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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 GLI2 |
 Gene summary |
| Gene information | Gene symbol | GLI2 | Gene ID | 2736 |
| Gene name | GLI family zinc finger 2 | |
| Synonyms | CJS|HPE9|PHS2|THP1|THP2 | |
| Cytomap | 2q14.2 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein GLI2GLI family zinc finger protein 2GLI-Kruppel family member GLI2glioma-associated oncogene family zinc finger 2oncogene GLI2tax helper protein 1tax helper protein 2tax-responsive element-2 holding proteintax-responsive elemen | |
| Modification date | 20180520 | |
| UniProtAcc | P10070 | |
| Context | PubMed: GLI2 [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 |
| GLI2 | GO:0007224 | smoothened signaling pathway | 15994174 |
| GLI2 | GO:0008283 | cell proliferation | 15994174 |
| GLI2 | GO:0045740 | positive regulation of DNA replication | 12165851 |
| GLI2 | GO:0045893 | positive regulation of transcription, DNA-templated | 15175043 |
| GLI2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12165851|15994174 |
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Exon skipping events across known transcript of Ensembl for GLI2 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 GLI2 |
| 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 GLI2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329393 | 2 | 121493822:121493861:121554866:121555044:121684936:121685034 | 121554866:121555044 | ENSG00000074047.16 | ENST00000418323.1 |
| exon_skip_329398 | 2 | 121554920:121555044:121684936:121685042:121708818:121709021 | 121684936:121685042 | ENSG00000074047.16 | ENST00000361492.4,ENST00000452319.1,ENST00000435313.2,ENST00000482119.1,ENST00000314490.11,ENST00000472722.1 |
| exon_skip_329399 | 2 | 121684936:121685042:121708818:121709021:121712820:121713006 | 121708818:121709021 | ENSG00000074047.16 | ENST00000361492.4,ENST00000452319.1,ENST00000435313.2,ENST00000314490.11 |
| exon_skip_329402 | 2 | 121708818:121709021:121712820:121713006:121726289:121726491 | 121712820:121713006 | ENSG00000074047.16 | ENST00000361492.4,ENST00000452319.1,ENST00000435313.2,ENST00000314490.11,ENST00000433812.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GLI2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329393 | 2 | 121493822:121493861:121554866:121555044:121684936:121685034 | 121554866:121555044 | ENSG00000074047.16 | ENST00000418323.1 |
| exon_skip_329398 | 2 | 121554920:121555044:121684936:121685042:121708818:121709021 | 121684936:121685042 | ENSG00000074047.16 | ENST00000482119.1,ENST00000472722.1,ENST00000452319.1,ENST00000361492.4,ENST00000314490.11,ENST00000435313.2 |
| exon_skip_329402 | 2 | 121708818:121709021:121712820:121713006:121726289:121726491 | 121712820:121713006 | ENSG00000074047.16 | ENST00000452319.1,ENST00000361492.4,ENST00000314490.11,ENST00000435313.2,ENST00000433812.1 |
| 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 GLI2 |
| 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 GLI2 |
| 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 GLI2 |
| - 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-A1EG-01 | exon_skip_329398 | 121684937 | 121685042 | 121684969 | 121684969 | Frame_Shift_Del | C | - | p.P61fs |
| KIRC | TCGA-CJ-5681-01 | exon_skip_329398 | 121684937 | 121685042 | 121685023 | 121685026 | Frame_Shift_Del | TCTG | - | p.78_79del |
| DLBC | TCGA-FA-8693-01 | exon_skip_329399 | 121708819 | 121709021 | 121708820 | 121708820 | Frame_Shift_Del | C | - | p.G85fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_329399 | 121708819 | 121709021 | 121708914 | 121708914 | Frame_Shift_Del | C | - | p.A117fs |
| STAD | TCGA-CG-4465-01 | exon_skip_329399 | 121708819 | 121709021 | 121708914 | 121708914 | Frame_Shift_Del | C | - | p.A117fs |
| BLCA | TCGA-XF-AAN7-01 | exon_skip_329399 | 121708819 | 121709021 | 121708942 | 121708942 | Frame_Shift_Del | G | - | p.M126fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_329402 | 121712821 | 121713006 | 121712875 | 121712875 | Frame_Shift_Del | C | - | p.T172fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_329402 | 121712821 | 121713006 | 121712878 | 121712878 | Frame_Shift_Del | C | - | p.T172fs |
| BLCA | TCGA-GV-A3QK-01 | exon_skip_329399 | 121708819 | 121709021 | 121708927 | 121708927 | Nonsense_Mutation | C | G | p.Y121* |
| - 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 |
| AN3CA_ENDOMETRIUM | 121554867 | 121555044 | 121554984 | 121554984 | Frame_Shift_Del | A | - | p.K31fs |
| TGBC11TKB_STOMACH | 121554867 | 121555044 | 121554984 | 121554984 | Frame_Shift_Del | A | - | p.K31fs |
| JHUEM2_ENDOMETRIUM | 121708819 | 121709021 | 121708914 | 121708914 | Frame_Shift_Del | C | - | p.A117fs |
| SNU1040_LARGE_INTESTINE | 121554867 | 121555044 | 121554927 | 121554927 | Missense_Mutation | G | A | p.E11K |
| HEC251_ENDOMETRIUM | 121554867 | 121555044 | 121554943 | 121554943 | Missense_Mutation | A | G | p.K16R |
| HCT15_LARGE_INTESTINE | 121554867 | 121555044 | 121554979 | 121554979 | Missense_Mutation | C | A | p.P28Q |
| RL952_ENDOMETRIUM | 121554867 | 121555044 | 121555023 | 121555023 | Missense_Mutation | G | A | p.A43T |
| BICR10_UPPER_AERODIGESTIVE_TRACT | 121684937 | 121685042 | 121684981 | 121684981 | Missense_Mutation | G | A | p.D65N |
| NCIH835_LUNG | 121708819 | 121709021 | 121708853 | 121708853 | Missense_Mutation | G | A | p.D97N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121708819 | 121709021 | 121708884 | 121708884 | Missense_Mutation | C | T | p.P107L |
| A1207_CENTRAL_NERVOUS_SYSTEM | 121708819 | 121709021 | 121708895 | 121708895 | Missense_Mutation | G | T | p.G111W |
| SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121708819 | 121709021 | 121708919 | 121708919 | Missense_Mutation | C | A | p.H119N |
| NCIH1092_LUNG | 121708819 | 121709021 | 121709012 | 121709012 | Missense_Mutation | C | T | p.P150S |
| NCIH2347_LUNG | 121712821 | 121713006 | 121712886 | 121712886 | Missense_Mutation | G | C | p.D175H |
| NCIH838_LUNG | 121712821 | 121713006 | 121712903 | 121712903 | Missense_Mutation | G | T | p.M180I |
| NCIH2023_LUNG | 121712821 | 121713006 | 121712959 | 121712959 | Missense_Mutation | G | T | p.G199V |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121684937 | 121685042 | 121685042 | 121685042 | Splice_Site | G | A | p.G85E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLI2 |
| 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 GLI2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLI2 |
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RelatedDrugs for GLI2 |
| 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 GLI2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GLI2 | C4014479 | CULLER-JONES SYNDROME | 2 | ORPHANET;UNIPROT |
| GLI2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| GLI2 | C0004779 | Basal Cell Nevus Syndrome | 1 | CTD_human |
| GLI2 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| GLI2 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| GLI2 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| GLI2 | C1835819 | PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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