ExonSkipAD Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

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

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

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

leaf

SNVs in the skipped exons with depth of coverage

leaf

AD stage-associated exon skipping events

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Correlation with RNA binding proteins (RBPs)

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for ARHGEF7

check button Gene summary
Gene informationGene symbol

ARHGEF7

Gene ID

8874

Gene nameRho guanine nucleotide exchange factor 7
SynonymsBETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB
Cytomap

13q34

Type of geneprotein-coding
Descriptionrho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein
Modification date20200327
UniProtAcc

A0A024RDY9,

A0A2R8YG42,

A0A2X0SF98,

B1ALK7,

B1ANY6,

C9JAD7,

C9JDI6,

E7ENL8,

E7EU80,

E7EUY6,

E9PDQ5,

F6SJA5,

Q14155,

Q5ZEZ2,

Q5ZEZ3,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
ARHGEF7

GO:0043547

positive regulation of GTPase activity

21048939


Top

Gene structures and expression levels for ARHGEF7

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

ENSG00000102606
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
CBUPENST00000544132.2ARHGEF7-219:protein_coding:ARHGEF71.790904e+029.194528e-013.642937e-151.600318e-12
CBDOWNENST00000426073.6ARHGEF7-208:protein_coding:ARHGEF79.296247e+02-1.051926e+005.988595e-066.826896e-05
CBUPENST00000466143.5ARHGEF7-211:protein_coding:ARHGEF72.217029e+018.216201e-011.360547e-036.689949e-03

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

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ARHGEF7

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_112176chr13111153905:111153991:111205289:111205373:111217679:111217880111205289:111205373
exon_skip_12244chr13111288372:111288443:111292118:111292294:111300748:111300847111292118:111292294
exon_skip_125113chr13111267548:111267670:111273814:111273952:111274731:111274790111273814:111273952
exon_skip_131700chr13111159027:111159089:111205289:111205373:111209872:111210002111205289:111205373
exon_skip_177320chr13111205289:111205373:111209872:111210002:111217679:111217880111209872:111210002
exon_skip_181071chr13111115277:111115691:111153905:111153991:111205289:111205363111153905:111153991
exon_skip_18165chr13111205289:111205373:111209872:111210002:111217679:111217800111209872:111210002
exon_skip_186554chr13111277587:111277673:111280538:111280677:111283139:111283226111280538:111280677
exon_skip_197150chr13111153905:111153991:111205289:111205373:111217679:111217800111205289:111205373
exon_skip_21802chr13111277587:111277673:111280272:111280350:111280538:111280623111280272:111280350
exon_skip_238037chr13111288354:111288443:111292118:111292294:111300748:111300847111292118:111292294
exon_skip_247670chr13111153905:111153991:111159027:111159089:111205289:111205363111159027:111159089
exon_skip_256357chr13111153905:111153991:111159027:111159089:111205289:111205373111159027:111159089
exon_skip_278686chr13111205289:111205373:111209266:111209346:111209872:111210002111209266:111209346
exon_skip_31530chr13111115277:111115691:111153905:111153991:111205289:111205373111153905:111153991
exon_skip_36311chr13111277587:111277673:111280272:111280350:111280538:111280677111280272:111280350
exon_skip_62176chr13111288354:111288443:111292118:111292294:111300748:111300819111292118:111292294
exon_skip_65278chr13111286147:111286240:111288354:111288443:111300748:111300847111288354:111288443
exon_skip_79633chr13111153905:111153991:111205289:111205373:111209872:111210002111205289:111205373
exon_skip_95030chr13111265484:111265710:111266827:111266887:111267548:111267670111266827:111266887

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


Top

Open reading frame (ORF) annotation in the exon skipping event for ARHGEF7

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
ENST000003757361112052891112053735UTR-5UTR
ENST000003757361112098721112100025UTR-5UTR
ENST000004260731112098721112100025UTR-5UTR
ENST00000375736111273814111273952Frame-shift
ENST00000426073111273814111273952Frame-shift
ENST00000375736111280272111280350Frame-shift
ENST00000426073111280272111280350Frame-shift
ENST00000375736111288354111288443In-frame
ENST00000426073111288354111288443In-frame

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
ENST000003757361112052891112053735UTR-5UTR
ENST000003757361112098721112100025UTR-5UTR
ENST000004260731112098721112100025UTR-5UTR
ENST00000375736111273814111273952Frame-shift
ENST00000426073111273814111273952Frame-shift
ENST00000375736111280272111280350Frame-shift
ENST00000426073111280272111280350Frame-shift

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
ENST000003757361112052891112053735UTR-5UTR
ENST000003757361112098721112100025UTR-5UTR
ENST000004260731112098721112100025UTR-5UTR
ENST00000375736111280272111280350Frame-shift
ENST00000426073111280272111280350Frame-shift
ENST00000375736111288354111288443In-frame
ENST00000426073111288354111288443In-frame

Top

Infer the effects of exon skipping event on protein functional features for ARHGEF7

p-ENSG00000102606_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

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

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

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


Top

3'-UTR located exon skipping events that lost miRNA binding sites in ARHGEF7

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

Top

SNVs in the skipped exons for ARHGEF7

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

Top

AD stage-associated exon skippint events for ARHGEF7

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
CDRMSBBIFGexon_skip_256357-4.298760e-012.242202e-02chr13+111153905111153991111159027111159089111205289111205373

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF7

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

Top

Correlation with RNA binding proteins (RBPs) for ARHGEF7

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
HCCDAZAP1exon_skip_238037-4.033471e-014.592414e-12
HCCRBMS2exon_skip_238037-4.850762e-011.846632e-17
HCCMSI1exon_skip_238037-4.960115e-012.682901e-18
HCCRBM47exon_skip_238037-4.063225e-013.090623e-12
HCCPTBP1exon_skip_238037-4.978438e-011.928721e-18
PCCRBMS2exon_skip_238037-5.113811e-011.365447e-15
PCCPTBP1exon_skip_238037-5.473822e-014.770708e-18
TCRBMS2exon_skip_12244-4.865186e-017.931543e-11
TCMSI1exon_skip_12244-5.508878e-015.328299e-14
TCNOVA1exon_skip_122446.127293e-019.211308e-18

Top

RelatedDrugs for ARHGEF7

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

Top

RelatedDiseases for ARHGEF7

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