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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 ARHGEF12 |
 Gene summary |
| Gene information | Gene symbol | ARHGEF12 | Gene ID | 23365 |
| Gene name | Rho guanine nucleotide exchange factor 12 | |
| Synonyms | LARG|PRO2792 | |
| Cytomap | 11q23.3 | |
| Type of gene | protein-coding | |
| Description | rho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factor | |
| 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 |
| ARHGEF12 | GO:0007186 | G protein-coupled receptor signaling pathway | 15755723 |
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Gene structures and expression levels for ARHGEF12 |
| 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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ENSG00000196914
| 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 | ENST00000356641.7 | ARHGEF12-201:protein_coding:ARHGEF12 | 5.950760e+01 | 1.350067e+00 | 2.178983e-08 | 5.855704e-07 |
| TC | UP | ENST00000356641.7 | ARHGEF12-201:protein_coding:ARHGEF12 | 8.958377e+01 | 1.437366e+00 | 5.837216e-11 | 1.227971e-08 |
| 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 ARHGEF12 |
| 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_112682 | chr11 | 120420753:120420851:120421803:120421852:120424358:120424415 | 120421803:120421852 |
| exon_skip_137826 | chr11 | 120407738:120407823:120409394:120409450:120420753:120420767 | 120409394:120409450 |
| exon_skip_140708 | chr11 | 120469288:120469388:120473050:120473127:120474560:120474635 | 120473050:120473127 |
| exon_skip_170303 | chr11 | 120429712:120429831:120431771:120431911:120437308:120437382 | 120431771:120431911 |
| exon_skip_174982 | chr11 | 120407738:120407823:120409394:120409450:120420753:120420851 | 120409394:120409450 |
| exon_skip_179650 | chr11 | 120449109:120449214:120451512:120451724:120457118:120457250 | 120451512:120451724 |
| exon_skip_196701 | chr11 | 120440129:120440221:120441707:120441817:120442104:120442202 | 120441707:120441817 |
| exon_skip_210632 | chr11 | 120475340:120475507:120476661:120476748:120477219:120477305 | 120476661:120476748 |
| exon_skip_214673 | chr11 | 120460672:120460757:120465237:120465362:120467194:120467308 | 120465237:120465362 |
| exon_skip_221664 | chr11 | 120431771:120431911:120437308:120437382:120440129:120440221 | 120437308:120437382 |
| exon_skip_291242 | chr11 | 120407738:120407823:120409394:120409450:120420753:120420808 | 120409394:120409450 |
| exon_skip_32555 | chr11 | 120385321:120385486:120406118:120406141:120407738:120407823 | 120406118:120406141 |
| exon_skip_54972 | chr11 | 120473050:120473127:120474560:120474635:120475340:120475507 | 120474560:120474635 |
| exon_skip_65841 | chr11 | 120429440:120429517:120429712:120429831:120431771:120431911 | 120429712:120429831 |
| exon_skip_80440 | chr11 | 120441707:120441817:120442104:120442202:120445422:120445464 | 120442104:120442202 |
| exon_skip_88929 | chr11 | 120442104:120442202:120445422:120445464:120446403:120446508 | 120445422:120445464 |
| exon_skip_92115 | chr11 | 120407738:120407823:120409394:120409450:120420753:120420770 | 120409394:120409450 |
| 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_137826 | Mayo_TC | 6.212195e-01 | 7.229730e-01 | -1.017535e-01 | 1.009675e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for ARHGEF12 |
| 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 |
| ENST00000397843 | 120421803 | 120421852 | Frame-shift |
| ENST00000397843 | 120409394 | 120409450 | In-frame |
| ENST00000397843 | 120429712 | 120429831 | In-frame |
| ENST00000397843 | 120431771 | 120431911 | In-frame |
| ENST00000397843 | 120437308 | 120437382 | In-frame |
| ENST00000397843 | 120441707 | 120441817 | In-frame |
| ENST00000397843 | 120451512 | 120451724 | In-frame |
| ENST00000397843 | 120465237 | 120465362 | 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 |
| ENST00000397843 | 120409394 | 120409450 | In-frame |
| ENST00000397843 | 120429712 | 120429831 | In-frame |
| ENST00000397843 | 120437308 | 120437382 | In-frame |
| ENST00000397843 | 120441707 | 120441817 | In-frame |
| ENST00000397843 | 120451512 | 120451724 | In-frame |
| ENST00000397843 | 120465237 | 120465362 | 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 |
| ENST00000397843 | 120421803 | 120421852 | Frame-shift |
| ENST00000397843 | 120445422 | 120445464 | Frame-shift |
| ENST00000397843 | 120474560 | 120474635 | Frame-shift |
| ENST00000397843 | 120476661 | 120476748 | Frame-shift |
| ENST00000397843 | 120409394 | 120409450 | In-frame |
| ENST00000397843 | 120429712 | 120429831 | In-frame |
| ENST00000397843 | 120431771 | 120431911 | In-frame |
| ENST00000397843 | 120437308 | 120437382 | In-frame |
| ENST00000397843 | 120441707 | 120441817 | In-frame |
| ENST00000397843 | 120442104 | 120442202 | In-frame |
| ENST00000397843 | 120451512 | 120451724 | In-frame |
| ENST00000397843 | 120465237 | 120465362 | In-frame |
| ENST00000397843 | 120473050 | 120473127 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGEF12 |
p-ENSG00000196914_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 |
| ENST00000397843 | 9677 | 1544 | 120409394 | 120409450 | 310 | 365 | 48 | 66 |
| ENST00000397843 | 9677 | 1544 | 120429712 | 120429831 | 831 | 949 | 221 | 261 |
| ENST00000397843 | 9677 | 1544 | 120431771 | 120431911 | 951 | 1090 | 261 | 308 |
| ENST00000397843 | 9677 | 1544 | 120437308 | 120437382 | 1092 | 1165 | 308 | 333 |
| ENST00000397843 | 9677 | 1544 | 120441707 | 120441817 | 1260 | 1369 | 364 | 401 |
| ENST00000397843 | 9677 | 1544 | 120451512 | 120451724 | 2011 | 2222 | 615 | 685 |
| ENST00000397843 | 9677 | 1544 | 120465237 | 120465362 | 2781 | 2905 | 871 | 913 |
| 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 |
| ENST00000397843 | 9677 | 1544 | 120409394 | 120409450 | 310 | 365 | 48 | 66 |
| ENST00000397843 | 9677 | 1544 | 120429712 | 120429831 | 831 | 949 | 221 | 261 |
| ENST00000397843 | 9677 | 1544 | 120437308 | 120437382 | 1092 | 1165 | 308 | 333 |
| ENST00000397843 | 9677 | 1544 | 120441707 | 120441817 | 1260 | 1369 | 364 | 401 |
| ENST00000397843 | 9677 | 1544 | 120451512 | 120451724 | 2011 | 2222 | 615 | 685 |
| ENST00000397843 | 9677 | 1544 | 120465237 | 120465362 | 2781 | 2905 | 871 | 913 |
| 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 |
| ENST00000397843 | 9677 | 1544 | 120409394 | 120409450 | 310 | 365 | 48 | 66 |
| ENST00000397843 | 9677 | 1544 | 120429712 | 120429831 | 831 | 949 | 221 | 261 |
| ENST00000397843 | 9677 | 1544 | 120431771 | 120431911 | 951 | 1090 | 261 | 308 |
| ENST00000397843 | 9677 | 1544 | 120437308 | 120437382 | 1092 | 1165 | 308 | 333 |
| ENST00000397843 | 9677 | 1544 | 120441707 | 120441817 | 1260 | 1369 | 364 | 401 |
| ENST00000397843 | 9677 | 1544 | 120442104 | 120442202 | 1371 | 1468 | 401 | 434 |
| ENST00000397843 | 9677 | 1544 | 120451512 | 120451724 | 2011 | 2222 | 615 | 685 |
| ENST00000397843 | 9677 | 1544 | 120465237 | 120465362 | 2781 | 2905 | 871 | 913 |
| ENST00000397843 | 9677 | 1544 | 120473050 | 120473127 | 3123 | 3199 | 985 | 1011 |
| 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 |
| Q9NZN5 | 48 | 66 | 48 | 66 | Alternative sequence | ID=VSP_008131;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10681437,ECO:0000303|PubMed:15489334;Dbxref=PMID:10681437,PMID:15489334 |
| Q9NZN5 | 48 | 66 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 221 | 261 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 221 | 261 | 194 | 262 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZN5 | 261 | 308 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 261 | 308 | 194 | 262 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZN5 | 261 | 308 | 308 | 309 | Site | Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene |
| Q9NZN5 | 308 | 333 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 308 | 333 | 309 | 309 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9NZN5 | 308 | 333 | 308 | 309 | Site | Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene |
| Q9NZN5 | 364 | 401 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 364 | 401 | 367 | 558 | Domain | Note=RGSL |
| Q9NZN5 | 615 | 685 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 615 | 685 | 637 | 637 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569 |
| Q9NZN5 | 871 | 913 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 871 | 913 | 787 | 977 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9NZN5 | 871 | 913 | 865 | 872 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 875 | 889 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 891 | 904 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 906 | 917 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| 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 |
| Q9NZN5 | 48 | 66 | 48 | 66 | Alternative sequence | ID=VSP_008131;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10681437,ECO:0000303|PubMed:15489334;Dbxref=PMID:10681437,PMID:15489334 |
| Q9NZN5 | 48 | 66 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 221 | 261 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 221 | 261 | 194 | 262 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZN5 | 308 | 333 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 308 | 333 | 309 | 309 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9NZN5 | 308 | 333 | 308 | 309 | Site | Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene |
| Q9NZN5 | 364 | 401 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 364 | 401 | 367 | 558 | Domain | Note=RGSL |
| Q9NZN5 | 615 | 685 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 615 | 685 | 637 | 637 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569 |
| Q9NZN5 | 871 | 913 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 871 | 913 | 787 | 977 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9NZN5 | 871 | 913 | 865 | 872 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 875 | 889 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 891 | 904 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 906 | 917 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| 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 |
| Q9NZN5 | 48 | 66 | 48 | 66 | Alternative sequence | ID=VSP_008131;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10681437,ECO:0000303|PubMed:15489334;Dbxref=PMID:10681437,PMID:15489334 |
| Q9NZN5 | 48 | 66 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 221 | 261 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 221 | 261 | 194 | 262 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZN5 | 261 | 308 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 261 | 308 | 194 | 262 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZN5 | 261 | 308 | 308 | 309 | Site | Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene |
| Q9NZN5 | 308 | 333 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 308 | 333 | 309 | 309 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9NZN5 | 308 | 333 | 308 | 309 | Site | Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene |
| Q9NZN5 | 364 | 401 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 364 | 401 | 367 | 558 | Domain | Note=RGSL |
| Q9NZN5 | 401 | 434 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 401 | 434 | 367 | 558 | Domain | Note=RGSL |
| Q9NZN5 | 615 | 685 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 615 | 685 | 637 | 637 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569 |
| Q9NZN5 | 871 | 913 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 871 | 913 | 787 | 977 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9NZN5 | 871 | 913 | 865 | 872 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 875 | 889 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 891 | 904 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 871 | 913 | 906 | 917 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 985 | 1011 | 1001 | 1003 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X86 |
| Q9NZN5 | 985 | 1011 | 2 | 1544 | Chain | ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12 |
| Q9NZN5 | 985 | 1011 | 954 | 993 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
| Q9NZN5 | 985 | 1011 | 1005 | 1007 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X86 |
| Q9NZN5 | 985 | 1011 | 1008 | 1011 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TXD |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGEF12 |
| 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 ARHGEF12 |
| - 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 ARHGEF12 |
| 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 ARHGEF12 |
| 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 ARHGEF12 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF2 | exon_skip_291242 | 4.542642e-01 | 4.143997e-09 |
| CB | HNRNPD | exon_skip_291242 | 5.053749e-01 | 3.130756e-11 |
| CB | NUP42 | exon_skip_291242 | 5.846785e-01 | 2.602151e-15 |
| CB | SRSF9 | exon_skip_291242 | 4.814434e-01 | 3.409660e-10 |
| FL | SRSF2 | exon_skip_291242 | 6.205817e-01 | 1.821232e-22 |
| FL | ENOX1 | exon_skip_291242 | 5.180165e-01 | 5.462260e-15 |
| FL | NUP42 | exon_skip_291242 | 5.381657e-01 | 2.917903e-16 |
| FL | CELF1 | exon_skip_291242 | 5.108927e-01 | 1.470365e-14 |
| FL | SRSF1 | exon_skip_291242 | 5.987416e-01 | 1.202293e-20 |
| FL | SRSF9 | exon_skip_291242 | 6.427537e-01 | 1.824274e-24 |
| HCC | RBMS2 | exon_skip_291242 | -6.152701e-01 | 1.007747e-29 |
| HCC | PABPN1 | exon_skip_291242 | -4.986298e-01 | 1.673088e-18 |
| HCC | RBM28 | exon_skip_291242 | -4.108919e-01 | 1.669450e-12 |
| HCC | UNK | exon_skip_291242 | -4.664469e-01 | 4.230861e-16 |
| HCC | HNRNPAB | exon_skip_291242 | -4.298932e-01 | 1.163574e-13 |
| IFG | RBM28 | exon_skip_294287 | 5.248988e-01 | 8.449550e-03 |
| IFG | PCBP4 | exon_skip_65841 | -4.071021e-01 | 3.154836e-02 |
| PCC | RBMS2 | exon_skip_291242 | -6.732163e-01 | 3.252013e-29 |
| PCC | RBMS3 | exon_skip_291242 | -4.282510e-01 | 8.053027e-11 |
| STG | SRSF2 | exon_skip_174982 | 4.580096e-01 | 4.996516e-06 |
| STG | NUP42 | exon_skip_174982 | 4.790538e-01 | 1.557489e-06 |
| STG | CELF1 | exon_skip_174982 | 4.229897e-01 | 2.952197e-05 |
| STG | SRSF1 | exon_skip_174982 | 4.432740e-01 | 1.080658e-05 |
| STG | SRSF9 | exon_skip_174982 | 5.181563e-01 | 1.436501e-07 |
| TC | RBMS2 | exon_skip_137826 | -5.322045e-01 | 8.675913e-13 |
| TC | SRSF2 | exon_skip_137826 | 4.434357e-01 | 6.733017e-09 |
| TC | HNRNPD | exon_skip_137826 | 4.163271e-01 | 6.460808e-08 |
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RelatedDrugs for ARHGEF12 |
| 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 ARHGEF12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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