ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ARHGAP26

Gene summary

Gene information	Gene symbol	ARHGAP26
	Gene ID	23092
	Gene name	Rho GTPase activating protein 26
	Synonyms	GRAF\|GRAF1\|OPHN1L\|OPHN1L1
	Cytomap	5q31.3
	Type of gene	protein-coding
	Description	rho GTPase-activating protein 26GTPase regulator associated with focal adhesion kinase pp125(FAK)oligophrenin-1-like protein
	Modification date	20200313
	UniProtAcc	A0A0S2Z508, A0A0S2Z536, A0A2R8Y5C0, A0A2R8YDK5, A0A2R8YGB3, A0A2X0SSF1, C9J6V4, D9ZGG7, H0Y4P9, H0Y835, H7BZE1, H7BZZ0, H7C1J1, H7C205, H7C3P8, Q9UNA1,
	Context

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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Gene structures and expression levels for ARHGAP26

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000145819

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
STG	UP	ENST00000418236.5	ARHGAP26-203:protein_coding:ARHGAP26	1.374483e+01	6.936192e+00	1.008127e-03	3.856804e-02
CB	UP	ENST00000469131.6	ARHGAP26-213:protein_coding:ARHGAP26	3.556946e+00	1.284823e+00	1.321053e-05	1.332888e-04
CB	UP	ENST00000451259.1	ARHGAP26-210:protein_coding:ARHGAP26	1.852690e+00	1.463506e+00	2.938248e-04	1.841203e-03
CB	UP	ENST00000418236.5	ARHGAP26-203:protein_coding:ARHGAP26	1.322346e+02	8.027525e-01	6.336390e-04	3.523218e-03
TC	DOWN	ENST00000642734.1	ARHGAP26-220:protein_coding:ARHGAP26	9.752310e+00	-1.018884e+00	6.073671e-03	3.873116e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ARHGAP26

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_112613	chr5	143037196:143037261:143041816:143041890:143054439:143054526	143041816:143041890
exon_skip_126494	chr5	143147231:143147381:143207198:143207473:143213997:143214088	143207198:143207473
exon_skip_136087	chr5	142901935:142902039:142903540:142903669:142907704:142907804	142903540:142903669
exon_skip_140181	chr5	143147231:143147381:143207383:143207473:143213997:143214088	143207383:143207473
exon_skip_163858	chr5	143147360:143147381:143207198:143207308:143213997:143214088	143207198:143207308
exon_skip_18193	chr5	142873400:142873495:142875110:142875171:142879374:142879445	142875110:142875171
exon_skip_188898	chr5	143147360:143147381:143207383:143207473:143213997:143214088	143207383:143207473
exon_skip_20277	chr5	143147231:143147381:143166027:143166097:143172959:143173032	143166027:143166097
exon_skip_23567	chr5	143207200:143207308:143207444:143207473:143213997:143214085	143207444:143207473
exon_skip_260768	chr5	142932047:142932125:143014080:143014116:143037196:143037223	143014080:143014116
exon_skip_265706	chr5	143133985:143134105:143147231:143147381:143166027:143166097	143147231:143147381
exon_skip_274321	chr5	142913199:142913293:142915542:142915684:142932047:142932125	142915542:142915684
exon_skip_283990	chr5	142885298:142885399:142894238:142894348:142901935:142902039	142894238:142894348
exon_skip_295833	chr5	143207198:143207308:143207444:143207473:143213997:143214085	143207444:143207473
exon_skip_34284	chr5	142894238:142894348:142901935:142902039:142903540:142903669	142901935:142902039
exon_skip_36474	chr5	143014080:143014116:143037196:143037261:143041816:143041890	143037196:143037261
exon_skip_55196	chr5	143147231:143147381:143207198:143207308:143213997:143214088	143207198:143207308
exon_skip_56205	chr5	143147360:143147381:143207198:143207473:143213997:143214088	143207198:143207473
exon_skip_64873	chr5	142879374:142879445:142885298:142885399:142894238:142894335	142885298:142885399
exon_skip_68331	chr5	142885302:142885399:142894238:142894348:142901935:142902039	142894238:142894348

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for ARHGAP26

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000274498	142903540	142903669	Frame-shift
ENST00000274498	143014080	143014116	Frame-shift
ENST00000274498	142885298	142885399	In-frame
ENST00000274498	142894238	142894348	In-frame
ENST00000274498	142901935	142902039	In-frame
ENST00000274498	143037196	143037261	In-frame
ENST00000274498	143207198	143207473	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000274498	142903540	142903669	Frame-shift
ENST00000274498	143014080	143014116	Frame-shift
ENST00000274498	142885298	142885399	In-frame
ENST00000274498	142894238	142894348	In-frame
ENST00000274498	142901935	142902039	In-frame
ENST00000274498	143037196	143037261	In-frame
ENST00000274498	143207198	143207473	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000274498	142875110	142875171	Frame-shift
ENST00000274498	142903540	142903669	Frame-shift
ENST00000274498	143014080	143014116	Frame-shift
ENST00000274498	142885298	142885399	In-frame
ENST00000274498	142894238	142894348	In-frame
ENST00000274498	142901935	142902039	In-frame
ENST00000274498	143037196	143037261	In-frame
ENST00000274498	143041816	143041890	In-frame
ENST00000274498	143207198	143207473	In-frame

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Infer the effects of exon skipping event on protein functional features for ARHGAP26

p-ENSG00000145819_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000274498	9412	814	142885298	142885399	771	871	128	162
ENST00000274498	9412	814	142894238	142894348	873	982	162	199
ENST00000274498	9412	814	142901935	142902039	984	1087	199	234
ENST00000274498	9412	814	143037196	143037261	1531	1595	382	403
ENST00000274498	9412	814	143207198	143207473	2375	2649	663	754

Loci of skipped exons in MSBB 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
ENST00000274498	9412	814	142885298	142885399	771	871	128	162
ENST00000274498	9412	814	142894238	142894348	873	982	162	199
ENST00000274498	9412	814	142901935	142902039	984	1087	199	234
ENST00000274498	9412	814	143037196	143037261	1531	1595	382	403
ENST00000274498	9412	814	143207198	143207473	2375	2649	663	754

Loci of skipped exons in Mayo 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
ENST00000274498	9412	814	142885298	142885399	771	871	128	162
ENST00000274498	9412	814	142894238	142894348	873	982	162	199
ENST00000274498	9412	814	142901935	142902039	984	1087	199	234
ENST00000274498	9412	814	143037196	143037261	1531	1595	382	403
ENST00000274498	9412	814	143041816	143041890	1597	1670	404	428
ENST00000274498	9412	814	143207198	143207473	2375	2649	663	754

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q9UNA1	128	162	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	162	199	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	199	234	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	382	403	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	382	403	383	568	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q9UNA1	663	754	700	754	Alternative sequence	ID=VSP_001659;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UNA1	663	754	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	663	754	584	701	Compositional bias	Note=Ser-rich

Lost protein functional features of individual exon skipping events in MSBB.

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
Q9UNA1	128	162	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	162	199	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	199	234	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	382	403	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	382	403	383	568	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q9UNA1	663	754	700	754	Alternative sequence	ID=VSP_001659;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UNA1	663	754	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	663	754	584	701	Compositional bias	Note=Ser-rich

Lost protein functional features of individual exon skipping events in Mayo.

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
Q9UNA1	128	162	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	162	199	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	199	234	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	382	403	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	382	403	383	568	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q9UNA1	404	428	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	404	428	383	568	Domain	Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00172
Q9UNA1	404	428	417	417	Natural variant	ID=VAR_013623;Note=In JMML%3B somatic mutation. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10908648;Dbxref=dbSNP:rs121918546,PMID:10908648
Q9UNA1	663	754	700	754	Alternative sequence	ID=VSP_001659;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9UNA1	663	754	1	814	Chain	ID=PRO_0000056718;Note=Rho GTPase-activating protein 26
Q9UNA1	663	754	584	701	Compositional bias	Note=Ser-rich

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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGAP26

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for ARHGAP26

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for ARHGAP26

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

ADstage

MSBB

IFG

exon_skip_86730

-5.269694e-01

3.961444e-03

chr5

143037196

143037261

143041525

143041668

143041816

143041890

CDR

MSBB

IFG

exon_skip_86730

-5.554360e-01

2.152706e-03

chr5

143037196

143037261

143041525

143041668

143041816

143041890

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP26

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_126494	rs6887887	chr5:143156348	2.199884e-06	3.323863e-04

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Correlation with RNA binding proteins (RBPs) for ARHGAP26

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TRA2A	exon_skip_55196	-4.408421e-01	4.004065e-08
HCC	RBM6	exon_skip_55196	5.170941e-01	3.007269e-19
HCC	PCBP4	exon_skip_55196	4.527101e-01	1.361918e-14
HCC	EIF4G2	exon_skip_55196	4.319647e-01	2.737061e-13
HCC	SRSF5	exon_skip_55196	4.097212e-01	5.484627e-12
HCC	ZC3H10	exon_skip_55196	4.973293e-01	1.030661e-17
HCC	RBM6	exon_skip_126494	4.551225e-01	1.923683e-14
HCC	PTBP1	exon_skip_126494	5.401894e-01	1.017970e-20
HCC	ZC3H10	exon_skip_126494	4.422797e-01	1.227311e-13
IFG	RBM6	exon_skip_55196	4.725907e-01	1.280070e-02
IFG	HNRNPK	exon_skip_55196	4.364496e-01	2.284341e-02
IFG	PPRC1	exon_skip_55196	4.163362e-01	3.076157e-02
IFG	SRSF5	exon_skip_55196	5.562053e-01	2.589746e-03
IFG	RBM24	exon_skip_126494	-4.118316e-01	3.657707e-02
PCC	PTBP1	exon_skip_126494	4.993811e-01	1.666590e-13
TC	MATR3	exon_skip_163858	-6.737099e-01	2.188613e-20
TC	ELAVL4	exon_skip_56205	-6.236634e-01	3.743936e-15
TC	MATR3	exon_skip_56205	-5.764778e-01	1.074176e-12
TC	RBM24	exon_skip_56205	-5.483637e-01	2.079484e-11
TC	RALYL	exon_skip_56205	-6.516750e-01	8.066080e-17
TC	PTBP1	exon_skip_56205	5.546215e-01	1.101191e-11
TC	NOVA1	exon_skip_56205	-7.324008e-01	8.905237e-23

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RelatedDrugs for ARHGAP26

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ARHGAP26

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for ARHGAP26

Gene structures and expression levels for ARHGAP26

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ARHGAP26

Open reading frame (ORF) annotation in the exon skipping event for ARHGAP26

Infer the effects of exon skipping event on protein functional features for ARHGAP26

3'-UTR located exon skipping events that lost miRNA binding sites in ARHGAP26

SNVs in the skipped exons for ARHGAP26

AD stage-associated exon skippint events for ARHGAP26

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP26

Correlation with RNA binding proteins (RBPs) for ARHGAP26

RelatedDrugs for ARHGAP26

RelatedDiseases for ARHGAP26