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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 ATP1A1 |
 Gene summary |
| Gene information | Gene symbol | ATP1A1 | Gene ID | 476 |
| Gene name | ATPase Na+/K+ transporting subunit alpha 1 | |
| Synonyms | CMT2DD|HOMGSMR2 | |
| Cytomap | 1p13.1 | |
| Type of gene | protein-coding | |
| Description | sodium/potassium-transporting ATPase subunit alpha-1ATPase, Na+/K+ transporting, alpha 1 polypeptideNa(+)/K(+) ATPase alpha-1 subunitNa+/K+ ATPase 1Na, K-ATPase, alpha-A catalytic polypeptideNa,K-ATPase alpha-1 subunitNa,K-ATPase catalytic subunit a | |
| 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 |
| ATP1A1 | GO:0006883 | cellular sodium ion homeostasis | 10636900|19542013 |
| ATP1A1 | GO:0030007 | cellular potassium ion homeostasis | 10636900|19542013 |
| ATP1A1 | GO:0036376 | sodium ion export across plasma membrane | 10636900|19542013 |
| ATP1A1 | GO:0071383 | cellular response to steroid hormone stimulus | 11546672 |
| ATP1A1 | GO:0086009 | membrane repolarization | 19542013 |
| ATP1A1 | GO:1903416 | response to glycoside | 11546672 |
| ATP1A1 | GO:1990573 | potassium ion import across plasma membrane | 10636900|19542013 |
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Gene structures and expression levels for ATP1A1 |
| 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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ENSG00000163399
| 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 |
| PCC | DOWN | ENST00000418797.5 | ATP1A1-204:protein_coding:ATP1A1 | 4.820259e+00 | -8.681590e-01 | 9.495265e-05 | 5.894397e-03 |
| CB | DOWN | ENST00000440951.1 | ATP1A1-205:protein_coding:ATP1A1 | 3.338867e+02 | -1.516669e+00 | 9.051710e-03 | 3.205465e-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 ATP1A1 |
| 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_146775 | chr1 | 116393531:116393723:116395110:116395285:116396598:116396734 | 116395110:116395285 |
| exon_skip_260563 | chr1 | 116401554:116401655:116403884:116403975:116404416:116404772 | 116403884:116403975 |
| exon_skip_292237 | chr1 | 116387303:116387491:116388131:116388244:116388638:116388663 | 116388131:116388244 |
| 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 ATP1A1 |
| 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 |
| ENST00000295598 | 116395110 | 116395285 | Frame-shift |
| ENST00000295598 | 116403884 | 116403975 | Frame-shift |
| 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 |
| 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 |
| ENST00000295598 | 116395110 | 116395285 | Frame-shift |
| ENST00000295598 | 116403884 | 116403975 | Frame-shift |
| ENST00000295598 | 116388131 | 116388244 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP1A1 |
p-ENSG00000163399_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 |
| 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 |
| 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 |
| ENST00000295598 | 3671 | 1023 | 116388131 | 116388244 | 641 | 753 | 129 | 167 |
| 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 |
| 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 |
| 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 |
| P05023 | 129 | 167 | 6 | 1023 | Chain | ID=PRO_0000002484;Note=Sodium/potassium-transporting ATPase subunit alpha-1 |
| P05023 | 129 | 167 | 109 | 131 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05023 | 129 | 167 | 153 | 288 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05023 | 129 | 167 | 132 | 152 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP1A1 |
| 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 ATP1A1 |
| - 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 ATP1A1 |
| 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 ATP1A1 |
| 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 ATP1A1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATP1A1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P05023 | approved | DB00390 | Digoxin | small molecule | P05023 |
| P05023 | approved | DB00511 | Acetyldigitoxin | small molecule | P05023 |
| P05023 | approved|investigational | DB00774 | Hydroflumethiazide | small molecule | P05023 |
| P05023 | approved|investigational | DB00903 | Etacrynic acid | small molecule | P05023 |
| P05023 | approved|vet_approved | DB01021 | Trichlormethiazide | small molecule | P05023 |
| P05023 | approved | DB01078 | Deslanoside | small molecule | P05023 |
| P05023 | approved | DB01092 | Ouabain | small molecule | P05023 |
| P05023 | approved | DB01119 | Diazoxide | small molecule | P05023 |
| P05023 | approved | DB01158 | Bretylium | small molecule | P05023 |
| P05023 | approved|investigational | DB01188 | Ciclopirox | small molecule | P05023 |
| P05023 | approved|withdrawn | DB01244 | Bepridil | small molecule | P05023 |
| P05023 | approved|investigational | DB01396 | Digitoxin | small molecule | P05023 |
| P05023 | approved | DB01430 | Almitrine | small molecule | P05023 |
| P05023 | approved|investigational | DB14498 | Potassium acetate | small molecule | P05023 |
| P05023 | approved|investigational | DB14517 | Aluminium phosphate | small molecule | P05023 |
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RelatedDiseases for ATP1A1 |
| 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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