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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for RGS7

check button Gene summary
Gene informationGene symbol

RGS7

Gene ID

6000

Gene nameregulator of G protein signaling 7
Synonyms-
Cytomap

1q43|1q23.1

Type of geneprotein-coding
Descriptionregulator of G-protein signaling 7regulator of G-protein signaling RGS7regulator of G-protein signalling 7
Modification date20180522
UniProtAcc

P49802

ContextPubMed: RGS7 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for RGS7

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for RGS7

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_384171240931553:240931578:240963940:240964021:240966203:240966293240963940:240964021ENSG00000182901.11ENST00000331110.7
exon_skip_384181240939462:240939513:240963940:240964021:240964754:240964808240963940:240964021ENSG00000182901.11ENST00000440928.1
exon_skip_384191240939462:240939513:240963940:240964021:240966203:240966293240963940:240964021ENSG00000182901.11ENST00000366563.1,ENST00000348120.2,ENST00000446183.2
exon_skip_384201240939462:240939513:240964754:240964808:240966203:240966293240964754:240964808ENSG00000182901.11ENST00000366565.1
exon_skip_384211240963946:240964021:240964754:240964808:240966203:240966293240964754:240964808ENSG00000182901.11ENST00000440928.1,ENST00000407727.1
exon_skip_384221240969439:240969626:240975217:240975343:240976917:240977028240975217:240975343ENSG00000182901.11ENST00000440928.1,ENST00000366562.4,ENST00000407727.1,ENST00000366563.1,ENST00000348120.2,ENST00000366565.1,ENST00000331110.7,ENST00000366564.1,ENST00000446183.2,ENST00000401882.1
exon_skip_384231240975217:240975343:240976917:240977028:240978015:240978077240976917:240977028ENSG00000182901.11ENST00000440928.1,ENST00000366562.4,ENST00000407727.1,ENST00000366563.1,ENST00000348120.2,ENST00000366565.1,ENST00000331110.7,ENST00000366564.1,ENST00000446183.2,ENST00000401882.1
exon_skip_384241241099899:241100006:241146378:241146429:241261965:241262062241146378:241146429ENSG00000182901.11ENST00000366562.4,ENST00000407727.1,ENST00000366563.1,ENST00000366565.1,ENST00000331110.7,ENST00000366564.1
exon_skip_384251241146378:241146429:241235772:241235930:241261965:241262062241235772:241235930ENSG00000182901.11ENST00000446183.2

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for RGS7

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_384171240931553:240931578:240963940:240964021:240966203:240966293240963940:240964021ENSG00000182901.11ENST00000331110.7
exon_skip_384181240939462:240939513:240963940:240964021:240964754:240964808240963940:240964021ENSG00000182901.11ENST00000440928.1
exon_skip_384191240939462:240939513:240963940:240964021:240966203:240966293240963940:240964021ENSG00000182901.11ENST00000348120.2,ENST00000366563.1,ENST00000446183.2
exon_skip_384201240939462:240939513:240964754:240964808:240966203:240966293240964754:240964808ENSG00000182901.11ENST00000366565.1
exon_skip_384211240963946:240964021:240964754:240964808:240966203:240966293240964754:240964808ENSG00000182901.11ENST00000440928.1,ENST00000407727.1
exon_skip_384221240969439:240969626:240975217:240975343:240976917:240977028240975217:240975343ENSG00000182901.11ENST00000331110.7,ENST00000440928.1,ENST00000348120.2,ENST00000366563.1,ENST00000366564.1,ENST00000366565.1,ENST00000446183.2,ENST00000366562.4,ENST00000407727.1,ENST00000401882.1
exon_skip_384231240975217:240975343:240976917:240977028:240978015:240978077240976917:240977028ENSG00000182901.11ENST00000331110.7,ENST00000440928.1,ENST00000348120.2,ENST00000366563.1,ENST00000366564.1,ENST00000366565.1,ENST00000446183.2,ENST00000366562.4,ENST00000407727.1,ENST00000401882.1
exon_skip_384241241099899:241100006:241146378:241146429:241261965:241262062241146378:241146429ENSG00000182901.11ENST00000331110.7,ENST00000366563.1,ENST00000366564.1,ENST00000366565.1,ENST00000366562.4,ENST00000407727.1
exon_skip_384251241146378:241146429:241235772:241235930:241261965:241262062241235772:241235930ENSG00000182901.11ENST00000446183.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for RGS7

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

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Infer the effects of exon skipping event on protein functional features for RGS7

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button 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 featureDescription of feature


check button 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 featureDescription of feature


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SNVs in the skipped exons for RGS7

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
STADTCGA-VQ-A8DT-01exon_skip_38422
240975218240975343240975304240975304Frame_Shift_DelA-p.F332fs
STADTCGA-VQ-A8DT-01exon_skip_38422
240975218240975343240975304240975304Frame_Shift_DelA-p.G333fs
LUADTCGA-78-7155-01exon_skip_38422
240975218240975343240975230240975230Nonsense_MutationGTp.S357*
HNSCTCGA-CV-7432-01exon_skip_38422
240975218240975343240975267240975267Nonsense_MutationCAp.E345*
UCECTCGA-B5-A0JY-01exon_skip_38424
241146379241146429241146388241146388Nonsense_MutationCAp.E73*
UCECTCGA-AP-A059-01exon_skip_38423
240976918240977028240977029240977029Splice_SiteCAe12-1
LUSCTCGA-18-4083-01exon_skip_38424
241146379241146429241146430241146430Splice_SiteCTp.G59_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH250_LUNG240976918240977028240976931240976931Frame_Shift_DelC-p.E315fs
NUGC3_STOMACH240963941240964021240963955240963955Missense_MutationGTp.L494M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE240963941240964021240964012240964012Missense_MutationTGp.I475L
MM426_SKIN240975218240975343240975282240975282Missense_MutationCTp.D340N
SKMES1_LUNG240975218240975343240975314240975314Missense_MutationCTp.R329Q
DU145_PROSTATE240976918240977028240976990240976990Missense_MutationGTp.P295Q
NCIH2286_LUNG241146379241146429241146391241146391Missense_MutationTCp.I72V
COLO668_LUNG240976918240977028240976918240976918Splice_SiteCTp.S319N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE241146379241146429241146428241146428Splice_SiteACp.G59G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS7

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA 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

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RGS7

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
RGS7C3714756Intellectual Disability1CTD_human