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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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

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Exon skipping events in the canonical protein sequence

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

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ARHGAP5

check button Gene summary
Gene informationGene symbol

ARHGAP5

Gene ID

394

Gene nameRho GTPase activating protein 5
SynonymsGFI2|RhoGAP5|p190-B|p190BRhoGAP
Cytomap

14q12

Type of geneprotein-coding
Descriptionrho GTPase-activating protein 5growth factor independent 2p100 RasGAP-associated p105 proteinp105 RhoGAPrho-type GTPase-activating protein 5
Modification date20200313
UniProtAcc

A0A0A0MSK6,

A0A2X0SYS0,

G3V360,

G3V444,

G3V5I7,

H0YK04,

L8E796,

Q13017,

Context

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

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Gene structures and expression levels for ARHGAP5

check buttonSkipped 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.
all structure

ENSG00000100852
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PCCUPENST00000396582.6ARHGAP5-203:protein_coding:ARHGAP53.165670e+029.747077e-015.299167e-053.984878e-03
HCCUPENST00000396582.6ARHGAP5-203:protein_coding:ARHGAP51.481199e+021.000313e+007.813994e-095.662230e-06
CBUPENST00000555814.1ARHGAP5-208:protein_coding:ARHGAP58.094790e+009.547252e-013.541397e-064.389061e-05
CBUPENST00000556611.5ARHGAP5-210:protein_coding:ARHGAP57.195738e+029.172133e-014.597798e-053.831428e-04
CBUPENST00000539826.6ARHGAP5-206:protein_coding:ARHGAP51.195637e+025.598574e+005.697638e-043.218348e-03
CBUPENST00000557643.1ARHGAP5-211:nonsense_mediated_decay:ARHGAP52.984277e+018.094261e-011.331643e-036.571144e-03
CBUPENST00000433497.5ARHGAP5-205:protein_coding:ARHGAP59.482739e+029.415390e-013.793448e-031.565650e-02
TCUPENST00000433497.5ARHGAP5-205:protein_coding:ARHGAP59.607808e+028.836557e-014.498480e-045.292900e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ARHGAP5

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

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_101427chr1432149902:32150033:32152423:32152528:32154621:3215463332152423:32152528
exon_skip_128454chr1432077309:32077435:32090502:32094386:32117140:3211728732090502:32094386
exon_skip_13492chr1432117143:32117287:32146263:32146340:32149902:3215003332146263:32146340
exon_skip_217983chr1432094038:32094386:32117143:32117287:32146263:3214634032117143:32117287
exon_skip_222619chr1432094038:32094386:32117140:32117287:32146263:3214634032117140:32117287
exon_skip_228811chr1432076985:32077053:32090502:32094386:32117140:3211728732090502:32094386
exon_skip_242949chr1432094370:32094386:32117140:32117287:32146263:3214634032117140:32117287
exon_skip_268794chr1432094300:32094386:32117143:32117287:32146263:3214634032117143:32117287
exon_skip_272284chr1432076985:32077053:32090502:32094386:32117143:3211728732090502:32094386
exon_skip_4044chr1432077309:32077435:32117143:32117287:32146263:3214634032117143:32117287
exon_skip_63622chr1432094370:32094386:32117143:32117287:32146263:3214634032117143:32117287
exon_skip_79296chr1432094300:32094386:32117140:32117287:32146263:3214634032117140:32117287

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for ARHGAP5

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000034512232090502320943865CDS-5UTR
ENST0000053982632090502320943865CDS-5UTR
ENST000003451223211714032117287Frame-shift
ENST000005398263211714032117287Frame-shift

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000034512232090502320943865CDS-5UTR
ENST000003451223211714032117287Frame-shift
ENST000005398263211714032117287Frame-shift
ENST000003451223214626332146340In-frame
ENST000005398263214626332146340In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000034512232090502320943865CDS-5UTR
ENST0000053982632090502320943865CDS-5UTR
ENST000003451223211714032117287Frame-shift
ENST000005398263211714032117287Frame-shift
ENST000003451223215242332152528Frame-shift
ENST000005398263215242332152528Frame-shift
ENST000003451223214626332146340In-frame
ENST000005398263214626332146340In-frame

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Infer the effects of exon skipping event on protein functional features for ARHGAP5

p-ENSG00000100852_img4.png
boxplot

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

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003451229621150232146263321463404182425812891314
ENST000005398264898150232146263321463404104418012891314

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003451229621150232146263321463404182425812891314
ENST000005398264898150232146263321463404104418012891314

check button 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 featureDescription of feature

check button 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 featureDescription of feature
Q130171289131411502ChainID=PRO_0000056702;Note=Rho GTPase-activating protein 5
Q130171289131411502ChainID=PRO_0000056702;Note=Rho GTPase-activating protein 5
Q130171289131412621449DomainNote=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172
Q130171289131412621449DomainNote=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172
Q130171289131413021314HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4
Q130171289131413021314HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4
Q130171289131412931297TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4
Q130171289131412931297TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4

check button 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 featureDescription of feature
Q130171289131411502ChainID=PRO_0000056702;Note=Rho GTPase-activating protein 5
Q130171289131411502ChainID=PRO_0000056702;Note=Rho GTPase-activating protein 5
Q130171289131412621449DomainNote=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172
Q130171289131412621449DomainNote=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172
Q130171289131413021314HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4
Q130171289131413021314HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4
Q130171289131412931297TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4
Q130171289131412931297TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EE4


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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGAP5

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for ARHGAP5

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

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

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

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for ARHGAP5

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP5

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for ARHGAP5

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBM6exon_skip_31501-4.095199e-012.362690e-07
CBHNRNPA1exon_skip_315014.224002e-018.913636e-08
TCRBM3exon_skip_1284544.567050e-011.278527e-09

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RelatedDrugs for ARHGAP5

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

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RelatedDiseases for ARHGAP5

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