ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RGS22

Gene summary

Gene information	Gene symbol	RGS22
	Gene ID	26166
	Gene name	regulator of G protein signaling 22
	Synonyms	CT145\|PRTD-NY2
	Cytomap	8q22.2
	Type of gene	protein-coding
	Description	regulator of G-protein signaling 22
	Modification date	20180403
	UniProtAcc	Q8NE09
	Context	PubMed: RGS22 [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 RGS22 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 RGS22

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 RGS22

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_491205	8	100974621:100974671:100974914:100974995:100975112:100975206	100974914:100974995	ENSG00000132554.15	ENST00000523437.1,ENST00000523287.1,ENST00000517769.1,ENST00000360863.6
exon_skip_491206	8	100977562:100977658:100990144:100990303:100994164:100994344	100990144:100990303	ENSG00000132554.15	ENST00000523437.1,ENST00000523287.1,ENST00000517769.1,ENST00000360863.6
exon_skip_491207	8	100994164:100994344:100999685:100999847:101008689:101008758	100999685:100999847	ENSG00000132554.15	ENST00000523437.1,ENST00000523287.1,ENST00000517769.1,ENST00000360863.6
exon_skip_491208	8	101008689:101008758:101011489:101011648:101014429:101014592	101011489:101011648	ENSG00000132554.15	ENST00000523437.1,ENST00000523287.1,ENST00000517769.1,ENST00000360863.6
exon_skip_491210	8	101014549:101014592:101015162:101015274:101016153:101016326	101015162:101015274	ENSG00000132554.15	ENST00000519421.1
exon_skip_491211	8	101014549:101014592:101016153:101016326:101018244:101018337	101016153:101016326	ENSG00000132554.15	ENST00000523437.1,ENST00000523287.1,ENST00000517769.1,ENST00000517828.1,ENST00000360863.6
exon_skip_491212	8	101020724:101020797:101051158:101051260:101052189:101052315	101051158:101051260	ENSG00000132554.15	ENST00000523437.1,ENST00000519725.1,ENST00000523287.1,ENST00000517769.1,ENST00000360863.6
exon_skip_491217	8	101051158:101051260:101052189:101052315:101054029:101054144	101052189:101052315	ENSG00000132554.15	ENST00000523437.1,ENST00000518474.1,ENST00000519725.1,ENST00000523287.1,ENST00000517769.1,ENST00000520923.1,ENST00000360863.6
exon_skip_491218	8	101052189:101052315:101054029:101054144:101059690:101059824	101054029:101054144	ENSG00000132554.15	ENST00000523437.1,ENST00000519725.1,ENST00000523287.1,ENST00000520923.1,ENST00000360863.6
exon_skip_491219	8	101059690:101059824:101065029:101065204:101074818:101074980	101065029:101065204	ENSG00000132554.15	ENST00000523437.1,ENST00000523287.1,ENST00000520923.1,ENST00000360863.6
exon_skip_491220	8	101065029:101065204:101066561:101066651:101074818:101074980	101066561:101066651	ENSG00000132554.15	ENST00000519725.1
exon_skip_491221	8	101074818:101074980:101075643:101076271:101078394:101078524	101075643:101076271	ENSG00000132554.15	ENST00000523437.1,ENST00000519725.1,ENST00000523287.1,ENST00000520923.1,ENST00000360863.6
exon_skip_491223	8	101084372:101084458:101092361:101092583:101105674:101105737	101092361:101092583	ENSG00000132554.15	ENST00000523437.1,ENST00000519725.1,ENST00000519092.1,ENST00000360863.6,ENST00000519408.1
exon_skip_491227	8	101092522:101092583:101104105:101104215:101105674:101105737	101104105:101104215	ENSG00000132554.15	ENST00000523287.1
exon_skip_491228	8	101105674:101105737:101117601:101117630:101118124:101118190	101117601:101117630	ENSG00000132554.15	ENST00000523437.1,ENST00000519725.1,ENST00000518719.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RGS22

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_491205	8	100974621:100974671:100974914:100974995:100975112:100975206	100974914:100974995	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000517769.1,ENST00000523437.1
exon_skip_491206	8	100977562:100977658:100990144:100990303:100994164:100994344	100990144:100990303	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000517769.1,ENST00000523437.1
exon_skip_491207	8	100994164:100994344:100999685:100999847:101008689:101008758	100999685:100999847	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000517769.1,ENST00000523437.1
exon_skip_491208	8	101008689:101008758:101011489:101011648:101014429:101014592	101011489:101011648	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000517769.1,ENST00000523437.1
exon_skip_491210	8	101014549:101014592:101015162:101015274:101016153:101016326	101015162:101015274	ENSG00000132554.15	ENST00000519421.1
exon_skip_491211	8	101014549:101014592:101016153:101016326:101018244:101018337	101016153:101016326	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000517769.1,ENST00000523437.1,ENST00000517828.1
exon_skip_491217	8	101051158:101051260:101052189:101052315:101054029:101054144	101052189:101052315	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000517769.1,ENST00000523437.1,ENST00000519725.1,ENST00000520923.1,ENST00000518474.1
exon_skip_491218	8	101052189:101052315:101054029:101054144:101059690:101059824	101054029:101054144	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000523437.1,ENST00000519725.1,ENST00000520923.1
exon_skip_491219	8	101059690:101059824:101065029:101065204:101074818:101074980	101065029:101065204	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000523437.1,ENST00000520923.1
exon_skip_491220	8	101065029:101065204:101066561:101066651:101074818:101074980	101066561:101066651	ENSG00000132554.15	ENST00000519725.1
exon_skip_491221	8	101074818:101074980:101075643:101076271:101078394:101078524	101075643:101076271	ENSG00000132554.15	ENST00000360863.6,ENST00000523287.1,ENST00000523437.1,ENST00000519725.1,ENST00000520923.1
exon_skip_491223	8	101084372:101084458:101092361:101092583:101105674:101105737	101092361:101092583	ENSG00000132554.15	ENST00000360863.6,ENST00000523437.1,ENST00000519725.1,ENST00000519092.1,ENST00000519408.1
exon_skip_491225	8	101092522:101092583:101092882:101093076:101105674:101105737	101092882:101093076	ENSG00000132554.15	ENST00000522064.1
exon_skip_491227	8	101092522:101092583:101104105:101104215:101105674:101105737	101104105:101104215	ENSG00000132554.15	ENST00000523287.1
exon_skip_491228	8	101105674:101105737:101117601:101117630:101118124:101118190	101117601:101117630	ENSG00000132554.15	ENST00000523437.1,ENST00000519725.1,ENST00000518719.1

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 RGS22

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
ENST00000360863	101016153	101016326	Frame-shift
ENST00000360863	101054029	101054144	Frame-shift
ENST00000360863	101065029	101065204	Frame-shift
ENST00000360863	101075643	101076271	Frame-shift
ENST00000360863	100974914	100974995	In-frame
ENST00000360863	100990144	100990303	In-frame
ENST00000360863	100999685	100999847	In-frame
ENST00000360863	101011489	101011648	In-frame
ENST00000360863	101051158	101051260	In-frame
ENST00000360863	101052189	101052315	In-frame
ENST00000360863	101092361	101092583	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
ENST00000360863	101016153	101016326	Frame-shift
ENST00000360863	101054029	101054144	Frame-shift
ENST00000360863	101065029	101065204	Frame-shift
ENST00000360863	101075643	101076271	Frame-shift
ENST00000360863	100974914	100974995	In-frame
ENST00000360863	100990144	100990303	In-frame
ENST00000360863	100999685	100999847	In-frame
ENST00000360863	101011489	101011648	In-frame
ENST00000360863	101052189	101052315	In-frame
ENST00000360863	101092361	101092583	In-frame

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Infer the effects of exon skipping event on protein functional features for RGS22

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
ENST00000360863	4313	1264	101092361	101092583	313	534	39	113
ENST00000360863	4313	1264	101052189	101052315	2134	2259	646	688
ENST00000360863	4313	1264	101051158	101051260	2260	2361	688	722
ENST00000360863	4313	1264	101011489	101011648	2986	3144	930	983
ENST00000360863	4313	1264	100999685	100999847	3214	3375	1006	1060
ENST00000360863	4313	1264	100990144	100990303	3556	3714	1120	1173
ENST00000360863	4313	1264	100974914	100974995	3905	3985	1236	1263

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
ENST00000360863	4313	1264	101092361	101092583	313	534	39	113
ENST00000360863	4313	1264	101052189	101052315	2134	2259	646	688
ENST00000360863	4313	1264	101011489	101011648	2986	3144	930	983
ENST00000360863	4313	1264	100999685	100999847	3214	3375	1006	1060
ENST00000360863	4313	1264	100990144	100990303	3556	3714	1120	1173
ENST00000360863	4313	1264	100974914	100974995	3905	3985	1236	1263

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
Q8NE09	39	113	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	39	113	86	86	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NE09	646	688	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	646	688	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	688	722	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	688	722	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	688	722	692	692	Sequence conflict	Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NE09	930	983	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	930	983	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	930	983	852	980	Domain	Note=RGS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00171
Q8NE09	930	983	943	943	Natural variant	ID=VAR_051798;Note=H->Y;Dbxref=dbSNP:rs3133711
Q8NE09	1006	1060	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	1006	1060	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	1006	1060	1021	1145	Domain	Note=RGS 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00171
Q8NE09	1120	1173	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	1120	1173	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	1120	1173	1142	1174	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NE09	1120	1173	1021	1145	Domain	Note=RGS 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00171
Q8NE09	1236	1263	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	1236	1263	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22

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
Q8NE09	39	113	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	39	113	86	86	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NE09	646	688	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	646	688	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	930	983	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	930	983	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	930	983	852	980	Domain	Note=RGS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00171
Q8NE09	930	983	943	943	Natural variant	ID=VAR_051798;Note=H->Y;Dbxref=dbSNP:rs3133711
Q8NE09	1006	1060	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	1006	1060	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	1006	1060	1021	1145	Domain	Note=RGS 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00171
Q8NE09	1120	1173	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	1120	1173	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22
Q8NE09	1120	1173	1142	1174	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NE09	1120	1173	1021	1145	Domain	Note=RGS 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00171
Q8NE09	1236	1263	505	1264	Alternative sequence	ID=VSP_022306;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8NE09	1236	1263	1	1264	Chain	ID=PRO_0000271376;Note=Regulator of G-protein signaling 22

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SNVs in the skipped exons for RGS22

- 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-HU-A4GT-01	exon_skip_491206	100990145	100990303	100990176	100990176	Frame_Shift_Del	A	-	p.L1163fs
STAD	TCGA-BR-A4QL-01	exon_skip_491206	100990145	100990303	100990178	100990179	Frame_Shift_Del	TT	-	p.1162_1163del
UCEC	TCGA-D1-A17U-01	exon_skip_491206	100990145	100990303	100990178	100990178	Frame_Shift_Del	T	-	p.K1162fs
LIHC	TCGA-DD-A3A0-01	exon_skip_491206	100990145	100990303	100990292	100990292	Frame_Shift_Del	A	-	p.F1124fs
LIHC	TCGA-DD-A39Y-01	exon_skip_491207	100999686	100999847	100999692	100999692	Frame_Shift_Del	T	-	p.K1058fs
LIHC	TCGA-DD-A3A0-01	exon_skip_491208	101011490	101011648	101011548	101011548	Frame_Shift_Del	T	-	p.N964fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_491208	101011490	101011648	101011560	101011560	Frame_Shift_Del	T	-	p.N960fs
LIHC	TCGA-DD-A1EG-01	exon_skip_491212	101051159	101051260	101051177	101051177	Frame_Shift_Del	T	-	p.K716fs
LIHC	TCGA-DD-A1EG-01	exon_skip_491221	101075644	101076271	101075899	101075899	Frame_Shift_Del	A	-	p.L366fs
LIHC	TCGA-DD-A39Y-01	exon_skip_491221	101075644	101076271	101075899	101075899	Frame_Shift_Del	A	-	p.L366fs
STAD	TCGA-HU-A4GQ-01	exon_skip_491221	101075644	101076271	101075899	101075899	Frame_Shift_Del	A	-	p.L366fs
STAD	TCGA-MX-A5UJ-01	exon_skip_491221	101075644	101076271	101075899	101075899	Frame_Shift_Del	A	-	p.L366fs
LIHC	TCGA-DD-A3A0-01	exon_skip_491221	101075644	101076271	101075946	101075946	Frame_Shift_Del	T	-	p.K350fs
LIHC	TCGA-DD-A3A0-01	exon_skip_491223	101092362	101092583	101092480	101092480	Frame_Shift_Del	T	-	p.N74fs
LIHC	TCGA-DD-A3A0-01	exon_skip_491223	101092362	101092583	101092503	101092503	Frame_Shift_Del	T	-	p.K66fs
STAD	TCGA-BR-6452-01	exon_skip_491223	101092362	101092583	101092539	101092539	Frame_Shift_Del	A	-	p.E55fs
TGCT	TCGA-2G-AAGT-01	exon_skip_491206	100990145	100990303	100990176	100990177	Frame_Shift_Ins	-	G	p.G1163fs
HNSC	TCGA-MT-A7BN-01	exon_skip_491206	100990145	100990303	100990177	100990178	Frame_Shift_Ins	-	T	p.NG1162fs
STAD	TCGA-CG-5728-01	exon_skip_491206	100990145	100990303	100990287	100990288	Frame_Shift_Ins	-	C	p.V1126fs
STAD	TCGA-CG-5728-01	exon_skip_491206	100990145	100990303	100990288	100990289	Frame_Shift_Ins	-	C	p.V1126fs
STAD	TCGA-BR-7707-01	exon_skip_491221	101075644	101076271	101075898	101075899	Frame_Shift_Ins	-	A	p.L366fs
STAD	TCGA-BR-7707-01	exon_skip_491221	101075644	101076271	101075899	101075900	Frame_Shift_Ins	-	A	p.L366fs
STAD	TCGA-CG-5733-01	exon_skip_491223	101092362	101092583	101092489	101092490	Frame_Shift_Ins	-	T	p.I71fs
STAD	TCGA-CG-5733-01	exon_skip_491223	101092362	101092583	101092490	101092491	Frame_Shift_Ins	-	T	p.I71fs
THYM	TCGA-4V-A9QJ-01	exon_skip_491205	100974915	100974995	100974959	100974959	Nonsense_Mutation	G	T	p.S1249X
COAD	TCGA-AZ-4315-01	exon_skip_491212	101051159	101051260	101051197	101051197	Nonsense_Mutation	C	A	p.E710X
SKCM	TCGA-FW-A3R5-06	exon_skip_491212	101051159	101051260	101051255	101051255	Nonsense_Mutation	C	T	p.W690*
SKCM	TCGA-FW-A3R5-06	exon_skip_491212	101051159	101051260	101051255	101051255	Nonsense_Mutation	C	T	p.W690X
UCEC	TCGA-B5-A0JY-01	exon_skip_491218	101054030	101054144	101054038	101054038	Nonsense_Mutation	C	A	p.E644*
OV	TCGA-25-1313-01	exon_skip_491221	101075644	101076271	101075775	101075775	Nonsense_Mutation	A	T	p.Y407*
BRCA	TCGA-AO-A0J4-01	exon_skip_491221	101075644	101076271	101075866	101075866	Nonsense_Mutation	G	C	p.S377*
READ	TCGA-EI-6917-01	exon_skip_491221	101075644	101076271	101076056	101076056	Nonsense_Mutation	C	A	p.E314X
LUAD	TCGA-93-8067-01	exon_skip_491221	101075644	101076271	101076134	101076134	Nonsense_Mutation	G	A	p.Q288*
LUAD	TCGA-17-Z053-01	exon_skip_491221	101075644	101076271	101076251	101076251	Nonsense_Mutation	C	A	p.G249*
SKCM	TCGA-D9-A6EC-06	exon_skip_491223	101092362	101092583	101092478	101092478	Nonsense_Mutation	G	A	p.Q75*
UCEC	TCGA-B5-A11N-01	exon_skip_491228	101117602	101117630	101117607	101117607	Nonsense_Mutation	C	A	p.E17*
UCEC	TCGA-BS-A0UV-01	exon_skip_491228	101117602	101117630	101117607	101117607	Nonsense_Mutation	C	A	p.E17*
UCS	TCGA-ND-A4WC-01	exon_skip_491228	101117602	101117630	101117607	101117607	Nonsense_Mutation	C	A	p.E17*
UCS	TCGA-ND-A4WC-01	exon_skip_491228	101117602	101117630	101117607	101117607	Nonsense_Mutation	C	A	p.E17X
COAD	TCGA-D5-5537-01	exon_skip_491208	101011490	101011648	101011489	101011489	Splice_Site	C	A	.
SKCM	TCGA-BF-A5EQ-01	exon_skip_491208	101011490	101011648	101011649	101011649	Splice_Site	C	T	.
LUAD	TCGA-05-4417-01	exon_skip_491219	101065030	101065204	101065029	101065030	Splice_Site	CC	AA	p.Q563_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
SNU387_LIVER	101075644	101076271	101075994	101075995	Frame_Shift_Del	CT	-	p.K334fs
MM127_SKIN	100990145	100990303	100990158	100990158	Missense_Mutation	T	G	p.E1169A
JHUEM7_ENDOMETRIUM	100990145	100990303	100990179	100990179	Missense_Mutation	T	G	p.K1162T
SKRC20_KIDNEY	100990145	100990303	100990195	100990195	Missense_Mutation	T	G	p.N1157H
SNU1040_LARGE_INTESTINE	100990145	100990303	100990222	100990222	Missense_Mutation	T	A	p.S1148C
HT115_LARGE_INTESTINE	100990145	100990303	100990247	100990247	Missense_Mutation	C	A	p.K1139N
SW872_SOFT_TISSUE	100990145	100990303	100990301	100990301	Missense_Mutation	C	T	p.M1121I
DU145_PROSTATE	100999686	100999847	100999798	100999798	Missense_Mutation	C	G	p.R1023P
HCC2998_LARGE_INTESTINE	100999686	100999847	100999798	100999798	Missense_Mutation	C	T	p.R1023H
SNU1040_LARGE_INTESTINE	100999686	100999847	100999798	100999798	Missense_Mutation	C	T	p.R1023H
YKG1_CENTRAL_NERVOUS_SYSTEM	101011490	101011648	101011495	101011495	Missense_Mutation	T	C	p.I982V
RCM1_LARGE_INTESTINE	101011490	101011648	101011541	101011541	Missense_Mutation	C	G	p.W966C
SKMEL1_SKIN	101011490	101011648	101011541	101011541	Missense_Mutation	C	G	p.W966C
SNUC2B_LARGE_INTESTINE	101011490	101011648	101011541	101011541	Missense_Mutation	C	G	p.W966C
SW1116_LARGE_INTESTINE	101011490	101011648	101011541	101011541	Missense_Mutation	C	G	p.W966C
DM3_FIBROBLAST	101011490	101011648	101011643	101011643	Missense_Mutation	C	A	p.M932I
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	101016154	101016326	101016181	101016181	Missense_Mutation	C	T	p.R867H
SNU407_LARGE_INTESTINE	101016154	101016326	101016181	101016181	Missense_Mutation	C	T	p.R867H
CAR1_LARGE_INTESTINE	101016154	101016326	101016181	101016181	Missense_Mutation	C	T	p.R867H
SNU1040_LARGE_INTESTINE	101016154	101016326	101016214	101016214	Missense_Mutation	A	G	p.L856P
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	101016154	101016326	101016283	101016283	Missense_Mutation	T	C	p.N833S
HCC2450_LUNG	101016154	101016326	101016286	101016286	Missense_Mutation	G	C	p.S832C
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	101016154	101016326	101016301	101016301	Missense_Mutation	C	T	p.G827D
SCH_STOMACH	101052190	101052315	101052230	101052230	Missense_Mutation	C	T	p.G675E
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	101052190	101052315	101052306	101052306	Missense_Mutation	C	T	p.V650M
YD10B_UPPER_AERODIGESTIVE_TRACT	101054030	101054144	101054103	101054103	Missense_Mutation	G	A	p.T622I
COGN305_AUTONOMIC_GANGLIA	101054030	101054144	101054116	101054116	Missense_Mutation	C	T	p.V618I
HCC515_LUNG	101054030	101054144	101054122	101054122	Missense_Mutation	T	A	p.S616C
T3M10_LUNG	101054030	101054144	101054132	101054132	Missense_Mutation	C	G	p.M612I
DU145_PROSTATE	101065030	101065204	101065101	101065101	Missense_Mutation	G	T	p.P540T
HCE4_OESOPHAGUS	101065030	101065204	101065152	101065152	Missense_Mutation	C	T	p.E523K
RXF393_KIDNEY	101065030	101065204	101065166	101065166	Missense_Mutation	T	A	p.K518I
NCIH378_LUNG	101065030	101065204	101065181	101065181	Missense_Mutation	T	C	p.H513R
MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	101075644	101076271	101075751	101075751	Missense_Mutation	A	T	p.F415L
CASKI_CERVIX	101075644	101076271	101075777	101075777	Missense_Mutation	A	G	p.Y407H
MERO25_LUNG	101075644	101076271	101075829	101075829	Missense_Mutation	A	T	p.N389K
SW13_ADRENAL_CORTEX	101075644	101076271	101075852	101075852	Missense_Mutation	G	C	p.Q382E
JHUEM7_ENDOMETRIUM	101075644	101076271	101075907	101075907	Missense_Mutation	C	A	p.K363N
NCIH1836_LUNG	101075644	101076271	101075940	101075941	Missense_Mutation	TG	GT	p.S352Y
GP2D_LARGE_INTESTINE	101075644	101076271	101075944	101075944	Missense_Mutation	A	G	p.V351A
GP5D_LARGE_INTESTINE	101075644	101076271	101075944	101075944	Missense_Mutation	A	G	p.V351A
NCIH1568_LUNG	101075644	101076271	101075944	101075944	Missense_Mutation	A	T	p.V351E
DU145_PROSTATE	101075644	101076271	101075990	101075990	Missense_Mutation	C	A	p.V336F
NCIH1568_LUNG	101075644	101076271	101076037	101076037	Missense_Mutation	A	C	p.I320R
DV90_LUNG	101075644	101076271	101076100	101076100	Missense_Mutation	T	G	p.Q299P
MM370_SKIN	101075644	101076271	101076130	101076130	Missense_Mutation	G	A	p.A289V
SAS_UPPER_AERODIGESTIVE_TRACT	101075644	101076271	101076175	101076175	Missense_Mutation	T	C	p.E274G
ONS76_CENTRAL_NERVOUS_SYSTEM	101075644	101076271	101076208	101076208	Missense_Mutation	T	C	p.K263R
SNU1040_LARGE_INTESTINE	101092362	101092583	101092378	101092378	Missense_Mutation	A	G	p.V108A
DU145_PROSTATE	101092362	101092583	101092379	101092379	Missense_Mutation	C	T	p.V108I
NCIH1155_LUNG	101092362	101092583	101092379	101092379	Missense_Mutation	C	T	p.V108I
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	101092362	101092583	101092410	101092410	Missense_Mutation	C	T	p.M97I
NCIH630_LARGE_INTESTINE	101092362	101092583	101092460	101092460	Missense_Mutation	T	C	p.I81V
SW684_SOFT_TISSUE	101092362	101092583	101092508	101092508	Missense_Mutation	C	T	p.E65K
NCIH2170_LUNG	101092362	101092583	101092540	101092540	Missense_Mutation	A	G	p.F54S
SUM149PT_BREAST	101117602	101117630	101117611	101117611	Missense_Mutation	T	A	p.E15D
HCC2998_LARGE_INTESTINE	101117602	101117630	101117613	101117613	Missense_Mutation	C	T	p.E15K
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	100990145	100990303	100990213	100990213	Nonsense_Mutation	C	A	p.E1151*
TGBC11TKB_STOMACH	101016154	101016326	101016272	101016272	Nonsense_Mutation	G	A	p.R837*
A427_LUNG	101075644	101076271	101075793	101075793	Nonsense_Mutation	A	T	p.C401*
NCIH1836_LUNG	101075644	101076271	101075941	101075941	Nonsense_Mutation	G	T	p.S352*
HEC251_ENDOMETRIUM	101075644	101076271	101076056	101076056	Nonsense_Mutation	C	A	p.E314*
SNU81_LARGE_INTESTINE	101075644	101076271	101076056	101076056	Nonsense_Mutation	C	A	p.E314*
HEC251_ENDOMETRIUM	101075644	101076271	101076185	101076185	Nonsense_Mutation	C	A	p.E271*
HCC2998_LARGE_INTESTINE	101075644	101076271	101076270	101076270	Splice_Site	C	A	p.E242D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS22

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 RGS22

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS22

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RelatedDrugs for RGS22

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 RGS22

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for RGS22

Exon skipping events across known transcript of Ensembl for RGS22 from UCSC genome browser

Gene isoform structures and expression levels for RGS22

Exon skipping events with PSIs in TCGA for RGS22

Exon skipping events with PSIs in GTEx for RGS22

Open reading frame (ORF) annotation in the exon skipping event for RGS22

Infer the effects of exon skipping event on protein functional features for RGS22

SNVs in the skipped exons for RGS22

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGS22

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS22

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGS22

RelatedDrugs for RGS22

RelatedDiseases for RGS22