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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 ARID1A |
 Gene summary |
| Gene information | Gene symbol | ARID1A | Gene ID | 8289 |
| Gene name | AT-rich interaction domain 1A | |
| Synonyms | B120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1 | |
| Cytomap | 1p36.11 | |
| Type of gene | protein-coding | |
| Description | AT-rich interactive domain-containing protein 1AARID domain-containing protein 1AAT rich interactive domain 1A (SWI-like)BRG1-associated factor 250aOSA1 nuclear proteinSWI-like proteinSWI/SNF complex protein p270SWI/SNF-related, matrix-associated, | |
| Modification date | 20200329 | |
| 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 |
| ARID1A | GO:0006337 | nucleosome disassembly | 8895581 |
| ARID1A | GO:0006338 | chromatin remodeling | 11726552 |
| ARID1A | GO:0030520 | intracellular estrogen receptor signaling pathway | 12200431 |
| ARID1A | GO:0030521 | androgen receptor signaling pathway | 12200431 |
| ARID1A | GO:0042921 | glucocorticoid receptor signaling pathway | 12200431 |
| ARID1A | GO:0045893 | positive regulation of transcription, DNA-templated | 12200431 |
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Gene structures and expression levels for ARID1A |
| 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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ENSG00000117713
| 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 |
| STG | UP | ENST00000636219.1 | ARID1A-212:protein_coding:ARID1A | 2.763407e+02 | 1.291396e+00 | 8.076849e-07 | 4.474192e-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 ARID1A |
| 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_216429 | chr1 | 26761384:26761473:26762152:26762319:26762973:26763175 | 26762152:26762319 |
| exon_skip_229598 | chr1 | 26762152:26762319:26762973:26763285:26766221:26766366 | 26762973:26763285 |
| exon_skip_258108 | chr1 | 26773802:26773898:26774329:26775220:26775577:26775707 | 26774329:26775220 |
| exon_skip_273306 | chr1 | 26773802:26773898:26774980:26775220:26775577:26775707 | 26774980:26775220 |
| exon_skip_40160 | chr1 | 26696404:26697540:26729651:26729863:26731152:26731318 | 26729651:26729863 |
| exon_skip_97719 | chr1 | 26773802:26773898:26774116:26774203:26774329:26774901 | 26774116:26774203 |
| 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 ARID1A |
| 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 |
| ENST00000324856 | 26729651 | 26729863 | In-frame |
| ENST00000324856 | 26762152 | 26762319 | 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 |
| ENST00000324856 | 26774329 | 26775220 | Frame-shift |
| ENST00000324856 | 26762152 | 26762319 | 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 |
| ENST00000324856 | 26762973 | 26763285 | Frame-shift |
| ENST00000324856 | 26729651 | 26729863 | In-frame |
| ENST00000324856 | 26762152 | 26762319 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARID1A |
p-ENSG00000117713_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 |
| ENST00000324856 | 8600 | 2285 | 26729651 | 26729863 | 1510 | 1721 | 379 | 450 |
| ENST00000324856 | 8600 | 2285 | 26762152 | 26762319 | 2624 | 2790 | 751 | 806 |
| 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 |
| ENST00000324856 | 8600 | 2285 | 26762152 | 26762319 | 2624 | 2790 | 751 | 806 |
| 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 |
| ENST00000324856 | 8600 | 2285 | 26729651 | 26729863 | 1510 | 1721 | 379 | 450 |
| ENST00000324856 | 8600 | 2285 | 26762152 | 26762319 | 2624 | 2790 | 751 | 806 |
| 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 |
| O14497 | 379 | 450 | 1 | 383 | Alternative sequence | ID=VSP_037157;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9434167;Dbxref=PMID:9434167 |
| O14497 | 379 | 450 | 2 | 2285 | Chain | ID=PRO_0000200575;Note=AT-rich interactive domain-containing protein 1A |
| O14497 | 379 | 450 | 382 | 382 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O14497 | 379 | 450 | 429 | 429 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| O14497 | 379 | 450 | 410 | 410 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 410 | 410 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 410 | 410 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 434 | 434 | Sequence conflict | Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 434 | 434 | Sequence conflict | Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 434 | 434 | Sequence conflict | Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 2 | 2285 | Chain | ID=PRO_0000200575;Note=AT-rich interactive domain-containing protein 1A |
| O14497 | 751 | 806 | 764 | 764 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| O14497 | 751 | 806 | 772 | 772 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;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 |
| O14497 | 751 | 806 | 2 | 2285 | Chain | ID=PRO_0000200575;Note=AT-rich interactive domain-containing protein 1A |
| O14497 | 751 | 806 | 764 | 764 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| O14497 | 751 | 806 | 772 | 772 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;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 |
| O14497 | 379 | 450 | 1 | 383 | Alternative sequence | ID=VSP_037157;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9434167;Dbxref=PMID:9434167 |
| O14497 | 379 | 450 | 2 | 2285 | Chain | ID=PRO_0000200575;Note=AT-rich interactive domain-containing protein 1A |
| O14497 | 379 | 450 | 382 | 382 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O14497 | 379 | 450 | 429 | 429 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| O14497 | 379 | 450 | 410 | 410 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 410 | 410 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 410 | 410 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 434 | 434 | Sequence conflict | Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 434 | 434 | Sequence conflict | Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 379 | 450 | 434 | 434 | Sequence conflict | Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 2 | 2285 | Chain | ID=PRO_0000200575;Note=AT-rich interactive domain-containing protein 1A |
| O14497 | 751 | 806 | 764 | 764 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| O14497 | 751 | 806 | 772 | 772 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 757 | 757 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14497 | 751 | 806 | 776 | 776 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARID1A |
| 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 ARID1A |
| - 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 ARID1A |
| 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 ARID1A |
| 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 ARID1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ARID1A |
| 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 ARID1A |
| 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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