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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 GLI3 |
 Gene summary |
| Gene information | Gene symbol | GLI3 | Gene ID | 2737 |
| Gene name | GLI family zinc finger 3 | |
| Synonyms | ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV | |
| Cytomap | 7p14.1 | |
| Type of gene | protein-coding | |
| Description | transcriptional activator GLI3GLI-Kruppel family member GLI3glioma-associated oncogene family zinc finger 3oncogene GLI3zinc finger protein GLI3 | |
| Modification date | 20180527 | |
| UniProtAcc | P10071 | |
| Context | PubMed: GLI3 [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 |
| GLI3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10693759|12435627|19084012 |
| GLI3 | GO:0045892 | negative regulation of transcription, DNA-templated | 12435627|16254602|19084012 |
| GLI3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17000779 |
| GLI3 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 17331723 |
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Exon skipping events across known transcript of Ensembl for GLI3 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 GLI3 |
| 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 GLI3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_474805 | 7 | 42007193:42007521:42011935:42012226:42017156:42017321 | 42011935:42012226 | ENSG00000106571.8 | ENST00000479210.1,ENST00000395925.3 |
| exon_skip_474808 | 7 | 42079636:42079838:42084982:42085129:42088089:42088295 | 42084982:42085129 | ENSG00000106571.8 | ENST00000479210.1,ENST00000395925.3 |
| exon_skip_474810 | 7 | 42116350:42116456:42187824:42188067:42262728:42262894 | 42187824:42188067 | ENSG00000106571.8 | ENST00000395925.3,ENST00000448703.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GLI3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_474805 | 7 | 42007193:42007521:42011935:42012226:42017156:42017321 | 42011935:42012226 | ENSG00000106571.8 | ENST00000395925.3,ENST00000479210.1 |
| exon_skip_474810 | 7 | 42116350:42116456:42187824:42188067:42262728:42262894 | 42187824:42188067 | ENSG00000106571.8 | ENST00000395925.3,ENST00000448703.1 |
| 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 GLI3 |
| 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 |
| ENST00000395925 | 42011935 | 42012226 | In-frame |
| ENST00000395925 | 42084982 | 42085129 | In-frame |
| ENST00000395925 | 42187824 | 42188067 | 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 |
| ENST00000395925 | 42011935 | 42012226 | In-frame |
| ENST00000395925 | 42187824 | 42188067 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GLI3 |
| 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 |
| ENST00000395925 | 8225 | 1580 | 42187824 | 42188067 | 210 | 452 | 41 | 122 |
| ENST00000395925 | 8225 | 1580 | 42084982 | 42085129 | 765 | 911 | 226 | 275 |
| ENST00000395925 | 8225 | 1580 | 42011935 | 42012226 | 1898 | 2188 | 604 | 701 |
| 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 |
| ENST00000395925 | 8225 | 1580 | 42187824 | 42188067 | 210 | 452 | 41 | 122 |
| ENST00000395925 | 8225 | 1580 | 42011935 | 42012226 | 1898 | 2188 | 604 | 701 |
| 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 |
| P10071 | 41 | 122 | 1 | 1580 | Chain | ID=PRO_0000047202;Note=Transcriptional activator GLI3 |
| P10071 | 226 | 275 | 1 | 1580 | Chain | ID=PRO_0000047202;Note=Transcriptional activator GLI3 |
| P10071 | 604 | 701 | 1 | 1580 | Chain | ID=PRO_0000047202;Note=Transcriptional activator GLI3 |
| P10071 | 604 | 701 | 664 | 664 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
| P10071 | 604 | 701 | 625 | 625 | Natural variant | ID=VAR_021481;Note=In GCPS. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12794692;Dbxref=dbSNP:rs121917712,PMID:12794692 |
| P10071 | 604 | 701 | 607 | 632 | Zinc finger | Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| 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 |
| P10071 | 41 | 122 | 1 | 1580 | Chain | ID=PRO_0000047202;Note=Transcriptional activator GLI3 |
| P10071 | 604 | 701 | 1 | 1580 | Chain | ID=PRO_0000047202;Note=Transcriptional activator GLI3 |
| P10071 | 604 | 701 | 664 | 664 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 |
| P10071 | 604 | 701 | 625 | 625 | Natural variant | ID=VAR_021481;Note=In GCPS. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12794692;Dbxref=dbSNP:rs121917712,PMID:12794692 |
| P10071 | 604 | 701 | 607 | 632 | Zinc finger | Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
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SNVs in the skipped exons for GLI3 |
| - 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_474810 | 42187825 | 42188067 | 42187991 | 42187991 | Frame_Shift_Del | C | - | p.G67fs |
| STAD | TCGA-FP-A9TM-01 | exon_skip_474805 | 42011936 | 42012226 | 42011986 | 42011986 | Nonsense_Mutation | T | A | p.K685X |
| COAD | TCGA-AY-6196-01 | exon_skip_474805 | 42011936 | 42012226 | 42012040 | 42012040 | Nonsense_Mutation | G | A | p.R667X |
| BRCA | TCGA-AO-A12G-01 | exon_skip_474808 | 42084983 | 42085129 | 42085091 | 42085091 | Nonsense_Mutation | G | A | p.Q240* |
| COAD | TCGA-AD-6889-01 | exon_skip_474810 | 42187825 | 42188067 | 42188011 | 42188011 | Nonsense_Mutation | G | A | p.Q61X |
| LIHC | TCGA-2Y-A9H3-01 | exon_skip_474805 | 42011936 | 42012226 | 42011935 | 42011935 | Splice_Site | C | A | . |
| - 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 |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42011936 | 42012226 | 42011947 | 42011947 | Missense_Mutation | C | T | p.E698K |
| KYSE140_OESOPHAGUS | 42011936 | 42012226 | 42011958 | 42011958 | Missense_Mutation | G | A | p.T694I |
| HEC1A_ENDOMETRIUM | 42011936 | 42012226 | 42012006 | 42012006 | Missense_Mutation | T | C | p.D678G |
| HEC1_ENDOMETRIUM | 42011936 | 42012226 | 42012006 | 42012006 | Missense_Mutation | T | C | p.D678G |
| HEC1B_ENDOMETRIUM | 42011936 | 42012226 | 42012006 | 42012006 | Missense_Mutation | T | C | p.D678G |
| SNU503_LARGE_INTESTINE | 42011936 | 42012226 | 42012039 | 42012039 | Missense_Mutation | C | A | p.R667L |
| FTC238_THYROID | 42011936 | 42012226 | 42012048 | 42012048 | Missense_Mutation | G | A | p.S664L |
| NCIH1573_LUNG | 42011936 | 42012226 | 42012081 | 42012081 | Missense_Mutation | G | A | p.P653L |
| KP2_PANCREAS | 42011936 | 42012226 | 42012093 | 42012093 | Missense_Mutation | C | T | p.R649Q |
| RERFLCFM_LUNG | 42011936 | 42012226 | 42012093 | 42012093 | Missense_Mutation | C | A | p.R649L |
| SW1990_PANCREAS | 42011936 | 42012226 | 42012111 | 42012111 | Missense_Mutation | C | T | p.R643Q |
| K029AX_SKIN | 42011936 | 42012226 | 42012123 | 42012123 | Missense_Mutation | G | A | p.T639I |
| SNU398_LIVER | 42011936 | 42012226 | 42012196 | 42012196 | Missense_Mutation | T | A | p.T615S |
| SARC9371_BONE | 42084983 | 42085129 | 42085067 | 42085067 | Missense_Mutation | G | A | p.R248C |
| SNU1079_BILIARY_TRACT | 42084983 | 42085129 | 42085121 | 42085121 | Missense_Mutation | C | A | p.A230S |
| SNU475_LIVER | 42187825 | 42188067 | 42187828 | 42187828 | Missense_Mutation | A | T | p.Y122N |
| NCIH1092_LUNG | 42187825 | 42188067 | 42187859 | 42187859 | Missense_Mutation | C | T | p.M111I |
| GAK_SKIN | 42187825 | 42188067 | 42188022 | 42188022 | Missense_Mutation | G | T | p.A57E |
| HT55_LARGE_INTESTINE | 42187825 | 42188067 | 42188023 | 42188023 | Missense_Mutation | C | T | p.A57T |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 42187825 | 42188067 | 42188023 | 42188023 | Missense_Mutation | C | T | p.A57T |
| SNU1077_ENDOMETRIUM | 42187825 | 42188067 | 42188023 | 42188023 | Missense_Mutation | C | T | p.A57T |
| IGROV1_OVARY | 42187825 | 42188067 | 42188023 | 42188023 | Missense_Mutation | C | T | p.A57T |
| NCIH650_LUNG | 42187825 | 42188067 | 42188052 | 42188052 | Missense_Mutation | C | A | p.G47V |
| HEC6_ENDOMETRIUM | 42011936 | 42012226 | 42012040 | 42012040 | Nonsense_Mutation | G | A | p.R667* |
| HCC2998_LARGE_INTESTINE | 42084983 | 42085129 | 42085103 | 42085103 | Nonsense_Mutation | C | A | p.E236* |
| EVSAT_BREAST | 42084983 | 42085129 | 42085128 | 42085128 | Splice_Site | C | T | p.A227A |
| KYSE220_OESOPHAGUS | 42187825 | 42188067 | 42187826 | 42187826 | Splice_Site | G | A | p.Y122Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GLI3 |
| 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 GLI3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GLI3 |
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RelatedDrugs for GLI3 |
| 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 GLI3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GLI3 | C0265306 | Greig cephalopolysyndactyly syndrome | 8 | CTD_human;ORPHANET;UNIPROT |
| GLI3 | C0265220 | Pallister-Hall syndrome | 2 | CTD_human;ORPHANET |
| GLI3 | C0027794 | Neural Tube Defects | 1 | CTD_human |
| GLI3 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| GLI3 | C0152427 | Polydactyly | 1 | CTD_human |
| GLI3 | C0162835 | Hypopigmentation disorder | 1 | CTD_human |
| GLI3 | C3887487 | Postaxial polydactyly type A | 1 | UNIPROT |
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