ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RACGAP1

Gene summary

Gene information	Gene symbol	RACGAP1
	Gene ID	29127
	Gene name	Rac GTPase activating protein 1
	Synonyms	CYK4\|HsCYK-4\|ID-GAP\|MgcRacGAP
	Cytomap	12q13.12
	Type of gene	protein-coding
	Description	rac GTPase-activating protein 1male germ cell RacGapprotein CYK4 homolog
	Modification date	20180522
	UniProtAcc	Q9H0H5
	Context	PubMed: RACGAP1 [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
RACGAP1	GO:0000281	mitotic cytokinesis	11085985\|19468302
RACGAP1	GO:0008272	sulfate transport	11278976
RACGAP1	GO:0032467	positive regulation of cytokinesis	16103226
RACGAP1	GO:0051256	mitotic spindle midzone assembly	16103226

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Exon skipping events across known transcript of Ensembl for RACGAP1 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 RACGAP1

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 RACGAP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_91993	12	50384050:50384126:50384466:50384575:50385780:50385916	50384466:50384575	ENSG00000161800.8	ENST00000547905.1,ENST00000454520.2,ENST00000551016.1,ENST00000434422.1,ENST00000312377.5,ENST00000427314.2
exon_skip_91997	12	50386332:50386438:50387913:50388112:50388196:50388292	50387913:50388112	ENSG00000161800.8	ENST00000547905.1,ENST00000454520.2,ENST00000549342.1,ENST00000551016.1,ENST00000434422.1,ENST00000312377.5,ENST00000427314.2
exon_skip_91998	12	50388196:50388292:50390822:50390987:50392923:50393054	50390822:50390987	ENSG00000161800.8	ENST00000547905.1,ENST00000454520.2,ENST00000551016.1,ENST00000434422.1,ENST00000312377.5,ENST00000427314.2
exon_skip_91999	12	50393457:50393516:50394954:50395035:50396029:50396083	50394954:50395035	ENSG00000161800.8	ENST00000547905.1,ENST00000454520.2,ENST00000550149.1,ENST00000551016.1,ENST00000434422.1,ENST00000547061.1,ENST00000552310.1,ENST00000312377.5,ENST00000548598.1,ENST00000427314.2,ENST00000548320.1,ENST00000548158.1
exon_skip_92004	12	50396054:50396083:50410413:50410502:50419180:50419221	50410413:50410502	ENSG00000161800.8	ENST00000548598.1
exon_skip_92009	12	50399140:50399175:50400216:50400419:50410413:50410498	50400216:50400419	ENSG00000161800.8	ENST00000547905.1,ENST00000454520.2,ENST00000546723.1,ENST00000551016.1,ENST00000434422.1,ENST00000549777.1,ENST00000551876.1,ENST00000552310.1,ENST00000548644.1,ENST00000312377.5,ENST00000552004.1,ENST00000552921.1,ENST00000548824.1,ENST00000427314.2,ENS
exon_skip_92011	12	50399140:50399175:50400216:50400419:50419180:50419221	50400216:50400419	ENSG00000161800.8	ENST00000552157.1,ENST00000551145.1
exon_skip_92014	12	50399140:50399175:50410413:50410502:50419110:50419183	50410413:50410502	ENSG00000161800.8	ENST00000546786.1
exon_skip_92015	12	50399140:50399175:50410413:50410502:50419180:50419221	50410413:50410502	ENSG00000161800.8	ENST00000550149.1
exon_skip_92023	12	50400216:50400419:50410413:50410498:50419110:50419183	50410413:50410498	ENSG00000161800.8	ENST00000546723.1
exon_skip_92024	12	50400216:50400419:50410413:50410498:50419155:50419217	50410413:50410498	ENSG00000161800.8	ENST00000548824.1
exon_skip_92025	12	50400216:50400419:50410413:50410498:50419180:50419221	50410413:50410498	ENSG00000161800.8	ENST00000552310.1
exon_skip_92026	12	50400216:50400419:50410413:50410502:50419110:50419183	50410413:50410502	ENSG00000161800.8	ENST00000454520.2
exon_skip_92028	12	50400216:50400419:50410413:50410502:50419180:50419221	50410413:50410502	ENSG00000161800.8	ENST00000312377.5
exon_skip_92035	12	50410417:50410498:50412298:50412372:50419180:50419221	50412298:50412372	ENSG00000161800.8	ENST00000548644.1
exon_skip_92038	12	50410417:50410498:50414844:50414960:50419180:50419221	50414844:50414960	ENSG00000161800.8	ENST00000552004.1
exon_skip_92040	12	50410413:50410502:50412298:50412372:50414844:50414960	50412298:50412372	ENSG00000161800.8	ENST00000547905.1
exon_skip_92044	12	50410413:50410502:50412298:50412372:50419180:50419221	50412298:50412372	ENSG00000161800.8	ENST00000546764.1
exon_skip_92045	12	50410413:50410502:50413526:50413589:50414844:50414960	50413526:50413589	ENSG00000161800.8	ENST00000427314.2
exon_skip_92047	12	50410413:50410502:50414844:50414960:50419155:50419218	50414844:50414960	ENSG00000161800.8	ENST00000549777.1
exon_skip_92048	12	50410413:50410502:50414844:50414960:50419180:50419221	50414844:50414960	ENSG00000161800.8	ENST00000550651.1
exon_skip_92052	12	50412298:50412372:50414844:50414960:50419180:50419221	50414844:50414960	ENSG00000161800.8	ENST00000547905.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RACGAP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_91993	12	50384050:50384126:50384466:50384575:50385780:50385916	50384466:50384575	ENSG00000161800.8	ENST00000427314.2,ENST00000312377.5,ENST00000434422.1,ENST00000454520.2,ENST00000551016.1,ENST00000547905.1
exon_skip_91997	12	50386332:50386438:50387913:50388112:50388196:50388292	50387913:50388112	ENSG00000161800.8	ENST00000427314.2,ENST00000312377.5,ENST00000434422.1,ENST00000454520.2,ENST00000551016.1,ENST00000547905.1,ENST00000549342.1
exon_skip_91998	12	50388196:50388292:50390822:50390987:50392923:50393054	50390822:50390987	ENSG00000161800.8	ENST00000427314.2,ENST00000312377.5,ENST00000434422.1,ENST00000454520.2,ENST00000551016.1,ENST00000547905.1
exon_skip_91999	12	50393457:50393516:50394954:50395035:50396029:50396083	50394954:50395035	ENSG00000161800.8	ENST00000427314.2,ENST00000312377.5,ENST00000434422.1,ENST00000454520.2,ENST00000551016.1,ENST00000547905.1,ENST00000547061.1,ENST00000548320.1,ENST00000548598.1,ENST00000552310.1,ENST00000548158.1,ENST00000550149.1
exon_skip_92004	12	50396054:50396083:50410413:50410502:50419180:50419221	50410413:50410502	ENSG00000161800.8	ENST00000548598.1
exon_skip_92009	12	50399140:50399175:50400216:50400419:50410413:50410498	50400216:50400419	ENSG00000161800.8	ENST00000427314.2,ENST00000312377.5,ENST00000434422.1,ENST00000454520.2,ENST00000551016.1,ENST00000547905.1,ENST00000552310.1,ENST00000548824.1,ENST00000548644.1,ENST00000546723.1,ENST00000552921.1,ENST00000546764.1,ENST00000551876.1,ENST00000549777.1,ENS
exon_skip_92010	12	50399140:50399175:50400216:50400419:50419110:50419183	50400216:50400419	ENSG00000161800.8	ENST00000546595.1
exon_skip_92011	12	50399140:50399175:50400216:50400419:50419180:50419221	50400216:50400419	ENSG00000161800.8	ENST00000551145.1,ENST00000552157.1
exon_skip_92014	12	50399140:50399175:50410413:50410502:50419110:50419183	50410413:50410502	ENSG00000161800.8	ENST00000546786.1
exon_skip_92015	12	50399140:50399175:50410413:50410502:50419180:50419221	50410413:50410502	ENSG00000161800.8	ENST00000550149.1
exon_skip_92023	12	50400216:50400419:50410413:50410498:50419110:50419183	50410413:50410498	ENSG00000161800.8	ENST00000546723.1
exon_skip_92024	12	50400216:50400419:50410413:50410498:50419155:50419217	50410413:50410498	ENSG00000161800.8	ENST00000548824.1
exon_skip_92025	12	50400216:50400419:50410413:50410498:50419180:50419221	50410413:50410498	ENSG00000161800.8	ENST00000552310.1
exon_skip_92026	12	50400216:50400419:50410413:50410502:50419110:50419183	50410413:50410502	ENSG00000161800.8	ENST00000454520.2
exon_skip_92028	12	50400216:50400419:50410413:50410502:50419180:50419221	50410413:50410502	ENSG00000161800.8	ENST00000312377.5
exon_skip_92030	12	50400216:50400419:50410417:50410498:50419155:50419217	50410417:50410498	ENSG00000161800.8	ENST00000551260.1
exon_skip_92035	12	50410417:50410498:50412298:50412372:50419180:50419221	50412298:50412372	ENSG00000161800.8	ENST00000548644.1
exon_skip_92038	12	50410417:50410498:50414844:50414960:50419180:50419221	50414844:50414960	ENSG00000161800.8	ENST00000552004.1
exon_skip_92040	12	50410413:50410502:50412298:50412372:50414844:50414960	50412298:50412372	ENSG00000161800.8	ENST00000547905.1
exon_skip_92044	12	50410413:50410502:50412298:50412372:50419180:50419221	50412298:50412372	ENSG00000161800.8	ENST00000546764.1
exon_skip_92045	12	50410413:50410502:50413526:50413589:50414844:50414960	50413526:50413589	ENSG00000161800.8	ENST00000427314.2
exon_skip_92048	12	50410413:50410502:50414844:50414960:50419180:50419221	50414844:50414960	ENSG00000161800.8	ENST00000550651.1
exon_skip_92052	12	50412298:50412372:50414844:50414960:50419180:50419221	50414844:50414960	ENSG00000161800.8	ENST00000547905.1

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 RACGAP1

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
ENST00000312377	50410413	50410502	3UTR-3CDS
ENST00000454520	50410413	50410502	3UTR-3CDS
ENST00000547905	50412298	50412372	3UTR-3UTR
ENST00000427314	50413526	50413589	3UTR-3UTR
ENST00000547905	50414844	50414960	3UTR-3UTR
ENST00000312377	50384466	50384575	Frame-shift
ENST00000427314	50384466	50384575	Frame-shift
ENST00000454520	50384466	50384575	Frame-shift
ENST00000547905	50384466	50384575	Frame-shift
ENST00000551016	50384466	50384575	Frame-shift
ENST00000312377	50387913	50388112	Frame-shift
ENST00000427314	50387913	50388112	Frame-shift
ENST00000454520	50387913	50388112	Frame-shift
ENST00000547905	50387913	50388112	Frame-shift
ENST00000551016	50387913	50388112	Frame-shift
ENST00000312377	50400216	50400419	Frame-shift
ENST00000427314	50400216	50400419	Frame-shift
ENST00000454520	50400216	50400419	Frame-shift
ENST00000547905	50400216	50400419	Frame-shift
ENST00000551016	50400216	50400419	Frame-shift
ENST00000312377	50390822	50390987	In-frame
ENST00000427314	50390822	50390987	In-frame
ENST00000454520	50390822	50390987	In-frame
ENST00000547905	50390822	50390987	In-frame
ENST00000551016	50390822	50390987	In-frame
ENST00000312377	50394954	50395035	In-frame
ENST00000427314	50394954	50395035	In-frame
ENST00000454520	50394954	50395035	In-frame
ENST00000547905	50394954	50395035	In-frame
ENST00000551016	50394954	50395035	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
ENST00000312377	50410413	50410502	3UTR-3CDS
ENST00000454520	50410413	50410502	3UTR-3CDS
ENST00000547905	50412298	50412372	3UTR-3UTR
ENST00000427314	50413526	50413589	3UTR-3UTR
ENST00000547905	50414844	50414960	3UTR-3UTR
ENST00000312377	50384466	50384575	Frame-shift
ENST00000427314	50384466	50384575	Frame-shift
ENST00000454520	50384466	50384575	Frame-shift
ENST00000547905	50384466	50384575	Frame-shift
ENST00000551016	50384466	50384575	Frame-shift
ENST00000312377	50387913	50388112	Frame-shift
ENST00000427314	50387913	50388112	Frame-shift
ENST00000454520	50387913	50388112	Frame-shift
ENST00000547905	50387913	50388112	Frame-shift
ENST00000551016	50387913	50388112	Frame-shift
ENST00000312377	50400216	50400419	Frame-shift
ENST00000427314	50400216	50400419	Frame-shift
ENST00000454520	50400216	50400419	Frame-shift
ENST00000547905	50400216	50400419	Frame-shift
ENST00000551016	50400216	50400419	Frame-shift
ENST00000312377	50390822	50390987	In-frame
ENST00000427314	50390822	50390987	In-frame
ENST00000454520	50390822	50390987	In-frame
ENST00000547905	50390822	50390987	In-frame
ENST00000551016	50390822	50390987	In-frame
ENST00000312377	50394954	50395035	In-frame
ENST00000427314	50394954	50395035	In-frame
ENST00000454520	50394954	50395035	In-frame
ENST00000547905	50394954	50395035	In-frame
ENST00000551016	50394954	50395035	In-frame

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Infer the effects of exon skipping event on protein functional features for RACGAP1

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
ENST00000312377	3090	632	50394954	50395035	618	698	183	210
ENST00000427314	3246	632	50394954	50395035	774	854	183	210
ENST00000454520	3097	632	50394954	50395035	627	707	183	210
ENST00000547905	2207	632	50394954	50395035	841	921	183	210
ENST00000551016	2210	632	50394954	50395035	555	635	183	210
ENST00000312377	3090	632	50390822	50390987	948	1112	293	348
ENST00000427314	3246	632	50390822	50390987	1104	1268	293	348
ENST00000454520	3097	632	50390822	50390987	957	1121	293	348
ENST00000547905	2207	632	50390822	50390987	1171	1335	293	348
ENST00000551016	2210	632	50390822	50390987	885	1049	293	348

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
ENST00000312377	3090	632	50394954	50395035	618	698	183	210
ENST00000427314	3246	632	50394954	50395035	774	854	183	210
ENST00000454520	3097	632	50394954	50395035	627	707	183	210
ENST00000547905	2207	632	50394954	50395035	841	921	183	210
ENST00000551016	2210	632	50394954	50395035	555	635	183	210
ENST00000312377	3090	632	50390822	50390987	948	1112	293	348
ENST00000427314	3246	632	50390822	50390987	1104	1268	293	348
ENST00000454520	3097	632	50390822	50390987	957	1121	293	348
ENST00000547905	2207	632	50390822	50390987	1171	1335	293	348
ENST00000551016	2210	632	50390822	50390987	885	1049	293	348

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
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226

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
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	203	203	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,E
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	206	206	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	183	210	106	285	Region	Note=Interaction with SLC26A8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11278976;Dbxref=PMID:11278976
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	289	293	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	312	320	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	1	632	Chain	ID=PRO_0000228808;Note=Rac GTPase-activating protein 1
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	325	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	342	342	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	306	306	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	309	309	Mutagenesis	Note=Cytokinesis failure. Abolishes localization at the cell membrane. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	316	316	Mutagenesis	Note=Cytokinesis failure. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23235882;Dbxref=PMID:23235882
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	301	303	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4B6D
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226
Q9H0H5	293	348	286	335	Zinc finger	Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00226

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SNVs in the skipped exons for RACGAP1

- 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
LIHC	TCGA-G3-A3CJ-01	exon_skip_91997	50387914	50388112	50387963	50387963	Frame_Shift_Del	T	-	p.K430fs
LUSC	TCGA-18-5592-01	exon_skip_91997	50387914	50388112	50388016	50388016	Frame_Shift_Del	C	-	p.D413fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_92009 exon_skip_92011	50400217	50400419	50400415	50400415	Frame_Shift_Del	A	-	p.F30fs
KIRP	TCGA-G7-A8LE-01	exon_skip_92023 exon_skip_92025 exon_skip_92024	50410414	50410498	50410456	50410456	Frame_Shift_Del	G	-	p.L15fs
KIRP	TCGA-G7-A8LE-01	exon_skip_92004 exon_skip_92015 exon_skip_92028 exon_skip_92026 exon_skip_92014	50410414	50410502	50410456	50410456	Frame_Shift_Del	G	-	p.L15fs
UCEC	TCGA-D1-A17Q-01	exon_skip_91997	50387914	50388112	50387962	50387962	Nonsense_Mutation	C	A	p.E431*
COAD	TCGA-AA-3510-01	exon_skip_91997	50387914	50388112	50387974	50387974	Nonsense_Mutation	G	A	p.R427X
LUSC	TCGA-39-5024-01	exon_skip_91997	50387914	50388112	50387974	50387974	Nonsense_Mutation	G	A	p.R427*
STAD	TCGA-FP-A4BE-01	exon_skip_92023 exon_skip_92025 exon_skip_92024	50410414	50410498	50410414	50410414	Nonsense_Mutation	G	A	p.Q29*
STAD	TCGA-FP-A4BE-01	exon_skip_92023 exon_skip_92025 exon_skip_92024	50410414	50410498	50410414	50410414	Nonsense_Mutation	G	A	p.Q29X
STAD	TCGA-FP-A4BE-01	exon_skip_92004 exon_skip_92015 exon_skip_92028 exon_skip_92026 exon_skip_92014	50410414	50410502	50410414	50410414	Nonsense_Mutation	G	A	p.Q29*
STAD	TCGA-FP-A4BE-01	exon_skip_92004 exon_skip_92015 exon_skip_92028 exon_skip_92026 exon_skip_92014	50410414	50410502	50410414	50410414	Nonsense_Mutation	G	A	p.Q29X
STAD	TCGA-VQ-A8P2-01	exon_skip_92023 exon_skip_92025 exon_skip_92024	50410414	50410498	50410414	50410414	Nonsense_Mutation	G	A	p.Q29X
STAD	TCGA-VQ-A8P2-01	exon_skip_92004 exon_skip_92015 exon_skip_92028 exon_skip_92026 exon_skip_92014	50410414	50410502	50410414	50410414	Nonsense_Mutation	G	A	p.Q29X

- 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
KYSE270_OESOPHAGUS	50384467	50384575	50384471	50384471	Missense_Mutation	G	A	p.P607S
RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50384467	50384575	50384494	50384494	Missense_Mutation	C	T	p.R599H
451LU_SKIN	50384467	50384575	50384525	50384525	Missense_Mutation	G	T	p.P589T
C32_SKIN	50387914	50388112	50387995	50387995	Missense_Mutation	T	C	p.S420G
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50387914	50388112	50388066	50388066	Missense_Mutation	A	G	p.L396P
LNCAPCLONEFGC_PROSTATE	50387914	50388112	50388099	50388099	Missense_Mutation	C	A	p.R385M
WM1799_SKIN	50390823	50390987	50390839	50390839	Missense_Mutation	G	C	p.P343R
BICR56_UPPER_AERODIGESTIVE_TRACT	50390823	50390987	50390858	50390858	Missense_Mutation	G	C	p.P337A
WM278_SKIN	50390823	50390987	50390866	50390866	Missense_Mutation	G	A	p.P334L
VMRCLCD_LUNG	50390823	50390987	50390917	50390917	Missense_Mutation	C	A	p.R317L
HEC1_ENDOMETRIUM	50400217	50400419	50400240	50400240	Missense_Mutation	C	A	p.A89S
MFE319_ENDOMETRIUM	50400217	50400419	50400324	50400324	Missense_Mutation	C	T	p.A61T
HCC2998_LARGE_INTESTINE	50400217	50400419	50400344	50400344	Missense_Mutation	T	C	p.Y54C
FTC133_THYROID	50400217	50400419	50400366	50400366	Missense_Mutation	T	C	p.T47A
ESO51_OESOPHAGUS	50400217	50400419	50400383	50400383	Missense_Mutation	C	T	p.R41H
MFE319_ENDOMETRIUM	50400217	50400419	50400383	50400383	Missense_Mutation	C	T	p.R41H
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50400217	50400419	50400404	50400404	Missense_Mutation	G	A	p.A34V
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50410414	50410502	50410432	50410432	Missense_Mutation	T	C	p.S23G
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50410414	50410498	50410432	50410432	Missense_Mutation	T	C	p.S23G
EFM192A_BREAST	50410414	50410502	50410446	50410446	Missense_Mutation	C	T	p.R18Q
EFM192A_BREAST	50410414	50410498	50410446	50410446	Missense_Mutation	C	T	p.R18Q
HCC1143_MATCHED_NORMAL_TISSUE	50410414	50410502	50410486	50410486	Missense_Mutation	T	C	p.M5V
HCC1143_MATCHED_NORMAL_TISSUE	50410414	50410498	50410486	50410486	Missense_Mutation	T	C	p.M5V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RACGAP1

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 RACGAP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RACGAP1

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RelatedDrugs for RACGAP1

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 RACGAP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
RACGAP1	C0032460	Polycystic Ovary Syndrome	1	CTD_human

	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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