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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 GNAQ |
 Gene summary |
| Gene information | Gene symbol | GNAQ | Gene ID | 2776 |
| Gene name | G protein subunit alpha q | |
| Synonyms | CMC1|G-ALPHA-q|GAQ|SWS | |
| Cytomap | 9q21.2 | |
| Type of gene | protein-coding | |
| Description | guanine nucleotide-binding protein G(q) subunit alphaguanine nucleotide binding protein (G protein), q polypeptideguanine nucleotide-binding protein alpha-q | |
| Modification date | 20180523 | |
| UniProtAcc | P50148 | |
| Context | PubMed: GNAQ [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 GNAQ 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 GNAQ |
| 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 GNAQ |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_504410 | 9 | 80335833:80336429:80343429:80343583:80409378:80409508 | 80343429:80343583 | ENSG00000156052.6 | ENST00000286548.4,ENST00000397476.3 |
| exon_skip_504414 | 9 | 80409378:80409508:80412435:80412564:80430531:80430686 | 80412435:80412564 | ENSG00000156052.6 | ENST00000286548.4,ENST00000397476.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GNAQ |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_504414 | 9 | 80409378:80409508:80412435:80412564:80430531:80430686 | 80412435:80412564 | ENSG00000156052.6 | ENST00000286548.4,ENST00000397476.3 |
| 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 GNAQ |
| 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 |
| ENST00000286548 | 80343429 | 80343583 | Frame-shift |
| ENST00000286548 | 80412435 | 80412564 | 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 |
| ENST00000286548 | 80412435 | 80412564 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GNAQ |
| 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 |
| ENST00000286548 | 6556 | 359 | 80412435 | 80412564 | 700 | 828 | 159 | 201 |
| 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 |
| ENST00000286548 | 6556 | 359 | 80412435 | 80412564 | 700 | 828 | 159 | 201 |
| 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 |
| P50148 | 159 | 201 | 1 | 359 | Chain | ID=PRO_0000203760;Note=Guanine nucleotide-binding protein G(q) subunit alpha |
| P50148 | 159 | 201 | 186 | 186 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P50148 | 159 | 201 | 183 | 183 | Modified residue | Note=ADP-ribosylarginine%3B by cholera toxin;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P50148 | 159 | 201 | 183 | 183 | Natural variant | ID=VAR_067270;Note=In SWS%3B found as somatic mosaic mutation in CMC%3B also found in melanocytomas sample%3B somatic mutation%3B shows significant activation of EPHB2 compared to control. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|Pu |
| P50148 | 159 | 201 | 180 | 186 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| P50148 | 159 | 201 | 1 | 359 | Chain | ID=PRO_0000203760;Note=Guanine nucleotide-binding protein G(q) subunit alpha |
| P50148 | 159 | 201 | 186 | 186 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P50148 | 159 | 201 | 183 | 183 | Modified residue | Note=ADP-ribosylarginine%3B by cholera toxin;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P50148 | 159 | 201 | 183 | 183 | Natural variant | ID=VAR_067270;Note=In SWS%3B found as somatic mosaic mutation in CMC%3B also found in melanocytomas sample%3B somatic mutation%3B shows significant activation of EPHB2 compared to control. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|Pu |
| P50148 | 159 | 201 | 180 | 186 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for GNAQ |
| - 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_504414 | 80412436 | 80412564 | 80412439 | 80412439 | Frame_Shift_Del | A | - | p.F201fs |
| LUAD | TCGA-44-8120-01 | exon_skip_504410 | 80343430 | 80343583 | 80343570 | 80343571 | Frame_Shift_Ins | - | CCTC | p.K250fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_504414 | 80412436 | 80412564 | 80412494 | 80412494 | Nonsense_Mutation | G | A | p.R183* |
| PAAD | TCGA-IB-7651-01 | exon_skip_504414 | 80412436 | 80412564 | 80412494 | 80412494 | Nonsense_Mutation | G | A | p.R183X |
| - 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 |
| HT115_LARGE_INTESTINE | 80343430 | 80343583 | 80343516 | 80343516 | Missense_Mutation | G | A | p.S268L |
| KON_UPPER_AERODIGESTIVE_TRACT | 80412436 | 80412564 | 80412450 | 80412450 | Missense_Mutation | T | G | p.Q197H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80412436 | 80412564 | 80412544 | 80412544 | Missense_Mutation | C | T | p.R166H |
| SNU81_LARGE_INTESTINE | 80412436 | 80412564 | 80412494 | 80412494 | Nonsense_Mutation | G | A | p.R183* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GNAQ |
| 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 GNAQ |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GNAQ |
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RelatedDrugs for GNAQ |
| 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 GNAQ |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GNAQ | C0220633 | Uveal melanoma | 3 | CTD_human;ORPHANET |
| GNAQ | C0038505 | Sturge-Weber Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| GNAQ | C0001925 | Albuminuria | 1 | CTD_human |
| GNAQ | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
| GNAQ | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
| GNAQ | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| GNAQ | C0025202 | melanoma | 1 | CTD_human |
| GNAQ | C0235752 | Port-Wine Stain | 1 | CTD_human;HPO;ORPHANET |
| GNAQ | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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