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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 ATRX |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ATRX | GO:0006334 | nucleosome assembly | 20651253 |
| ATRX | GO:0006338 | chromatin remodeling | 20651253 |
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Gene structures and expression levels for ATRX |
| 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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ENSG00000085224
| 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 | UP | ENST00000622960.1 | ATRX-208:protein_coding:ATRX | 1.616837e+01 | 1.114192e+00 | 2.743694e-13 | 5.113577e-11 |
| CB | UP | ENST00000624166.3 | ATRX-214:protein_coding:ATRX | 4.381187e+01 | 1.506866e+00 | 2.697324e-10 | 1.460692e-08 |
| CB | UP | ENST00000624668.3 | ATRX-217:protein_coding:ATRX | 4.372394e+00 | 1.333809e+00 | 3.577600e-09 | 1.269132e-07 |
| CB | UP | ENST00000623706.3 | ATRX-212:retained_intron:ATRX | 2.400519e+02 | 8.989080e-01 | 1.565051e-08 | 4.408316e-07 |
| CB | UP | ENST00000624403.1 | ATRX-216:retained_intron:ATRX | 3.201497e+00 | 1.024497e+00 | 5.470613e-04 | 3.109875e-03 |
| TC | DOWN | ENST00000400866.4 | ATRX-203:protein_coding:ATRX | 3.331678e+00 | -1.018179e+00 | 3.651874e-06 | 1.156659e-04 |
| TC | UP | ENST00000460639.2 | ATRX-204:retained_intron:ATRX | 1.254593e+00 | 8.746178e-01 | 4.258417e-03 | 2.967430e-02 |
| 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 ATRX |
| 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_134275 | chrX | 77558809:77558846:77574250:77574358:77589834:77589872 | 77574250:77574358 |
| exon_skip_157647 | chrX | 77698574:77698629:77717131:77717243:77785845:77786233 | 77717131:77717243 |
| exon_skip_160851 | chrX | 77599411:77599580:77599732:77599820:77600434:77600540 | 77599732:77599820 |
| exon_skip_171429 | chrX | 77698574:77698629:77699510:77699547:77717131:77717243 | 77699510:77699547 |
| exon_skip_220392 | chrX | 77688902:77688924:77691225:77691291:77693824:77693833 | 77691225:77691291 |
| exon_skip_252973 | chrX | 77688818:77688927:77693824:77693937:77696577:77696704 | 77693824:77693937 |
| exon_skip_254994 | chrX | 77698574:77698629:77717131:77717243:77785982:77786204 | 77717131:77717243 |
| exon_skip_282706 | chrX | 77593696:77593849:77595712:77595785:77599411:77599580 | 77595712:77595785 |
| exon_skip_294644 | chrX | 77593696:77593849:77595712:77595785:77599411:77599438 | 77595712:77595785 |
| exon_skip_38704 | chrX | 77520788:77520916:77521403:77521498:77522263:77522388 | 77521403:77521498 |
| exon_skip_54152 | chrX | 77656560:77656653:77663382:77663558:77664645:77664778 | 77663382:77663558 |
| exon_skip_73051 | chrX | 77664645:77664778:77676226:77676298:77681520:77682141 | 77676226:77676298 |
| exon_skip_78765 | chrX | 77688902:77688924:77693824:77693937:77696577:77696704 | 77693824:77693937 |
| exon_skip_84102 | chrX | 77616613:77616730:77618806:77618981:77620395:77620532 | 77618806:77618981 |
| 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 ATRX |
| 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 |
| ENST00000373344 | 77599732 | 77599820 | Frame-shift |
| ENST00000395603 | 77599732 | 77599820 | Frame-shift |
| ENST00000373344 | 77618806 | 77618981 | Frame-shift |
| ENST00000395603 | 77618806 | 77618981 | Frame-shift |
| ENST00000373344 | 77676226 | 77676298 | Frame-shift |
| ENST00000395603 | 77676226 | 77676298 | Frame-shift |
| ENST00000395603 | 77717131 | 77717243 | Frame-shift |
| ENST00000373344 | 77663382 | 77663558 | In-frame |
| ENST00000395603 | 77663382 | 77663558 | In-frame |
| ENST00000373344 | 77693824 | 77693937 | 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 |
| ENST00000373344 | 77676226 | 77676298 | Frame-shift |
| ENST00000395603 | 77676226 | 77676298 | Frame-shift |
| ENST00000395603 | 77717131 | 77717243 | Frame-shift |
| ENST00000373344 | 77693824 | 77693937 | 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 |
| ENST00000373344 | 77574250 | 77574358 | Frame-shift |
| ENST00000395603 | 77574250 | 77574358 | Frame-shift |
| ENST00000373344 | 77599732 | 77599820 | Frame-shift |
| ENST00000395603 | 77599732 | 77599820 | Frame-shift |
| ENST00000373344 | 77618806 | 77618981 | Frame-shift |
| ENST00000395603 | 77618806 | 77618981 | Frame-shift |
| ENST00000373344 | 77676226 | 77676298 | Frame-shift |
| ENST00000395603 | 77676226 | 77676298 | Frame-shift |
| ENST00000395603 | 77717131 | 77717243 | Frame-shift |
| ENST00000373344 | 77521403 | 77521498 | In-frame |
| ENST00000395603 | 77521403 | 77521498 | In-frame |
| ENST00000373344 | 77663382 | 77663558 | In-frame |
| ENST00000395603 | 77663382 | 77663558 | In-frame |
| ENST00000373344 | 77693824 | 77693937 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATRX |
p-ENSG00000085224_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 |
| ENST00000373344 | 11237 | 2492 | 77693824 | 77693937 | 639 | 751 | 123 | 161 |
| ENST00000373344 | 11237 | 2492 | 77663382 | 77663558 | 4212 | 4387 | 1314 | 1373 |
| 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 |
| ENST00000373344 | 11237 | 2492 | 77693824 | 77693937 | 639 | 751 | 123 | 161 |
| 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 |
| ENST00000373344 | 11237 | 2492 | 77693824 | 77693937 | 639 | 751 | 123 | 161 |
| ENST00000373344 | 11237 | 2492 | 77663382 | 77663558 | 4212 | 4387 | 1314 | 1373 |
| ENST00000373344 | 11237 | 2492 | 77521403 | 77521498 | 7244 | 7338 | 2325 | 2356 |
| 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 |
| P46100 | 123 | 161 | 1 | 204 | Alternative sequence | ID=VSP_000575;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8968741;Dbxref=PMID:8968741 |
| P46100 | 123 | 161 | 124 | 162 | Alternative sequence | ID=VSP_015499;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| P46100 | 123 | 161 | 124 | 161 | Alternative sequence | ID=VSP_000576;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8968741;Dbxref=PMID:8968741 |
| P46100 | 123 | 161 | 1 | 2492 | Chain | ID=PRO_0000074301;Note=Transcriptional regulator ATRX |
| P46100 | 123 | 161 | 138 | 138 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P46100 | 123 | 161 | 142 | 142 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P46100 | 123 | 161 | 159 | 296 | Domain | Note=ADD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00865 |
| P46100 | 1314 | 1373 | 1 | 2492 | Chain | ID=PRO_0000074301;Note=Transcriptional regulator ATRX |
| P46100 | 1314 | 1373 | 1322 | 1322 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46100 | 1314 | 1373 | 1324 | 1324 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46100 | 1314 | 1373 | 1326 | 1326 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46100 | 1314 | 1373 | 1348 | 1348 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID |
| P46100 | 1314 | 1373 | 1352 | 1352 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| P46100 | 1314 | 1373 | 1189 | 1326 | Region | Note=Interaction with DAXX |
| 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 |
| P46100 | 123 | 161 | 1 | 204 | Alternative sequence | ID=VSP_000575;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8968741;Dbxref=PMID:8968741 |
| P46100 | 123 | 161 | 124 | 162 | Alternative sequence | ID=VSP_015499;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| P46100 | 123 | 161 | 124 | 161 | Alternative sequence | ID=VSP_000576;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8968741;Dbxref=PMID:8968741 |
| P46100 | 123 | 161 | 1 | 2492 | Chain | ID=PRO_0000074301;Note=Transcriptional regulator ATRX |
| P46100 | 123 | 161 | 138 | 138 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P46100 | 123 | 161 | 142 | 142 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P46100 | 123 | 161 | 159 | 296 | Domain | Note=ADD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00865 |
| 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 |
| P46100 | 123 | 161 | 1 | 204 | Alternative sequence | ID=VSP_000575;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8968741;Dbxref=PMID:8968741 |
| P46100 | 123 | 161 | 124 | 162 | Alternative sequence | ID=VSP_015499;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| P46100 | 123 | 161 | 124 | 161 | Alternative sequence | ID=VSP_000576;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8968741;Dbxref=PMID:8968741 |
| P46100 | 123 | 161 | 1 | 2492 | Chain | ID=PRO_0000074301;Note=Transcriptional regulator ATRX |
| P46100 | 123 | 161 | 138 | 138 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P46100 | 123 | 161 | 142 | 142 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P46100 | 123 | 161 | 159 | 296 | Domain | Note=ADD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00865 |
| P46100 | 1314 | 1373 | 1 | 2492 | Chain | ID=PRO_0000074301;Note=Transcriptional regulator ATRX |
| P46100 | 1314 | 1373 | 1322 | 1322 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46100 | 1314 | 1373 | 1324 | 1324 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46100 | 1314 | 1373 | 1326 | 1326 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46100 | 1314 | 1373 | 1348 | 1348 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID |
| P46100 | 1314 | 1373 | 1352 | 1352 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| P46100 | 1314 | 1373 | 1189 | 1326 | Region | Note=Interaction with DAXX |
| P46100 | 2325 | 2356 | 1419 | 2492 | Alternative sequence | ID=VSP_015501;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| P46100 | 2325 | 2356 | 1 | 2492 | Chain | ID=PRO_0000074301;Note=Transcriptional regulator ATRX |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATRX |
| 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 ATRX |
| - 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 ATRX |
| 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 ATRX |
| 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 ATRX |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PABPN1 | exon_skip_252973 | -4.921736e-01 | 2.365073e-09 |
| CB | CNOT4 | exon_skip_252973 | -4.269269e-01 | 3.673827e-07 |
| CB | TRA2A | exon_skip_252973 | -5.288942e-01 | 8.370647e-11 |
| IFG | NUP42 | exon_skip_78765 | 4.840987e-01 | 1.050840e-02 |
| IFG | RBM46 | exon_skip_252973 | 4.094105e-01 | 3.050520e-02 |
| IFG | IGF2BP2 | exon_skip_254994 | 5.072432e-01 | 5.868333e-03 |
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RelatedDrugs for ATRX |
| 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 ATRX |
| 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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