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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ARHGAP1 |
 Gene summary |
| Gene information | Gene symbol | ARHGAP1 | Gene ID | 392 |
| Gene name | Rho GTPase activating protein 1 | |
| Synonyms | CDC42GAP|RHOGAP|RHOGAP1|p50rhoGAP | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | rho GTPase-activating protein 1CDC42 GTPase-activating proteinGTPase-activating protein rhoGAPGTPase-activating protein rhoOGAPGTPase-activating protein, Rho, 1rho-related small GTPase protein activatorrho-type GTPase-activating protein 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ARHGAP1 | GO:0007264 | small GTPase mediated signal transduction | 8253717|8288572 |
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Gene structures and expression levels for ARHGAP1 |
| 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. |
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ENSG00000175220
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000528837.5 | ARHGAP1-206:protein_coding:ARHGAP1 | 7.938355e+00 | 1.084612e+00 | 1.228703e-07 | 2.529822e-06 |
| 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 ARHGAP1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_210250 | chr11 | 46679648:46679776:46680205:46680282:46680487:46680563 | 46680205:46680282 |
| exon_skip_216993 | chr11 | 46679365:46679468:46679648:46679776:46680205:46680282 | 46679648:46679776 |
| exon_skip_229637 | chr11 | 46681293:46681379:46682051:46682182:46688173:46688260 | 46682051:46682182 |
| exon_skip_66960 | chr11 | 46679451:46679468:46679648:46679776:46680205:46680282 | 46679648:46679776 |
| exon_skip_83097 | chr11 | 46679451:46679468:46679648:46679831:46680205:46680282 | 46679648:46679831 |
| exon_skip_90294 | chr11 | 46679365:46679468:46679648:46679831:46680205:46680282 | 46679648:46679831 |
| 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 ARHGAP1 |
| 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 |
| ENST00000311956 | 46679648 | 46679776 | In-frame |
| ENST00000311956 | 46682051 | 46682182 | 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 |
| ENST00000311956 | 46682051 | 46682182 | 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 |
| ENST00000311956 | 46679648 | 46679776 | In-frame |
| ENST00000311956 | 46680205 | 46680282 | In-frame |
| ENST00000311956 | 46682051 | 46682182 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGAP1 |
p-ENSG00000175220_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 |
| ENST00000311956 | 3392 | 439 | 46682051 | 46682182 | 416 | 546 | 106 | 149 |
| ENST00000311956 | 3392 | 439 | 46679648 | 46679776 | 997 | 1124 | 299 | 342 |
| 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 |
| ENST00000311956 | 3392 | 439 | 46682051 | 46682182 | 416 | 546 | 106 | 149 |
| 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 |
| ENST00000311956 | 3392 | 439 | 46682051 | 46682182 | 416 | 546 | 106 | 149 |
| ENST00000311956 | 3392 | 439 | 46680205 | 46680282 | 919 | 995 | 273 | 299 |
| ENST00000311956 | 3392 | 439 | 46679648 | 46679776 | 997 | 1124 | 299 | 342 |
| 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 |
| Q07960 | 106 | 149 | 1 | 439 | Chain | ID=PRO_0000056700;Note=Rho GTPase-activating protein 1 |
| Q07960 | 106 | 149 | 63 | 218 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q07960 | 299 | 342 | 325 | 327 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 1 | 439 | Chain | ID=PRO_0000056700;Note=Rho GTPase-activating protein 1 |
| Q07960 | 299 | 342 | 244 | 431 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
| Q07960 | 299 | 342 | 305 | 307 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 312 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 332 | 334 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 335 | 339 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 341 | 343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| 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 |
| Q07960 | 106 | 149 | 1 | 439 | Chain | ID=PRO_0000056700;Note=Rho GTPase-activating protein 1 |
| Q07960 | 106 | 149 | 63 | 218 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| 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 |
| Q07960 | 106 | 149 | 1 | 439 | Chain | ID=PRO_0000056700;Note=Rho GTPase-activating protein 1 |
| Q07960 | 106 | 149 | 63 | 218 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q07960 | 273 | 299 | 1 | 439 | Chain | ID=PRO_0000056700;Note=Rho GTPase-activating protein 1 |
| Q07960 | 273 | 299 | 244 | 431 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
| Q07960 | 273 | 299 | 261 | 273 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 273 | 299 | 287 | 298 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 273 | 299 | 282 | 282 | Site | Note=Involved in G-protein binding to GAPs;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q07960 | 273 | 299 | 274 | 276 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5M6X |
| Q07960 | 273 | 299 | 278 | 282 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 325 | 327 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 1 | 439 | Chain | ID=PRO_0000056700;Note=Rho GTPase-activating protein 1 |
| Q07960 | 299 | 342 | 244 | 431 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
| Q07960 | 299 | 342 | 305 | 307 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 312 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 332 | 334 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 335 | 339 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
| Q07960 | 299 | 342 | 341 | 343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TX4 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGAP1 |
| 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 ARHGAP1 |
| - 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 ARHGAP1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP1 |
| 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 ARHGAP1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_229637 | -4.555998e-01 | 2.284446e-09 |
| CB | CNOT4 | exon_skip_229637 | -4.440349e-01 | 6.390179e-09 |
| CB | PCBP4 | exon_skip_229637 | 5.552580e-01 | 5.371022e-14 |
| CB | TRA2A | exon_skip_229637 | -4.631009e-01 | 1.148122e-09 |
| CB | HNRNPA2B1 | exon_skip_229637 | -4.228773e-01 | 3.809215e-08 |
| CB | NUP42 | exon_skip_229637 | 4.312031e-01 | 1.914503e-08 |
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RelatedDrugs for ARHGAP1 |
| 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 ARHGAP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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