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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 ARHGEF10L |
 Gene summary |
| Gene information | Gene symbol | ARHGEF10L | Gene ID | 55160 |
| Gene name | Rho guanine nucleotide exchange factor 10 like | |
| Synonyms | GrinchGEF | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | rho guanine nucleotide exchange factor 10-like proteinRho guanine nucleotide exchange factor (GEF) 10-like | |
| 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 |
| ARHGEF10L | GO:0032933 | SREBP signaling pathway | 16112081 |
| ARHGEF10L | GO:0051496 | positive regulation of stress fiber assembly | 16112081 |
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Gene structures and expression levels for ARHGEF10L |
| 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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ENSG00000074964
| 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 | DOWN | ENST00000375408.7 | ARHGEF10L-203:protein_coding:ARHGEF10L | 5.309367e+02 | -8.311362e-01 | 1.924635e-06 | 2.614845e-05 |
| 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 ARHGEF10L |
| 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_100556 | chr1 | 17622996:17623175:17624387:17624503:17625956:17626048 | 17624387:17624503 |
| exon_skip_105168 | chr1 | 17603508:17603591:17607802:17607977:17613058:17613174 | 17607802:17607977 |
| exon_skip_109049 | chr1 | 17619339:17619445:17621864:17621941:17622996:17623175 | 17621864:17621941 |
| exon_skip_122300 | chr1 | 17624443:17624503:17625956:17626048:17627330:17627405 | 17625956:17626048 |
| exon_skip_122355 | chr1 | 17603508:17603591:17607802:17607977:17616094:17616202 | 17607802:17607977 |
| exon_skip_124619 | chr1 | 17603511:17603591:17607802:17607977:17616094:17616202 | 17607802:17607977 |
| exon_skip_132717 | chr1 | 17607802:17607977:17616094:17616202:17619339:17619445 | 17616094:17616202 |
| exon_skip_16864 | chr1 | 17687573:17687747:17691120:17691192:17695158:17695280 | 17691120:17691192 |
| exon_skip_178294 | chr1 | 17648554:17648675:17654636:17654722:17655879:17656102 | 17654636:17654722 |
| exon_skip_205243 | chr1 | 17687573:17687747:17695158:17695280:17696848:17697649 | 17695158:17695280 |
| exon_skip_209546 | chr1 | 17656554:17656708:17664447:17664595:17687573:17687747 | 17664447:17664595 |
| exon_skip_230098 | chr1 | 17616103:17616202:17619339:17619445:17621864:17621941 | 17619339:17619445 |
| exon_skip_249830 | chr1 | 17624387:17624503:17625956:17626048:17627330:17627503 | 17625956:17626048 |
| exon_skip_258758 | chr1 | 17634835:17635016:17637888:17638003:17638562:17638689 | 17637888:17638003 |
| exon_skip_264261 | chr1 | 17603511:17603591:17607802:17607977:17613058:17613161 | 17607802:17607977 |
| exon_skip_285140 | chr1 | 17640202:17640302:17648554:17648675:17654636:17654665 | 17648554:17648675 |
| exon_skip_28903 | chr1 | 17623107:17623175:17624387:17624503:17625956:17626048 | 17624387:17624503 |
| exon_skip_289624 | chr1 | 17656675:17656708:17664447:17664595:17687573:17687747 | 17664447:17664595 |
| exon_skip_43942 | chr1 | 17607802:17607977:17613058:17613174:17616094:17616202 | 17613058:17613174 |
| exon_skip_52394 | chr1 | 17632321:17632466:17634548:17634562:17634835:17635016 | 17634548:17634562 |
| exon_skip_54921 | chr1 | 17616094:17616202:17619339:17619445:17621864:17621941 | 17619339:17619445 |
| exon_skip_56778 | chr1 | 17632321:17632466:17634548:17634562:17634835:17634876 | 17634548:17634562 |
| exon_skip_58641 | chr1 | 17687578:17687747:17691120:17691192:17695158:17695192 | 17691120:17691192 |
| exon_skip_69600 | chr1 | 17637893:17638003:17638562:17638689:17640202:17640302 | 17638562:17638689 |
| 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_170040 | Mayo_CB | 6.684146e-01 | 4.348387e-01 | 2.335759e-01 | 6.528276e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for ARHGEF10L |
| 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 |
| ENST00000361221 | 17607802 | 17607977 | Frame-shift |
| ENST00000361221 | 17619339 | 17619445 | Frame-shift |
| ENST00000361221 | 17648554 | 17648675 | Frame-shift |
| ENST00000361221 | 17664447 | 17664595 | Frame-shift |
| ENST00000361221 | 17613058 | 17613174 | In-frame |
| ENST00000361221 | 17624387 | 17624503 | In-frame |
| ENST00000361221 | 17625956 | 17626048 | In-frame |
| ENST00000361221 | 17634548 | 17634562 | In-frame |
| ENST00000361221 | 17654636 | 17654722 | 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 |
| ENST00000361221 | 17648554 | 17648675 | Frame-shift |
| ENST00000361221 | 17613058 | 17613174 | In-frame |
| ENST00000361221 | 17625956 | 17626048 | In-frame |
| ENST00000361221 | 17634548 | 17634562 | 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 |
| ENST00000361221 | 17607802 | 17607977 | Frame-shift |
| ENST00000361221 | 17619339 | 17619445 | Frame-shift |
| ENST00000361221 | 17637888 | 17638003 | Frame-shift |
| ENST00000361221 | 17638562 | 17638689 | Frame-shift |
| ENST00000361221 | 17648554 | 17648675 | Frame-shift |
| ENST00000361221 | 17664447 | 17664595 | Frame-shift |
| ENST00000361221 | 17613058 | 17613174 | In-frame |
| ENST00000361221 | 17621864 | 17621941 | In-frame |
| ENST00000361221 | 17624387 | 17624503 | In-frame |
| ENST00000361221 | 17625956 | 17626048 | In-frame |
| ENST00000361221 | 17634548 | 17634562 | In-frame |
| ENST00000361221 | 17654636 | 17654722 | In-frame |
| ENST00000361221 | 17695158 | 17695280 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGEF10L |
p-ENSG00000074964_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 |
| ENST00000361221 | 4505 | 1279 | 17613058 | 17613174 | 770 | 885 | 203 | 242 |
| ENST00000361221 | 4505 | 1279 | 17624387 | 17624503 | 1361 | 1476 | 400 | 439 |
| ENST00000361221 | 4505 | 1279 | 17625956 | 17626048 | 1478 | 1569 | 439 | 470 |
| ENST00000361221 | 4505 | 1279 | 17654636 | 17654722 | 2555 | 2640 | 798 | 827 |
| 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 |
| ENST00000361221 | 4505 | 1279 | 17613058 | 17613174 | 770 | 885 | 203 | 242 |
| ENST00000361221 | 4505 | 1279 | 17625956 | 17626048 | 1478 | 1569 | 439 | 470 |
| 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 |
| ENST00000361221 | 4505 | 1279 | 17613058 | 17613174 | 770 | 885 | 203 | 242 |
| ENST00000361221 | 4505 | 1279 | 17621864 | 17621941 | 1103 | 1179 | 314 | 340 |
| ENST00000361221 | 4505 | 1279 | 17624387 | 17624503 | 1361 | 1476 | 400 | 439 |
| ENST00000361221 | 4505 | 1279 | 17625956 | 17626048 | 1478 | 1569 | 439 | 470 |
| ENST00000361221 | 4505 | 1279 | 17654636 | 17654722 | 2555 | 2640 | 798 | 827 |
| ENST00000361221 | 4505 | 1279 | 17695158 | 17695280 | 3345 | 3466 | 1062 | 1102 |
| 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 |
| Q9HCE6 | 203 | 242 | 1 | 221 | Alternative sequence | ID=VSP_034420;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 203 | 242 | 203 | 241 | Alternative sequence | ID=VSP_034421;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16112081;Dbxref=PMID:15489334,PMID:16112081 |
| Q9HCE6 | 203 | 242 | 222 | 278 | Alternative sequence | ID=VSP_034422;Note=In isoform 4. ILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVL->MLPSSSWGKRKLRGRLGWVRSDARGVMWARQEGLHHPHPHAVIRCPSSSSSSVSCS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 203 | 242 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 400 | 439 | 401 | 470 | Alternative sequence | ID=VSP_034423;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 400 | 439 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 400 | 439 | 316 | 503 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9HCE6 | 439 | 470 | 401 | 470 | Alternative sequence | ID=VSP_034423;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 439 | 470 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 439 | 470 | 316 | 503 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9HCE6 | 798 | 827 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| 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 |
| Q9HCE6 | 203 | 242 | 1 | 221 | Alternative sequence | ID=VSP_034420;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 203 | 242 | 203 | 241 | Alternative sequence | ID=VSP_034421;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16112081;Dbxref=PMID:15489334,PMID:16112081 |
| Q9HCE6 | 203 | 242 | 222 | 278 | Alternative sequence | ID=VSP_034422;Note=In isoform 4. ILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVL->MLPSSSWGKRKLRGRLGWVRSDARGVMWARQEGLHHPHPHAVIRCPSSSSSSVSCS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 203 | 242 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 439 | 470 | 401 | 470 | Alternative sequence | ID=VSP_034423;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 439 | 470 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 439 | 470 | 316 | 503 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| 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 |
| Q9HCE6 | 203 | 242 | 1 | 221 | Alternative sequence | ID=VSP_034420;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 203 | 242 | 203 | 241 | Alternative sequence | ID=VSP_034421;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:16112081;Dbxref=PMID:15489334,PMID:16112081 |
| Q9HCE6 | 203 | 242 | 222 | 278 | Alternative sequence | ID=VSP_034422;Note=In isoform 4. ILALRVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVL->MLPSSSWGKRKLRGRLGWVRSDARGVMWARQEGLHHPHPHAVIRCPSSSSSSVSCS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 203 | 242 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 314 | 340 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 314 | 340 | 316 | 503 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9HCE6 | 400 | 439 | 401 | 470 | Alternative sequence | ID=VSP_034423;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 400 | 439 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 400 | 439 | 316 | 503 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9HCE6 | 439 | 470 | 401 | 470 | Alternative sequence | ID=VSP_034423;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 439 | 470 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 439 | 470 | 316 | 503 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q9HCE6 | 798 | 827 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
| Q9HCE6 | 1062 | 1102 | 1062 | 1072 | Alternative sequence | ID=VSP_034425;Note=In isoform 5. GQKHLCVTSLL->DRSLIKCSPRA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 1062 | 1102 | 1073 | 1279 | Alternative sequence | ID=VSP_034426;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCE6 | 1062 | 1102 | 1 | 1279 | Chain | ID=PRO_0000342361;Note=Rho guanine nucleotide exchange factor 10-like protein |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGEF10L |
| 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 ARHGEF10L |
| - 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 ARHGEF10L |
| 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 ARHGEF10L |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| DLPFC | exon_skip_285140 | rs869526 | chr1:17674118 | 5.771184e-04 | 3.620112e-02 |
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Correlation with RNA binding proteins (RBPs) for ARHGEF10L |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | MATR3 | exon_skip_43942 | 4.213048e-01 | 3.199715e-08 |
| CB | PCBP4 | exon_skip_17430 | 5.171357e-01 | 3.841040e-09 |
| CB | TRA2A | exon_skip_17430 | -4.970035e-01 | 1.858586e-08 |
| CB | RBM4 | exon_skip_17430 | -7.806766e-01 | 1.303184e-24 |
| CB | RBM6 | exon_skip_57410 | -4.797706e-01 | 2.948781e-08 |
| CB | PCBP1 | exon_skip_57410 | -5.420743e-01 | 1.613729e-10 |
| CB | SRSF4 | exon_skip_57410 | -4.970818e-01 | 7.692497e-09 |
| CB | RBM6 | exon_skip_245772 | 4.518081e-01 | 2.261283e-09 |
| CB | ZNF638 | exon_skip_198199 | 4.699959e-01 | 7.889821e-08 |
| CB | TRA2A | exon_skip_198199 | 4.330818e-01 | 9.669293e-07 |
| DLPFC | RBM6 | exon_skip_245772 | 5.511370e-01 | 3.613208e-28 |
| DLPFC | SRSF5 | exon_skip_245772 | 4.220120e-01 | 5.504405e-16 |
| HCC | RBM3 | exon_skip_43942 | -4.200735e-01 | 4.706358e-13 |
| HCC | SFPQ | exon_skip_52394 | -5.376004e-01 | 8.969682e-22 |
| IFG | SRSF2 | exon_skip_285140 | -4.409067e-01 | 3.998385e-02 |
| IFG | PABPN1 | exon_skip_285140 | -4.485195e-01 | 3.629124e-02 |
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RelatedDrugs for ARHGEF10L |
| 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 ARHGEF10L |
| 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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