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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ARHGEF7 |
Gene summary |
Gene information | Gene symbol | ARHGEF7 | Gene ID | 8874 |
Gene name | Rho guanine nucleotide exchange factor 7 | |
Synonyms | BETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB | |
Cytomap | 13q34 | |
Type of gene | protein-coding | |
Description | rho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein | |
Modification date | 20200327 | |
UniProtAcc | A0A024RDY9, A0A2R8YG42, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ARHGEF7 | GO:0043547 | positive regulation of GTPase activity | 21048939 |
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Gene structures and expression levels for ARHGEF7 |
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. |
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 |
CB | UP | ENST00000544132.2 | ARHGEF7-219:protein_coding:ARHGEF7 | 1.790904e+02 | 9.194528e-01 | 3.642937e-15 | 1.600318e-12 |
CB | DOWN | ENST00000426073.6 | ARHGEF7-208:protein_coding:ARHGEF7 | 9.296247e+02 | -1.051926e+00 | 5.988595e-06 | 6.826896e-05 |
CB | UP | ENST00000466143.5 | ARHGEF7-211:protein_coding:ARHGEF7 | 2.217029e+01 | 8.216201e-01 | 1.360547e-03 | 6.689949e-03 |
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 ARHGEF7 |
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_112176 | chr13 | 111153905:111153991:111205289:111205373:111217679:111217880 | 111205289:111205373 |
exon_skip_12244 | chr13 | 111288372:111288443:111292118:111292294:111300748:111300847 | 111292118:111292294 |
exon_skip_125113 | chr13 | 111267548:111267670:111273814:111273952:111274731:111274790 | 111273814:111273952 |
exon_skip_131700 | chr13 | 111159027:111159089:111205289:111205373:111209872:111210002 | 111205289:111205373 |
exon_skip_177320 | chr13 | 111205289:111205373:111209872:111210002:111217679:111217880 | 111209872:111210002 |
exon_skip_181071 | chr13 | 111115277:111115691:111153905:111153991:111205289:111205363 | 111153905:111153991 |
exon_skip_18165 | chr13 | 111205289:111205373:111209872:111210002:111217679:111217800 | 111209872:111210002 |
exon_skip_186554 | chr13 | 111277587:111277673:111280538:111280677:111283139:111283226 | 111280538:111280677 |
exon_skip_197150 | chr13 | 111153905:111153991:111205289:111205373:111217679:111217800 | 111205289:111205373 |
exon_skip_21802 | chr13 | 111277587:111277673:111280272:111280350:111280538:111280623 | 111280272:111280350 |
exon_skip_238037 | chr13 | 111288354:111288443:111292118:111292294:111300748:111300847 | 111292118:111292294 |
exon_skip_247670 | chr13 | 111153905:111153991:111159027:111159089:111205289:111205363 | 111159027:111159089 |
exon_skip_256357 | chr13 | 111153905:111153991:111159027:111159089:111205289:111205373 | 111159027:111159089 |
exon_skip_278686 | chr13 | 111205289:111205373:111209266:111209346:111209872:111210002 | 111209266:111209346 |
exon_skip_31530 | chr13 | 111115277:111115691:111153905:111153991:111205289:111205373 | 111153905:111153991 |
exon_skip_36311 | chr13 | 111277587:111277673:111280272:111280350:111280538:111280677 | 111280272:111280350 |
exon_skip_62176 | chr13 | 111288354:111288443:111292118:111292294:111300748:111300819 | 111292118:111292294 |
exon_skip_65278 | chr13 | 111286147:111286240:111288354:111288443:111300748:111300847 | 111288354:111288443 |
exon_skip_79633 | chr13 | 111153905:111153991:111205289:111205373:111209872:111210002 | 111205289:111205373 |
exon_skip_95030 | chr13 | 111265484:111265710:111266827:111266887:111267548:111267670 | 111266827:111266887 |
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 ARHGEF7 |
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 |
ENST00000375736 | 111205289 | 111205373 | 5UTR-5UTR |
ENST00000375736 | 111209872 | 111210002 | 5UTR-5UTR |
ENST00000426073 | 111209872 | 111210002 | 5UTR-5UTR |
ENST00000375736 | 111273814 | 111273952 | Frame-shift |
ENST00000426073 | 111273814 | 111273952 | Frame-shift |
ENST00000375736 | 111280272 | 111280350 | Frame-shift |
ENST00000426073 | 111280272 | 111280350 | Frame-shift |
ENST00000375736 | 111288354 | 111288443 | In-frame |
ENST00000426073 | 111288354 | 111288443 | 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 |
ENST00000375736 | 111205289 | 111205373 | 5UTR-5UTR |
ENST00000375736 | 111209872 | 111210002 | 5UTR-5UTR |
ENST00000426073 | 111209872 | 111210002 | 5UTR-5UTR |
ENST00000375736 | 111273814 | 111273952 | Frame-shift |
ENST00000426073 | 111273814 | 111273952 | Frame-shift |
ENST00000375736 | 111280272 | 111280350 | Frame-shift |
ENST00000426073 | 111280272 | 111280350 | Frame-shift |
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 |
ENST00000375736 | 111205289 | 111205373 | 5UTR-5UTR |
ENST00000375736 | 111209872 | 111210002 | 5UTR-5UTR |
ENST00000426073 | 111209872 | 111210002 | 5UTR-5UTR |
ENST00000375736 | 111280272 | 111280350 | Frame-shift |
ENST00000426073 | 111280272 | 111280350 | Frame-shift |
ENST00000375736 | 111288354 | 111288443 | In-frame |
ENST00000426073 | 111288354 | 111288443 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGEF7 |
p-ENSG00000102606_img4.png |
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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGEF7 |
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 ARHGEF7 |
- 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 ARHGEF7 |
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 |
CDR | MSBB | IFG | exon_skip_256357 | -4.298760e-01 | 2.242202e-02 | chr13 | + | 111153905 | 111153991 | 111159027 | 111159089 | 111205289 | 111205373 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF7 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ARHGEF7 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
HCC | DAZAP1 | exon_skip_238037 | -4.033471e-01 | 4.592414e-12 |
HCC | RBMS2 | exon_skip_238037 | -4.850762e-01 | 1.846632e-17 |
HCC | MSI1 | exon_skip_238037 | -4.960115e-01 | 2.682901e-18 |
HCC | RBM47 | exon_skip_238037 | -4.063225e-01 | 3.090623e-12 |
HCC | PTBP1 | exon_skip_238037 | -4.978438e-01 | 1.928721e-18 |
PCC | RBMS2 | exon_skip_238037 | -5.113811e-01 | 1.365447e-15 |
PCC | PTBP1 | exon_skip_238037 | -5.473822e-01 | 4.770708e-18 |
TC | RBMS2 | exon_skip_12244 | -4.865186e-01 | 7.931543e-11 |
TC | MSI1 | exon_skip_12244 | -5.508878e-01 | 5.328299e-14 |
TC | NOVA1 | exon_skip_12244 | 6.127293e-01 | 9.211308e-18 |
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RelatedDrugs for ARHGEF7 |
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 ARHGEF7 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |