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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 GLIS2 |
 Gene summary |
| Gene information | Gene symbol | GLIS2 | Gene ID | 84662 |
| Gene name | GLIS family zinc finger 2 | |
| Synonyms | NKL|NPHP7 | |
| Cytomap | 16p13.3 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein GLIS2GLI-similar 2Kruppel-like zinc finger protein GLIS2nephrocystin-7neuronal Krueppel-like protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BZE0 | |
| Context | PubMed: GLIS2 [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 GLIS2 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 GLIS2 |
| 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 GLIS2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_133012 | 16 | 4382224:4382453:4383347:4383520:4384801:4384978 | 4383347:4383520 | ENSG00000126603.4 | ENST00000433375.1,ENST00000262366.3 |
| exon_skip_133016 | 16 | 4383347:4383520:4384801:4384978:4385060:4385194 | 4384801:4384978 | ENSG00000126603.4 | ENST00000433375.1,ENST00000262366.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GLIS2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_133012 | 16 | 4382224:4382453:4383347:4383520:4384801:4384978 | 4383347:4383520 | ENSG00000126603.4 | ENST00000262366.3,ENST00000433375.1 |
| exon_skip_133016 | 16 | 4383347:4383520:4384801:4384978:4385060:4385194 | 4384801:4384978 | ENSG00000126603.4 | ENST00000262366.3,ENST00000433375.1 |
| 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 GLIS2 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for GLIS2 |
| 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 |
| 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 GLIS2 |
| - 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 |
| COAD | TCGA-AA-3663-01 | exon_skip_133016 | 4384802 | 4384978 | 4384871 | 4384871 | Frame_Shift_Del | G | - | p.S138fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_133016 | 4384802 | 4384978 | 4384871 | 4384871 | Frame_Shift_Del | G | - | p.S138fs |
| UCS | TCGA-N8-A56S-01 | exon_skip_133016 | 4384802 | 4384978 | 4384870 | 4384871 | Frame_Shift_Ins | - | G | p.SG138fs |
| - 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 |
| GP5D_LARGE_INTESTINE | 4384802 | 4384978 | 4384871 | 4384871 | Frame_Shift_Del | G | - | p.G140fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4384802 | 4384978 | 4384871 | 4384871 | Frame_Shift_Del | G | - | p.G140fs |
| SW48_LARGE_INTESTINE | 4384802 | 4384978 | 4384871 | 4384871 | Frame_Shift_Del | G | - | p.G140fs |
| CW2_LARGE_INTESTINE | 4384802 | 4384978 | 4384870 | 4384871 | Frame_Shift_Ins | - | G | p.G139fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4383348 | 4383520 | 4383357 | 4383357 | Missense_Mutation | T | C | p.L61P |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4383348 | 4383520 | 4383411 | 4383411 | Missense_Mutation | T | A | p.V79E |
| KPNSI9S_AUTONOMIC_GANGLIA | 4383348 | 4383520 | 4383476 | 4383476 | Missense_Mutation | G | A | p.E101K |
| P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4384802 | 4384978 | 4384817 | 4384817 | Missense_Mutation | C | T | p.R121C |
| JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4384802 | 4384978 | 4384817 | 4384817 | Missense_Mutation | C | T | p.R121C |
| SCABER_URINARY_TRACT | 4384802 | 4384978 | 4384818 | 4384818 | Missense_Mutation | G | A | p.R121H |
| HCC2450_LUNG | 4384802 | 4384978 | 4384883 | 4384883 | Missense_Mutation | C | T | p.H143Y |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 4384802 | 4384978 | 4384905 | 4384905 | Missense_Mutation | T | G | p.L150R |
| RKO_LARGE_INTESTINE | 4384802 | 4384978 | 4384962 | 4384962 | Missense_Mutation | T | C | p.V169A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLIS2 |
| 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 GLIS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLIS2 |
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RelatedDrugs for GLIS2 |
| 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 GLIS2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GLIS2 | C0022658 | Kidney Diseases | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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