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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 RGS7 |
Gene summary |
Gene information | Gene symbol | RGS7 | Gene ID | 6000 |
Gene name | regulator of G protein signaling 7 | |
Synonyms | - | |
Cytomap | 1q43|1q23.1 | |
Type of gene | protein-coding | |
Description | regulator of G-protein signaling 7regulator of G-protein signaling RGS7regulator of G-protein signalling 7 | |
Modification date | 20180522 | |
UniProtAcc | P49802 | |
Context | PubMed: RGS7 [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 |
RGS7 | GO:0043547 | positive regulation of GTPase activity | 10521509 |
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Exon skipping events across known transcript of Ensembl for RGS7 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 RGS7 |
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 RGS7 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_38417 | 1 | 240931553:240931578:240963940:240964021:240966203:240966293 | 240963940:240964021 | ENSG00000182901.11 | ENST00000331110.7 |
exon_skip_38418 | 1 | 240939462:240939513:240963940:240964021:240964754:240964808 | 240963940:240964021 | ENSG00000182901.11 | ENST00000440928.1 |
exon_skip_38419 | 1 | 240939462:240939513:240963940:240964021:240966203:240966293 | 240963940:240964021 | ENSG00000182901.11 | ENST00000366563.1,ENST00000348120.2,ENST00000446183.2 |
exon_skip_38420 | 1 | 240939462:240939513:240964754:240964808:240966203:240966293 | 240964754:240964808 | ENSG00000182901.11 | ENST00000366565.1 |
exon_skip_38421 | 1 | 240963946:240964021:240964754:240964808:240966203:240966293 | 240964754:240964808 | ENSG00000182901.11 | ENST00000440928.1,ENST00000407727.1 |
exon_skip_38422 | 1 | 240969439:240969626:240975217:240975343:240976917:240977028 | 240975217:240975343 | ENSG00000182901.11 | ENST00000440928.1,ENST00000366562.4,ENST00000407727.1,ENST00000366563.1,ENST00000348120.2,ENST00000366565.1,ENST00000331110.7,ENST00000366564.1,ENST00000446183.2,ENST00000401882.1 |
exon_skip_38423 | 1 | 240975217:240975343:240976917:240977028:240978015:240978077 | 240976917:240977028 | ENSG00000182901.11 | ENST00000440928.1,ENST00000366562.4,ENST00000407727.1,ENST00000366563.1,ENST00000348120.2,ENST00000366565.1,ENST00000331110.7,ENST00000366564.1,ENST00000446183.2,ENST00000401882.1 |
exon_skip_38424 | 1 | 241099899:241100006:241146378:241146429:241261965:241262062 | 241146378:241146429 | ENSG00000182901.11 | ENST00000366562.4,ENST00000407727.1,ENST00000366563.1,ENST00000366565.1,ENST00000331110.7,ENST00000366564.1 |
exon_skip_38425 | 1 | 241146378:241146429:241235772:241235930:241261965:241262062 | 241235772:241235930 | ENSG00000182901.11 | ENST00000446183.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RGS7 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_38417 | 1 | 240931553:240931578:240963940:240964021:240966203:240966293 | 240963940:240964021 | ENSG00000182901.11 | ENST00000331110.7 |
exon_skip_38418 | 1 | 240939462:240939513:240963940:240964021:240964754:240964808 | 240963940:240964021 | ENSG00000182901.11 | ENST00000440928.1 |
exon_skip_38419 | 1 | 240939462:240939513:240963940:240964021:240966203:240966293 | 240963940:240964021 | ENSG00000182901.11 | ENST00000348120.2,ENST00000366563.1,ENST00000446183.2 |
exon_skip_38420 | 1 | 240939462:240939513:240964754:240964808:240966203:240966293 | 240964754:240964808 | ENSG00000182901.11 | ENST00000366565.1 |
exon_skip_38421 | 1 | 240963946:240964021:240964754:240964808:240966203:240966293 | 240964754:240964808 | ENSG00000182901.11 | ENST00000440928.1,ENST00000407727.1 |
exon_skip_38422 | 1 | 240969439:240969626:240975217:240975343:240976917:240977028 | 240975217:240975343 | ENSG00000182901.11 | ENST00000331110.7,ENST00000440928.1,ENST00000348120.2,ENST00000366563.1,ENST00000366564.1,ENST00000366565.1,ENST00000446183.2,ENST00000366562.4,ENST00000407727.1,ENST00000401882.1 |
exon_skip_38423 | 1 | 240975217:240975343:240976917:240977028:240978015:240978077 | 240976917:240977028 | ENSG00000182901.11 | ENST00000331110.7,ENST00000440928.1,ENST00000348120.2,ENST00000366563.1,ENST00000366564.1,ENST00000366565.1,ENST00000446183.2,ENST00000366562.4,ENST00000407727.1,ENST00000401882.1 |
exon_skip_38424 | 1 | 241099899:241100006:241146378:241146429:241261965:241262062 | 241146378:241146429 | ENSG00000182901.11 | ENST00000331110.7,ENST00000366563.1,ENST00000366564.1,ENST00000366565.1,ENST00000366562.4,ENST00000407727.1 |
exon_skip_38425 | 1 | 241146378:241146429:241235772:241235930:241261965:241262062 | 241235772:241235930 | ENSG00000182901.11 | ENST00000446183.2 |
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 RGS7 |
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 RGS7 |
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 RGS7 |
- 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 |
STAD | TCGA-VQ-A8DT-01 | exon_skip_38422 | 240975218 | 240975343 | 240975304 | 240975304 | Frame_Shift_Del | A | - | p.F332fs |
STAD | TCGA-VQ-A8DT-01 | exon_skip_38422 | 240975218 | 240975343 | 240975304 | 240975304 | Frame_Shift_Del | A | - | p.G333fs |
LUAD | TCGA-78-7155-01 | exon_skip_38422 | 240975218 | 240975343 | 240975230 | 240975230 | Nonsense_Mutation | G | T | p.S357* |
HNSC | TCGA-CV-7432-01 | exon_skip_38422 | 240975218 | 240975343 | 240975267 | 240975267 | Nonsense_Mutation | C | A | p.E345* |
UCEC | TCGA-B5-A0JY-01 | exon_skip_38424 | 241146379 | 241146429 | 241146388 | 241146388 | Nonsense_Mutation | C | A | p.E73* |
UCEC | TCGA-AP-A059-01 | exon_skip_38423 | 240976918 | 240977028 | 240977029 | 240977029 | Splice_Site | C | A | e12-1 |
LUSC | TCGA-18-4083-01 | exon_skip_38424 | 241146379 | 241146429 | 241146430 | 241146430 | Splice_Site | C | T | p.G59_splice |
- 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 |
NCIH250_LUNG | 240976918 | 240977028 | 240976931 | 240976931 | Frame_Shift_Del | C | - | p.E315fs |
NUGC3_STOMACH | 240963941 | 240964021 | 240963955 | 240963955 | Missense_Mutation | G | T | p.L494M |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 240963941 | 240964021 | 240964012 | 240964012 | Missense_Mutation | T | G | p.I475L |
MM426_SKIN | 240975218 | 240975343 | 240975282 | 240975282 | Missense_Mutation | C | T | p.D340N |
SKMES1_LUNG | 240975218 | 240975343 | 240975314 | 240975314 | Missense_Mutation | C | T | p.R329Q |
DU145_PROSTATE | 240976918 | 240977028 | 240976990 | 240976990 | Missense_Mutation | G | T | p.P295Q |
NCIH2286_LUNG | 241146379 | 241146429 | 241146391 | 241146391 | Missense_Mutation | T | C | p.I72V |
COLO668_LUNG | 240976918 | 240977028 | 240976918 | 240976918 | Splice_Site | C | T | p.S319N |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 241146379 | 241146429 | 241146428 | 241146428 | Splice_Site | A | C | p.G59G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS7 |
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 RGS7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS7 |
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RelatedDrugs for RGS7 |
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 RGS7 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
RGS7 | C3714756 | Intellectual Disability | 1 | CTD_human |