 218 | 238 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q6UXU4 | 132 | 183 | 1 | 155 | Alternative sequence | ID=VSP_033516;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| Q6UXU4 | 132 | 183 | 133 | 183 | Alternative sequence | ID=VSP_033004;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| Q6UXU4 | 132 | 183 | 1 | 331 | Chain | ID=PRO_0000329464;Note=Germ cell-specific gene 1-like protein |
| Q6UXU4 | 132 | 183 | 30 | 132 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 132 | 183 | 154 | 173 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 132 | 183 | 133 | 153 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 132 | 183 | 174 | 194 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 221 | 276 | 1 | 331 | Chain | ID=PRO_0000329464;Note=Germ cell-specific gene 1-like protein |
| Q6UXU4 | 221 | 276 | 239 | 331 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXU4 | 221 | 276 | 218 | 238 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for GSG1L |
| - 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-BC-A112-01 | exon_skip_143360 | 27840110 | 27840277 | 27840265 | 27840266 | Frame_Shift_Ins | - | C | p.V70fs |
| LUAD | TCGA-91-6835-01 | exon_skip_143360 | 27840110 | 27840277 | 27840114 | 27840114 | Nonsense_Mutation | C | A | p.E121* |
| LUAD | TCGA-91-6835-01 | exon_skip_143360 | 27840110 | 27840277 | 27840114 | 27840114 | Nonsense_Mutation | C | A | p.E276* |
| SKCM | TCGA-D3-A8GC-06 | exon_skip_143360 | 27840110 | 27840277 | 27840268 | 27840268 | Nonsense_Mutation | C | T | p.W69* |
| LUSC | TCGA-18-3416-01 | exon_skip_143357 exon_skip_143356 | 27818808 | 27818875 | 27818807 | 27818807 | Splice_Site | C | T | p.R300_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 |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27818808 | 27818875 | 27818814 | 27818814 | Missense_Mutation | G | T | p.P298T |
| NCIH250_LUNG | 27818808 | 27818875 | 27818831 | 27818831 | Missense_Mutation | C | A | p.C292F |
| DANG_PANCREAS | 27840110 | 27840277 | 27840195 | 27840195 | Missense_Mutation | G | A | p.R249W |
| HCC515_LUNG | 27895807 | 27895959 | 27895935 | 27895935 | Missense_Mutation | G | C | p.S141C |
| HEC108_ENDOMETRIUM | 27818808 | 27818875 | 27818808 | 27818808 | Splice_Site | G | A | p.R300* |
| NCIH358_LUNG | 27840110 | 27840277 | 27840276 | 27840276 | Splice_Site | G | T | p.L222M |
| NCIH358_LUNG | 27840110 | 27840277 | 27840276 | 27840277 | Splice_Site | GG | TT | p.221_222CL>*M |
| LNCAPCLONEFGC_PROSTATE | 27840110 | 27840277 | 27840277 | 27840277 | Splice_Site | G | A | p.C221C |
| NCIH358_LUNG | 27840110 | 27840277 | 27840277 | 27840277 | Splice_Site | G | T | p.C221* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GSG1L |
| 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 GSG1L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GSG1L |
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RelatedDrugs for GSG1L |
| 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 GSG1L |
| 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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