ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ARHGAP27

Gene summary

Gene information	Gene symbol	ARHGAP27
	Gene ID	201176
	Gene name	Rho GTPase activating protein 27
	Synonyms	CAMGAP1\|PP905\|SH3D20\|SH3P20
	Cytomap	17q21.31
	Type of gene	protein-coding
	Description	rho GTPase-activating protein 27CIN85-associated multi-domain-containing Rho GTPase-activating protein 1SH3 domain containing 20SH3 domain-containing protein 20rho-type GTPase-activating protein 27
	Modification date	20180523
	UniProtAcc	Q6ZUM4
	Context	PubMed: ARHGAP27 [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 ARHGAP27 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 ARHGAP27

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 ARHGAP27

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290749	17	43473109:43473215:43473348:43473483:43473572:43473650	43473348:43473483	ENSG00000159314.7	ENST00000442348.1,ENST00000532891.2,ENST00000376922.2,ENST00000532038.1,ENST00000531735.1,ENST00000455881.1,ENST00000428638.1,ENST00000528384.1
exon_skip_290750	17	43473428:43473483:43473572:43473650:43473852:43473951	43473572:43473650	ENSG00000159314.7	ENST00000442348.1,ENST00000532891.2,ENST00000376922.2,ENST00000532038.1,ENST00000531735.1,ENST00000455881.1,ENST00000428638.1,ENST00000528384.1
exon_skip_290754	17	43473428:43473483:43473572:43473951:43474033:43474136	43473572:43473951	ENSG00000159314.7	ENST00000581638.1
exon_skip_290757	17	43473572:43473650:43473852:43473951:43474033:43474136	43473852:43473951	ENSG00000159314.7	ENST00000442348.1,ENST00000532891.2,ENST00000376922.2,ENST00000532038.1,ENST00000531735.1,ENST00000455881.1,ENST00000428638.1,ENST00000528384.1
exon_skip_290759	17	43474033:43474156:43474281:43474390:43475314:43475413	43474281:43474390	ENSG00000159314.7	ENST00000442348.1,ENST00000532891.2,ENST00000376922.2,ENST00000532038.1,ENST00000531735.1,ENST00000455881.1,ENST00000428638.1,ENST00000528384.1
exon_skip_290775	17	43475330:43475413:43478945:43479034:43480079:43480182	43478945:43479034	ENSG00000159314.7	ENST00000526484.1
exon_skip_290777	17	43480139:43480184:43480984:43481075:43481394:43481462	43480984:43481075	ENSG00000159314.7	ENST00000442348.1,ENST00000524404.1,ENST00000532667.1,ENST00000532891.2,ENST00000376922.2,ENST00000529357.1,ENST00000532038.1,ENST00000455881.1,ENST00000428638.1,ENST00000528384.1,ENST00000526484.1
exon_skip_290778	17	43480984:43481075:43481394:43481462:43481634:43481700	43481394:43481462	ENSG00000159314.7	ENST00000442348.1,ENST00000532667.1,ENST00000376922.2,ENST00000455881.1,ENST00000428638.1,ENST00000528384.1
exon_skip_290779	17	43480984:43481075:43481394:43481462:43481810:43481894	43481394:43481462	ENSG00000159314.7	ENST00000524404.1,ENST00000532891.2,ENST00000529357.1,ENST00000532038.1
exon_skip_290783	17	43481394:43481462:43481634:43481700:43481810:43481894	43481634:43481700	ENSG00000159314.7	ENST00000442348.1,ENST00000532667.1,ENST00000376922.2,ENST00000455881.1,ENST00000428638.1,ENST00000528384.1
exon_skip_290784	17	43481840:43481894:43481966:43482047:43482289:43482472	43481966:43482047	ENSG00000159314.7	ENST00000532891.2,ENST00000376922.2,ENST00000529357.1,ENST00000532038.1,ENST00000528677.1,ENST00000531735.1,ENST00000455881.1,ENST00000428638.1
exon_skip_290787	17	43483212:43483449:43506988:43507663:43508986:43509118	43506988:43507663	ENSG00000159314.7	ENST00000531735.1
exon_skip_290795	17	43508986:43509118:43509581:43509715:43510117:43510219	43509581:43509715	ENSG00000159314.7	ENST00000528273.1,ENST00000290470.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ARHGAP27

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_290749	17	43473109:43473215:43473348:43473483:43473572:43473650	43473348:43473483	ENSG00000159314.7	ENST00000532038.1,ENST00000376922.2,ENST00000531735.1,ENST00000528384.1,ENST00000532891.2,ENST00000428638.1,ENST00000442348.1,ENST00000455881.1
exon_skip_290750	17	43473428:43473483:43473572:43473650:43473852:43473951	43473572:43473650	ENSG00000159314.7	ENST00000532038.1,ENST00000376922.2,ENST00000531735.1,ENST00000528384.1,ENST00000532891.2,ENST00000428638.1,ENST00000442348.1,ENST00000455881.1
exon_skip_290754	17	43473428:43473483:43473572:43473951:43474033:43474136	43473572:43473951	ENSG00000159314.7	ENST00000581638.1
exon_skip_290757	17	43473572:43473650:43473852:43473951:43474033:43474136	43473852:43473951	ENSG00000159314.7	ENST00000532038.1,ENST00000376922.2,ENST00000531735.1,ENST00000528384.1,ENST00000532891.2,ENST00000428638.1,ENST00000442348.1,ENST00000455881.1
exon_skip_290759	17	43474033:43474156:43474281:43474390:43475314:43475413	43474281:43474390	ENSG00000159314.7	ENST00000532038.1,ENST00000376922.2,ENST00000531735.1,ENST00000528384.1,ENST00000532891.2,ENST00000428638.1,ENST00000442348.1,ENST00000455881.1
exon_skip_290775	17	43475330:43475413:43478945:43479034:43480079:43480182	43478945:43479034	ENSG00000159314.7	ENST00000526484.1
exon_skip_290777	17	43480139:43480184:43480984:43481075:43481394:43481462	43480984:43481075	ENSG00000159314.7	ENST00000532038.1,ENST00000376922.2,ENST00000528384.1,ENST00000532891.2,ENST00000428638.1,ENST00000442348.1,ENST00000455881.1,ENST00000529357.1,ENST00000526484.1,ENST00000524404.1,ENST00000532667.1
exon_skip_290778	17	43480984:43481075:43481394:43481462:43481634:43481700	43481394:43481462	ENSG00000159314.7	ENST00000376922.2,ENST00000528384.1,ENST00000428638.1,ENST00000442348.1,ENST00000455881.1,ENST00000532667.1
exon_skip_290779	17	43480984:43481075:43481394:43481462:43481810:43481894	43481394:43481462	ENSG00000159314.7	ENST00000532038.1,ENST00000532891.2,ENST00000529357.1,ENST00000524404.1
exon_skip_290783	17	43481394:43481462:43481634:43481700:43481810:43481894	43481634:43481700	ENSG00000159314.7	ENST00000376922.2,ENST00000528384.1,ENST00000428638.1,ENST00000442348.1,ENST00000455881.1,ENST00000532667.1
exon_skip_290784	17	43481840:43481894:43481966:43482047:43482289:43482472	43481966:43482047	ENSG00000159314.7	ENST00000532038.1,ENST00000376922.2,ENST00000531735.1,ENST00000532891.2,ENST00000428638.1,ENST00000455881.1,ENST00000529357.1,ENST00000528677.1
exon_skip_290787	17	43483212:43483449:43506988:43507663:43508986:43509118	43506988:43507663	ENSG00000159314.7	ENST00000531735.1
exon_skip_290795	17	43508986:43509118:43509581:43509715:43510117:43510219	43509581:43509715	ENSG00000159314.7	ENST00000528273.1,ENST00000290470.3

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 ARHGAP27

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
ENST00000428638	43474281	43474390	Frame-shift
ENST00000428638	43480984	43481075	Frame-shift
ENST00000428638	43481394	43481462	Frame-shift
ENST00000428638	43473348	43473483	In-frame
ENST00000428638	43473572	43473650	In-frame
ENST00000428638	43473852	43473951	In-frame
ENST00000428638	43481634	43481700	In-frame
ENST00000428638	43481966	43482047	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
ENST00000428638	43474281	43474390	Frame-shift
ENST00000428638	43480984	43481075	Frame-shift
ENST00000428638	43481394	43481462	Frame-shift
ENST00000428638	43473348	43473483	In-frame
ENST00000428638	43473572	43473650	In-frame
ENST00000428638	43473852	43473951	In-frame
ENST00000428638	43481634	43481700	In-frame
ENST00000428638	43481966	43482047	In-frame

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Infer the effects of exon skipping event on protein functional features for ARHGAP27

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
ENST00000428638	2687	889	43481966	43482047	1249	1329	416	443
ENST00000428638	2687	889	43481634	43481700	1414	1479	471	493
ENST00000428638	2687	889	43473852	43473951	2075	2173	691	724
ENST00000428638	2687	889	43473572	43473650	2174	2251	724	750
ENST00000428638	2687	889	43473348	43473483	2252	2386	750	795

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
ENST00000428638	2687	889	43481966	43482047	1249	1329	416	443
ENST00000428638	2687	889	43481634	43481700	1414	1479	471	493
ENST00000428638	2687	889	43473852	43473951	2075	2173	691	724
ENST00000428638	2687	889	43473572	43473650	2174	2251	724	750
ENST00000428638	2687	889	43473348	43473483	2252	2386	750	795

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
Q6ZUM4	416	443	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	416	443	416	442	Alternative sequence	ID=VSP_031056;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6ZUM4	416	443	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	416	443	411	444	Domain	Note=WW 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q6ZUM4	471	493	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	471	493	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	691	724	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	691	724	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	691	724	697	886	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q6ZUM4	724	750	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	724	750	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	724	750	697	886	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q6ZUM4	750	795	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	750	795	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	750	795	697	886	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172

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
Q6ZUM4	416	443	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	416	443	416	442	Alternative sequence	ID=VSP_031056;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6ZUM4	416	443	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	416	443	411	444	Domain	Note=WW 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q6ZUM4	471	493	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	471	493	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	691	724	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	691	724	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	691	724	697	886	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q6ZUM4	724	750	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	724	750	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	724	750	697	886	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q6ZUM4	750	795	264	889	Alternative sequence	ID=VSP_031055;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:15498874;Dbxref=PMID:15489334,PMID:15498874
Q6ZUM4	750	795	1	889	Chain	ID=PRO_0000317578;Note=Rho GTPase-activating protein 27
Q6ZUM4	750	795	697	886	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172

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SNVs in the skipped exons for ARHGAP27

- 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.

ARHGAP27_LUAD_exon_skip_290783_psi_boxplot.png
boxplot

- 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
BLCA	TCGA-BT-A20R-01	exon_skip_290750	43473573	43473650	43473589	43473589	Frame_Shift_Del	G	-	p.R404fs
BLCA	TCGA-BT-A20R-01	exon_skip_290750	43473573	43473650	43473589	43473589	Frame_Shift_Del	G	-	p.R523fs
BLCA	TCGA-BT-A20R-01	exon_skip_290754	43473573	43473951	43473589	43473589	Frame_Shift_Del	G	-	p.R404fs
BLCA	TCGA-BT-A20R-01	exon_skip_290754	43473573	43473951	43473589	43473589	Frame_Shift_Del	G	-	p.R523fs
COAD	TCGA-G4-6588-01	exon_skip_290759	43474282	43474390	43474294	43474294	Nonsense_Mutation	G	A	p.R306X
LUAD	TCGA-38-4630-01	exon_skip_290783	43481635	43481700	43481669	43481669	Nonsense_Mutation	C	T	p.W141*
COAD	TCGA-D5-6532-01	exon_skip_290784	43481967	43482047	43481984	43481984	Nonsense_Mutation	G	A	p.R97X
UCEC	TCGA-B5-A11N-01	exon_skip_290784	43481967	43482047	43481984	43481984	Nonsense_Mutation	G	A	p.R97*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-38-4630-01
	Cancer type: LUAD
	ESID: exon_skip_290783
	Skipped exon start: 43481635
	Skipped exon end: 43481700
	Mutation start: 43481669
	Mutation end: 43481669
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W141*
exon_skip_290783_LUAD_TCGA-38-4630-01.png
exon_skip_421270_LUAD_TCGA-38-4630-01.png

- 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
SCC15_UPPER_AERODIGESTIVE_TRACT	43473349	43473483	43473384	43473384	Missense_Mutation	G	A	p.P784L
GMEL_SKIN	43473349	43473483	43473420	43473420	Missense_Mutation	T	G	p.K772T
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43473573	43473650	43473624	43473624	Missense_Mutation	T	C	p.I734V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43473573	43473951	43473624	43473624	Missense_Mutation	T	C	p.I734V
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43473853	43473951	43473871	43473871	Missense_Mutation	G	T	p.R719S
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43473573	43473951	43473871	43473871	Missense_Mutation	G	T	p.R719S
SNU1_STOMACH	43473853	43473951	43473924	43473924	Missense_Mutation	G	A	p.A701V
SNU1_STOMACH	43473573	43473951	43473924	43473924	Missense_Mutation	G	A	p.A701V
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	43473853	43473951	43473925	43473925	Missense_Mutation	C	T	p.A701T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	43473573	43473951	43473925	43473925	Missense_Mutation	C	T	p.A701T
NUGC3_STOMACH	43473853	43473951	43473940	43473940	Missense_Mutation	C	T	p.G696S
NUGC3_STOMACH	43473573	43473951	43473940	43473940	Missense_Mutation	C	T	p.G696S
NCIH1930_LUNG	43474282	43474390	43474293	43474293	Missense_Mutation	C	T	p.R647Q
KYSE70_OESOPHAGUS	43474282	43474390	43474297	43474297	Missense_Mutation	C	T	p.A646T
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43474282	43474390	43474297	43474297	Missense_Mutation	C	A	p.A646S
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43481967	43482047	43482028	43482028	Missense_Mutation	G	A	p.P423L
SKMES1_LUNG	43481967	43482047	43482034	43482034	Missense_Mutation	T	C	p.E421G
NCIH2077_LUNG	43506989	43507663	43507001	43507001	Missense_Mutation	C	G	p.E215D
NCIH1581_LUNG	43506989	43507663	43507001	43507001	Missense_Mutation	C	G	p.E215D
CAL27_UPPER_AERODIGESTIVE_TRACT	43506989	43507663	43507058	43507058	Missense_Mutation	G	T	p.S196R
HCC95_LUNG	43506989	43507663	43507108	43507108	Missense_Mutation	C	T	p.A180T
SNUC4_LARGE_INTESTINE	43506989	43507663	43507138	43507138	Missense_Mutation	C	T	p.G170S
CCK81_LARGE_INTESTINE	43506989	43507663	43507191	43507191	Missense_Mutation	C	T	p.R152Q
RL952_ENDOMETRIUM	43506989	43507663	43507251	43507251	Missense_Mutation	C	T	p.R132H
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43506989	43507663	43507261	43507261	Missense_Mutation	C	T	p.A129T
DU145_PROSTATE	43506989	43507663	43507371	43507371	Missense_Mutation	G	A	p.A92V
SNU407_LARGE_INTESTINE	43506989	43507663	43507389	43507389	Missense_Mutation	G	A	p.A86V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43506989	43507663	43507390	43507390	Missense_Mutation	C	T	p.A86T
CW2_LARGE_INTESTINE	43506989	43507663	43507423	43507423	Missense_Mutation	C	T	p.A75T
HEC1B_ENDOMETRIUM	43506989	43507663	43507440	43507440	Missense_Mutation	G	A	p.A69V
HCC202_BREAST	43506989	43507663	43507475	43507475	Missense_Mutation	G	T	p.F57L
JHH6_LIVER	43506989	43507663	43507531	43507531	Missense_Mutation	G	A	p.R39W
SW48_LARGE_INTESTINE	43506989	43507663	43507570	43507570	Missense_Mutation	G	A	p.R26C
A2780_OVARY	43506989	43507663	43507585	43507585	Missense_Mutation	C	T	p.G21S
COLO824_BREAST	43481635	43481700	43481668	43481668	Nonsense_Mutation	C	T	p.W482*
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43473853	43473951	43473853	43473853	Splice_Site	C	T	p.G725R
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	43473573	43473951	43473853	43473853	Splice_Site	C	T	p.G725R
HCC38_BREAST	43481395	43481462	43481396	43481396	Splice_Site	G	A	p.R516W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP27

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 ARHGAP27

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGAP27

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RelatedDrugs for ARHGAP27

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 ARHGAP27

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 ARHGAP27

Exon skipping events across known transcript of Ensembl for ARHGAP27 from UCSC genome browser

Gene isoform structures and expression levels for ARHGAP27

Exon skipping events with PSIs in TCGA for ARHGAP27

Exon skipping events with PSIs in GTEx for ARHGAP27

Open reading frame (ORF) annotation in the exon skipping event for ARHGAP27

Infer the effects of exon skipping event on protein functional features for ARHGAP27

SNVs in the skipped exons for ARHGAP27

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP27

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGAP27

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGAP27

RelatedDrugs for ARHGAP27

RelatedDiseases for ARHGAP27