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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for RGS20 |
Gene summary |
Gene information | Gene symbol | RGS20 | Gene ID | 8601 |
Gene name | regulator of G protein signaling 20 | |
Synonyms | RGSZ1|ZGAP1|g(z)GAP|gz-GAP | |
Cytomap | 8q11.23 | |
Type of gene | protein-coding | |
Description | regulator of G-protein signaling 20gz-selective GTPase-activating proteinregulator of G-protein signaling 20 variant 2regulator of G-protein signaling Z1regulator of G-protein signalling 20regulator of Gz-selective protein signaling 1 | |
Modification date | 20180522 | |
UniProtAcc | O76081 | |
Context | PubMed: RGS20 [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 RGS20 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 RGS20 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RGS20 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_483564 | 8 | 54791817:54792162:54852135:54852284:54859224:54859308 | 54852135:54852284 | ENSG00000147509.9 | ENST00000297313.3 |
exon_skip_483572 | 8 | 54792559:54792846:54852135:54852284:54859224:54859308 | 54852135:54852284 | ENSG00000147509.9 | ENST00000523414.1 |
exon_skip_483578 | 8 | 54793460:54793644:54852135:54852284:54859224:54859308 | 54852135:54852284 | ENSG00000147509.9 | ENST00000276500.4 |
exon_skip_483581 | 8 | 54859224:54859308:54866635:54866870:54870829:54871257 | 54866635:54866870 | ENSG00000147509.9 | ENST00000344277.6,ENST00000522225.1,ENST00000517659.1,ENST00000276500.4,ENST00000517405.1,ENST00000297313.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RGS20 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_483559 | 8 | 54764459:54764624:54852135:54852284:54859224:54859308 | 54852135:54852284 | ENSG00000147509.9 | ENST00000344277.6 |
exon_skip_483564 | 8 | 54791817:54792162:54852135:54852284:54859224:54859308 | 54852135:54852284 | ENSG00000147509.9 | ENST00000297313.3 |
exon_skip_483572 | 8 | 54792559:54792846:54852135:54852284:54859224:54859308 | 54852135:54852284 | ENSG00000147509.9 | ENST00000523414.1 |
exon_skip_483578 | 8 | 54793460:54793644:54852135:54852284:54859224:54859308 | 54852135:54852284 | ENSG00000147509.9 | ENST00000276500.4 |
exon_skip_483581 | 8 | 54859224:54859308:54866635:54866870:54870829:54871257 | 54866635:54866870 | ENSG00000147509.9 | ENST00000297313.3,ENST00000517659.1,ENST00000344277.6,ENST00000522225.1,ENST00000276500.4,ENST00000517405.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RGS20 |
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 |
ENST00000297313 | 54852135 | 54852284 | Frame-shift |
ENST00000297313 | 54866635 | 54866870 | Frame-shift |
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 |
ENST00000297313 | 54852135 | 54852284 | Frame-shift |
ENST00000297313 | 54866635 | 54866870 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RGS20 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 RGS20 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
CHOL | TCGA-ZD-A8I3-01 | exon_skip_483564 exon_skip_483572 exon_skip_483578 | 54852136 | 54852284 | 54852270 | 54852270 | Nonsense_Mutation | T | A | p.C215* |
CHOL | TCGA-ZD-A8I3-01 | exon_skip_483564 exon_skip_483572 exon_skip_483578 | 54852136 | 54852284 | 54852270 | 54852270 | Nonsense_Mutation | T | A | p.C215X |
- 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 |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54852136 | 54852284 | 54852169 | 54852169 | Missense_Mutation | C | T | p.R182W |
CW2_LARGE_INTESTINE | 54852136 | 54852284 | 54852181 | 54852181 | Missense_Mutation | G | A | p.A186T |
EFM19_BREAST | 54852136 | 54852284 | 54852205 | 54852205 | Missense_Mutation | G | A | p.A194T |
EN_ENDOMETRIUM | 54852136 | 54852284 | 54852275 | 54852275 | Missense_Mutation | G | A | p.S217N |
SNU1040_LARGE_INTESTINE | 54866636 | 54866870 | 54866671 | 54866671 | Missense_Mutation | C | T | p.A260V |
SNU1040_LARGE_INTESTINE | 54866636 | 54866870 | 54866716 | 54866716 | Missense_Mutation | C | T | p.A275V |
PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT | 54866636 | 54866870 | 54866812 | 54866812 | Missense_Mutation | T | C | p.I307T |
PFSK1_CENTRAL_NERVOUS_SYSTEM | 54852136 | 54852284 | 54852136 | 54852136 | Splice_Site | C | A | p.Q171K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS20 |
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 RGS20 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS20 |
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RelatedDrugs for RGS20 |
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 RGS20 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
RGS20 | C0024809 | Marijuana Abuse | 1 | PSYGENET |