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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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|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 | 20180519 | |
| UniProtAcc | Q92888 | |
| Context | PubMed: ARHGEF1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for ARHGEF1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ARHGEF1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ARHGEF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307621 | 19 | 42388514:42388560:42392134:42392177:42392262:42392349 | 42392134:42392177 | ENSG00000076928.13 | ENST00000337665.4,ENST00000378152.4 |
| exon_skip_307624 | 19 | 42392262:42392349:42392822:42392936:42396095:42396194 | 42392822:42392936 | ENSG00000076928.13 | ENST00000337665.4,ENST00000600274.1,ENST00000354532.3,ENST00000599846.1 |
| exon_skip_307625 | 19 | 42392822:42392936:42396095:42396194:42396401:42396444 | 42396095:42396194 | ENSG00000076928.13 | ENST00000337665.4,ENST00000354532.3,ENST00000599846.1 |
| exon_skip_307627 | 19 | 42398559:42398620:42398698:42398734:42399421:42399446 | 42398698:42398734 | ENSG00000076928.13 | ENST00000347545.4,ENST00000337665.4,ENST00000600274.1,ENST00000593869.1,ENST00000598812.1,ENST00000354532.3,ENST00000378152.4,ENST00000599846.1 |
| exon_skip_307628 | 19 | 42400449:42400555:42401463:42401475:42402094:42402131 | 42401463:42401475 | ENSG00000076928.13 | ENST00000599589.1,ENST00000594521.1 |
| exon_skip_307634 | 19 | 42400449:42400555:42402094:42402262:42402590:42402736 | 42402094:42402262 | ENSG00000076928.13 | ENST00000599846.1 |
| exon_skip_307637 | 19 | 42401463:42401475:42402094:42402262:42402590:42402736 | 42402094:42402262 | ENSG00000076928.13 | ENST00000599589.1,ENST00000594521.1 |
| exon_skip_307640 | 19 | 42402590:42402736:42404985:42405083:42406036:42406176 | 42404985:42405083 | ENSG00000076928.13 | ENST00000594044.1 |
| exon_skip_307641 | 19 | 42406423:42406506:42406682:42406808:42406933:42407047 | 42406682:42406808 | ENSG00000076928.13 | ENST00000347545.4,ENST00000594044.1,ENST00000337665.4,ENST00000600274.1,ENST00000599589.1,ENST00000595897.1,ENST00000594258.1,ENST00000354532.3,ENST00000378152.4,ENST00000599846.1 |
| exon_skip_307644 | 19 | 42406735:42406808:42406933:42407048:42407456:42407557 | 42406933:42407048 | ENSG00000076928.13 | ENST00000347545.4,ENST00000594044.1,ENST00000337665.4,ENST00000600274.1,ENST00000599589.1,ENST00000595897.1,ENST00000354532.3,ENST00000378152.4,ENST00000599846.1 |
| exon_skip_307647 | 19 | 42408411:42408535:42409100:42409188:42409326:42409413 | 42409100:42409188 | ENSG00000076928.13 | ENST00000347545.4,ENST00000337665.4,ENST00000600274.1,ENST00000599589.1,ENST00000595897.1,ENST00000354532.3,ENST00000378152.4,ENST00000599846.1 |
| exon_skip_307649 | 19 | 42408367:42408535:42409100:42409188:42409911:42409979 | 42409100:42409188 | ENSG00000076928.13 | ENST00000595723.1 |
| exon_skip_307651 | 19 | 42408367:42408535:42409326:42409413:42409911:42409979 | 42409326:42409413 | ENSG00000076928.13 | ENST00000600517.1 |
| exon_skip_307664 | 19 | 42409100:42409188:42409326:42409413:42409741:42409979 | 42409326:42409413 | ENSG00000076928.13 | ENST00000595897.1 |
| exon_skip_307665 | 19 | 42409100:42409188:42409326:42409413:42409911:42409979 | 42409326:42409413 | ENSG00000076928.13 | ENST00000347545.4,ENST00000337665.4,ENST00000600274.1,ENST00000599589.1,ENST00000354532.3,ENST00000378152.4,ENST00000599846.1 |
| exon_skip_307669 | 19 | 42410090:42410177:42410608:42410772:42410854:42410955 | 42410608:42410772 | ENSG00000076928.13 | ENST00000347545.4,ENST00000337665.4,ENST00000600274.1,ENST00000595897.1,ENST00000354532.3,ENST00000599846.1 |
| exon_skip_307675 | 19 | 42427245:42427385:42432982:42433138:42433806:42433998 | 42432982:42433138 | ENSG00000076928.13 | ENST00000594417.1 |
| exon_skip_307676 | 19 | 42427245:42427385:42433005:42433138:42433806:42433998 | 42433005:42433138 | ENSG00000076928.13 | ENST00000599589.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARHGEF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307621 | 19 | 42388514:42388560:42392134:42392177:42392262:42392349 | 42392134:42392177 | ENSG00000076928.13 | ENST00000378152.4,ENST00000337665.4 |
| exon_skip_307625 | 19 | 42392822:42392936:42396095:42396194:42396401:42396444 | 42396095:42396194 | ENSG00000076928.13 | ENST00000354532.3,ENST00000599846.1,ENST00000337665.4 |
| exon_skip_307627 | 19 | 42398559:42398620:42398698:42398734:42399421:42399446 | 42398698:42398734 | ENSG00000076928.13 | ENST00000354532.3,ENST00000600274.1,ENST00000599846.1,ENST00000347545.4,ENST00000378152.4,ENST00000337665.4,ENST00000598812.1,ENST00000593869.1 |
| exon_skip_307628 | 19 | 42400449:42400555:42401463:42401475:42402094:42402131 | 42401463:42401475 | ENSG00000076928.13 | ENST00000594521.1,ENST00000599589.1 |
| exon_skip_307634 | 19 | 42400449:42400555:42402094:42402262:42402590:42402736 | 42402094:42402262 | ENSG00000076928.13 | ENST00000599846.1 |
| exon_skip_307637 | 19 | 42401463:42401475:42402094:42402262:42402590:42402736 | 42402094:42402262 | ENSG00000076928.13 | ENST00000594521.1,ENST00000599589.1 |
| exon_skip_307640 | 19 | 42402590:42402736:42404985:42405083:42406036:42406176 | 42404985:42405083 | ENSG00000076928.13 | ENST00000594044.1 |
| exon_skip_307641 | 19 | 42406423:42406506:42406682:42406808:42406933:42407047 | 42406682:42406808 | ENSG00000076928.13 | ENST00000354532.3,ENST00000600274.1,ENST00000599846.1,ENST00000347545.4,ENST00000378152.4,ENST00000337665.4,ENST00000599589.1,ENST00000595897.1,ENST00000594258.1,ENST00000594044.1 |
| exon_skip_307644 | 19 | 42406735:42406808:42406933:42407048:42407456:42407557 | 42406933:42407048 | ENSG00000076928.13 | ENST00000354532.3,ENST00000600274.1,ENST00000599846.1,ENST00000347545.4,ENST00000378152.4,ENST00000337665.4,ENST00000599589.1,ENST00000595897.1,ENST00000594044.1 |
| exon_skip_307647 | 19 | 42408411:42408535:42409100:42409188:42409326:42409413 | 42409100:42409188 | ENSG00000076928.13 | ENST00000354532.3,ENST00000600274.1,ENST00000599846.1,ENST00000347545.4,ENST00000378152.4,ENST00000337665.4,ENST00000599589.1,ENST00000595897.1 |
| exon_skip_307649 | 19 | 42408367:42408535:42409100:42409188:42409911:42409979 | 42409100:42409188 | ENSG00000076928.13 | ENST00000595723.1 |
| exon_skip_307651 | 19 | 42408367:42408535:42409326:42409413:42409911:42409979 | 42409326:42409413 | ENSG00000076928.13 | ENST00000600517.1 |
| exon_skip_307664 | 19 | 42409100:42409188:42409326:42409413:42409741:42409979 | 42409326:42409413 | ENSG00000076928.13 | ENST00000595897.1 |
| exon_skip_307665 | 19 | 42409100:42409188:42409326:42409413:42409911:42409979 | 42409326:42409413 | ENSG00000076928.13 | ENST00000354532.3,ENST00000600274.1,ENST00000599846.1,ENST00000347545.4,ENST00000378152.4,ENST00000337665.4,ENST00000599589.1 |
| exon_skip_307669 | 19 | 42410090:42410177:42410608:42410772:42410854:42410955 | 42410608:42410772 | ENSG00000076928.13 | ENST00000354532.3,ENST00000600274.1,ENST00000599846.1,ENST00000347545.4,ENST00000337665.4,ENST00000595897.1 |
| exon_skip_307675 | 19 | 42427245:42427385:42432982:42433138:42433806:42433998 | 42432982:42433138 | ENSG00000076928.13 | ENST00000594417.1 |
| exon_skip_307676 | 19 | 42427245:42427385:42433005:42433138:42433806:42433998 | 42433005:42433138 | ENSG00000076928.13 | ENST00000599589.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000354532 | 42406933 | 42407048 | Frame-shift |
| ENST00000354532 | 42409100 | 42409188 | Frame-shift |
| ENST00000354532 | 42410608 | 42410772 | Frame-shift |
| ENST00000354532 | 42392822 | 42392936 | In-frame |
| ENST00000354532 | 42396095 | 42396194 | In-frame |
| ENST00000354532 | 42398698 | 42398734 | In-frame |
| ENST00000354532 | 42406682 | 42406808 | In-frame |
| ENST00000354532 | 42409326 | 42409413 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000354532 | 42406933 | 42407048 | Frame-shift |
| ENST00000354532 | 42409100 | 42409188 | Frame-shift |
| ENST00000354532 | 42410608 | 42410772 | Frame-shift |
| ENST00000354532 | 42396095 | 42396194 | In-frame |
| ENST00000354532 | 42398698 | 42398734 | In-frame |
| ENST00000354532 | 42406682 | 42406808 | In-frame |
| ENST00000354532 | 42409326 | 42409413 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGEF1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 42392822 | 42392936 | 260 | 373 | 37 | 75 |
| ENST00000354532 | 3260 | 912 | 42396095 | 42396194 | 374 | 472 | 75 | 108 |
| ENST00000354532 | 3260 | 912 | 42398698 | 42398734 | 990 | 1025 | 280 | 292 |
| ENST00000354532 | 3260 | 912 | 42406682 | 42406808 | 1646 | 1771 | 499 | 541 |
| ENST00000354532 | 3260 | 912 | 42409326 | 42409413 | 2398 | 2484 | 750 | 778 |
| Loci of skipped exons in GTEx 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 | 42396095 | 42396194 | 374 | 472 | 75 | 108 |
| ENST00000354532 | 3260 | 912 | 42398698 | 42398734 | 990 | 1025 | 280 | 292 |
| ENST00000354532 | 3260 | 912 | 42406682 | 42406808 | 1646 | 1771 | 499 | 541 |
| ENST00000354532 | 3260 | 912 | 42409326 | 42409413 | 2398 | 2484 | 750 | 778 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 | 37 | 75 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 37 | 75 | 41 | 232 | Domain | Note=RGSL |
| Q92888 | 37 | 75 | 49 | 52 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 37 | 75 | 56 | 69 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| Q92888 | 37 | 75 | 73 | 84 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IAP |
| 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 | 280 | 292 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 499 | 541 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 499 | 541 | 416 | 605 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q92888 | 499 | 541 | 493 | 500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 499 | 541 | 502 | 517 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 499 | 541 | 519 | 532 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 499 | 541 | 534 | 544 | 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 | 280 | 292 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 499 | 541 | 1 | 912 | Chain | ID=PRO_0000080906;Note=Rho guanine nucleotide exchange factor 1 |
| Q92888 | 499 | 541 | 416 | 605 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q92888 | 499 | 541 | 493 | 500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 499 | 541 | 502 | 517 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 499 | 541 | 519 | 532 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P6A |
| Q92888 | 499 | 541 | 534 | 544 | 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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SNVs in the skipped exons for ARHGEF1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
ARHGEF1_COAD_exon_skip_307669_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HNSC | TCGA-CR-6472-01 | exon_skip_307641 | 42406683 | 42406808 | 42406794 | 42406803 | Frame_Shift_Del | TGTGCCTTCG | - | p.C537fs |
| HNSC | TCGA-CR-6472-01 | exon_skip_307641 | 42406683 | 42406808 | 42406794 | 42406803 | Frame_Shift_Del | TGTGCCTTCG | - | p.CAFV593fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_307644 | 42406934 | 42407048 | 42407036 | 42407036 | Frame_Shift_Del | G | - | p.G632fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_307644 | 42406934 | 42407048 | 42407036 | 42407036 | Frame_Shift_Del | G | - | p.I590fs |
| COAD | TCGA-CK-5916-01 | exon_skip_307669 | 42410609 | 42410772 | 42410689 | 42410689 | Frame_Shift_Del | G | - | p.P872fs |
| DLBC | TCGA-G8-6909-01 | exon_skip_307647 exon_skip_307649 | 42409101 | 42409188 | 42409189 | 42409189 | Splice_Site | G | A | . |
| BRCA | TCGA-AR-A0U1-01 | exon_skip_307669 | 42410609 | 42410772 | 42410774 | 42410774 | Splice_Site | T | C | e27+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CK-5916-01 |
| Cancer type: COAD | |
| ESID: exon_skip_307669 | |
| Skipped exon start: 42410609 | |
| Skipped exon end: 42410772 | |
| Mutation start: 42410689 | |
| Mutation end: 42410689 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P872fs | |
exon_skip_307669_COAD_TCGA-CK-5916-01.png | |
exon_skip_339350_COAD_TCGA-CK-5916-01.png | |
exon_skip_339352_COAD_TCGA-CK-5916-01.png | |
exon_skip_377604_COAD_TCGA-CK-5916-01.png | |
exon_skip_470072_COAD_TCGA-CK-5916-01.png | |
exon_skip_503611_COAD_TCGA-CK-5916-01.png | |
exon_skip_51385_COAD_TCGA-CK-5916-01.png | |
| - 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 |
| NCIH1048_LUNG | 42410609 | 42410772 | 42410689 | 42410689 | Frame_Shift_Del | G | - | p.G860fs |
| HEC151_ENDOMETRIUM | 42392135 | 42392177 | 42392171 | 42392172 | Frame_Shift_Ins | - | G | p.G7fs |
| HEC1A_ENDOMETRIUM | 42410609 | 42410772 | 42410635 | 42410636 | In_Frame_Ins | - | CGG | p.841_842insA |
| HEC1_ENDOMETRIUM | 42410609 | 42410772 | 42410635 | 42410636 | In_Frame_Ins | - | CGG | p.841_842insA |
| HEC1B_ENDOMETRIUM | 42410609 | 42410772 | 42410635 | 42410636 | In_Frame_Ins | - | CGG | p.841_842insA |
| CW2_LARGE_INTESTINE | 42392823 | 42392936 | 42392826 | 42392826 | Missense_Mutation | T | A | p.S39T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 42392823 | 42392936 | 42392834 | 42392834 | Missense_Mutation | G | T | p.E41D |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42392823 | 42392936 | 42392843 | 42392843 | Missense_Mutation | C | A | p.S44R |
| G361_SKIN | 42396096 | 42396194 | 42396114 | 42396114 | Missense_Mutation | G | A | p.D82N |
| MFE296_ENDOMETRIUM | 42396096 | 42396194 | 42396130 | 42396130 | Missense_Mutation | T | A | p.L87Q |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42396096 | 42396194 | 42396139 | 42396139 | Missense_Mutation | A | G | p.K90R |
| CW2_LARGE_INTESTINE | 42398699 | 42398734 | 42398705 | 42398705 | Missense_Mutation | A | T | p.D283V |
| HCC2998_LARGE_INTESTINE | 42406683 | 42406808 | 42406741 | 42406741 | Missense_Mutation | A | C | p.Q519P |
| SNU1040_LARGE_INTESTINE | 42406934 | 42407048 | 42406952 | 42406952 | Missense_Mutation | C | T | p.R548W |
| HEC1A_ENDOMETRIUM | 42406934 | 42407048 | 42406961 | 42406961 | Missense_Mutation | C | T | p.R551C |
| HEC1_ENDOMETRIUM | 42406934 | 42407048 | 42406961 | 42406961 | Missense_Mutation | C | T | p.R551C |
| HEC1B_ENDOMETRIUM | 42406934 | 42407048 | 42406961 | 42406961 | Missense_Mutation | C | T | p.R551C |
| HEC1A_ENDOMETRIUM | 42406934 | 42407048 | 42406977 | 42406977 | Missense_Mutation | A | G | p.D556G |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42406934 | 42407048 | 42406978 | 42406978 | Missense_Mutation | C | A | p.D556E |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42406934 | 42407048 | 42406989 | 42406989 | Missense_Mutation | C | T | p.T560M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42406934 | 42407048 | 42407000 | 42407000 | Missense_Mutation | C | T | p.R564W |
| HEC1_ENDOMETRIUM | 42406934 | 42407048 | 42407036 | 42407036 | Missense_Mutation | G | A | p.G576R |
| HEC1B_ENDOMETRIUM | 42406934 | 42407048 | 42407036 | 42407036 | Missense_Mutation | G | A | p.G576R |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42409101 | 42409188 | 42409121 | 42409121 | Missense_Mutation | C | T | p.L728F |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42409101 | 42409188 | 42409121 | 42409121 | Missense_Mutation | C | T | p.L728F |
| BT474_BREAST | 42410609 | 42410772 | 42410639 | 42410639 | Missense_Mutation | C | T | p.A841V |
| 639V_URINARY_TRACT | 42410609 | 42410772 | 42410669 | 42410669 | Missense_Mutation | G | A | p.R851Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42410609 | 42410772 | 42410681 | 42410681 | Missense_Mutation | G | A | p.G855E |
| 22RV1_PROSTATE | 42410609 | 42410772 | 42410713 | 42410713 | Missense_Mutation | C | T | p.R866W |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42392823 | 42392936 | 42392901 | 42392901 | Nonsense_Mutation | C | T | p.Q64* |
| HEC59_ENDOMETRIUM | 42409101 | 42409188 | 42409166 | 42409166 | Nonsense_Mutation | C | T | p.Q743* |
| A2780_OVARY | 42410609 | 42410772 | 42410609 | 42410609 | Splice_Site | T | C | p.V831A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGEF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGEF1 |
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RelatedDrugs for ARHGEF1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
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