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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 ARHGEF1 |
 Gene summary |
| Gene information | Gene symbol | ARHGEF1 | Gene ID | 9138 |
| Gene name | Rho guanine nucleotide exchange factor 1 | |
| Synonyms | GEF1|IMD62|LBCL2|LSC|P115-RHOGEF|SUB1.5 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | rho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF | |
| Modification date | 20200320 | |
| 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 |
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Gene structures and expression levels for ARHGEF1 |
| 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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ENSG00000076928
| 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 |
| PG | UP | ENST00000594258.1 | ARHGEF1-207:protein_coding:ARHGEF1 | 2.465654e+00 | 1.908607e+00 | 4.371472e-04 | 8.028790e-03 |
| CB | DOWN | ENST00000593609.1 | ARHGEF1-205:retained_intron:ARHGEF1 | 1.836034e+01 | -2.187846e+00 | 1.006967e-10 | 6.344366e-09 |
| CB | DOWN | ENST00000595770.1 | ARHGEF1-212:lncRNA:ARHGEF1 | 1.181916e+01 | -8.120060e-01 | 2.796445e-06 | 3.594094e-05 |
| TC | DOWN | ENST00000593609.1 | ARHGEF1-205:retained_intron:ARHGEF1 | 1.230096e+01 | -2.414604e+00 | 1.105480e-09 | 1.440014e-07 |
| TC | DOWN | ENST00000596957.1 | ARHGEF1-214:lncRNA:ARHGEF1 | 3.244794e+00 | -1.115951e+00 | 3.883816e-05 | 7.586512e-04 |
| 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 ARHGEF1 |
| 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 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_182803 | Mayo_TC | 4.753086e-01 | 6.034286e-01 | -1.281199e-01 | 1.263367e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for ARHGEF1 |
| 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 |
| ENST00000354532 | 41902784 | 41902898 | Frame-shift |
| ENST00000354532 | 41904949 | 41905036 | Frame-shift |
| ENST00000354532 | 41906457 | 41906620 | Frame-shift |
| ENST00000354532 | 41892025 | 41892123 | In-frame |
| ENST00000354532 | 41905175 | 41905261 | 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 |
| ENST00000354532 | 41906457 | 41906620 | Frame-shift |
| ENST00000354532 | 41892025 | 41892123 | In-frame |
| ENST00000354532 | 41894626 | 41894661 | In-frame |
| ENST00000354532 | 41905175 | 41905261 | 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 |
| ENST00000354532 | 41902784 | 41902898 | Frame-shift |
| ENST00000354532 | 41904949 | 41905036 | Frame-shift |
| ENST00000354532 | 41906457 | 41906620 | Frame-shift |
| ENST00000354532 | 41892025 | 41892123 | In-frame |
| ENST00000354532 | 41894626 | 41894661 | In-frame |
| ENST00000354532 | 41903707 | 41903784 | In-frame |
| ENST00000354532 | 41905175 | 41905261 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGEF1 |
p-ENSG00000076928_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 |
| ENST00000354532 | 3260 | 912 | 41892025 | 41892123 | 375 | 472 | 75 | 108 |
| ENST00000354532 | 3260 | 912 | 41905175 | 41905261 | 2399 | 2484 | 750 | 778 |
| 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 |
| ENST00000354532 | 3260 | 912 | 41892025 | 41892123 | 375 | 472 | 75 | 108 |
| ENST00000354532 | 3260 | 912 | 41894626 | 41894661 | 991 | 1025 | 281 | 292 |
| ENST00000354532 | 3260 | 912 | 41905175 | 41905261 | 2399 | 2484 | 750 | 778 |
| 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 |
| ENST00000354532 | 3260 | 912 | 41892025 | 41892123 | 375 | 472 | 75 | 108 |
| ENST00000354532 | 3260 | 912 | 41894626 | 41894661 | 991 | 1025 | 281 | 292 |
| ENST00000354532 | 3260 | 912 | 41903707 | 41903784 | 1989 | 2065 | 613 | 639 |
| ENST00000354532 | 3260 | 912 | 41905175 | 41905261 | 2399 | 2484 | 750 | 778 |
| 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 |
| Q92888 | 75 | 108 | 76 | 108 | Alternative sequence | ID=VSP_008125;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92888 | 75 | 108 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 75 | 108 | 41 | 232 | Domain | Note=RGSL |
| Q92888 | 75 | 108 | 73 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 75 | 108 | 89 | 103 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 750 | 778 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 750 | 778 | 647 | 760 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q92888 | 750 | 778 | 745 | 760 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 750 | 778 | 752 | 752 | Sequence conflict | Note=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92888 | 750 | 778 | 776 | 776 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q92888 | 75 | 108 | 76 | 108 | Alternative sequence | ID=VSP_008125;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92888 | 75 | 108 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 75 | 108 | 41 | 232 | Domain | Note=RGSL |
| Q92888 | 75 | 108 | 73 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 75 | 108 | 89 | 103 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 281 | 292 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 750 | 778 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 750 | 778 | 647 | 760 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q92888 | 750 | 778 | 745 | 760 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 750 | 778 | 752 | 752 | Sequence conflict | Note=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92888 | 750 | 778 | 776 | 776 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q92888 | 75 | 108 | 76 | 108 | Alternative sequence | ID=VSP_008125;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92888 | 75 | 108 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 75 | 108 | 41 | 232 | Domain | Note=RGSL |
| Q92888 | 75 | 108 | 73 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 75 | 108 | 89 | 103 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 281 | 292 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 613 | 639 | 636 | 638 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 613 | 639 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 613 | 639 | 582 | 621 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 613 | 639 | 625 | 629 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 613 | 639 | 633 | 635 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 750 | 778 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 750 | 778 | 647 | 760 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q92888 | 750 | 778 | 745 | 760 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 750 | 778 | 752 | 752 | Sequence conflict | Note=C->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92888 | 750 | 778 | 776 | 776 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGEF1 |
| 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 ARHGEF1 |
| - 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 ARHGEF1 |
| 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 ARHGEF1 |
| 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 ARHGEF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | RBFOX2 | exon_skip_251751 | -4.787157e-01 | 2.033747e-18 |
| PCC | RBFOX2 | exon_skip_251751 | -4.870935e-01 | 5.169266e-13 |
| TC | SFPQ | exon_skip_5046 | 4.208981e-01 | 1.531654e-06 |
| TC | PCBP4 | exon_skip_5046 | 4.349341e-01 | 6.194359e-07 |
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RelatedDrugs for ARHGEF1 |
| 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 ARHGEF1 |
| 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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