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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 ATP1B1 |
 Gene summary |
| Gene information | Gene symbol | ATP1B1 | Gene ID | 481 |
| Gene name | ATPase Na+/K+ transporting subunit beta 1 | |
| Synonyms | ATP1B | |
| Cytomap | 1q24.2 | |
| Type of gene | protein-coding | |
| Description | sodium/potassium-transporting ATPase subunit beta-1ATPase, Na+/K+ transporting, beta 1 polypeptideBeta 1-subunit of Na(+),K(+)-ATPaseNa, K-ATPase beta-1 polypeptideadenosinetriphosphatasesodium pump subunit beta-1sodium-potassium ATPase subunit beta | |
| 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 |
| ATP1B1 | GO:0006883 | cellular sodium ion homeostasis | 10636900|19542013 |
| ATP1B1 | GO:0030007 | cellular potassium ion homeostasis | 10636900|19542013 |
| ATP1B1 | GO:0032781 | positive regulation of ATPase activity | 10636900 |
| ATP1B1 | GO:0036376 | sodium ion export across plasma membrane | 10636900|19542013 |
| ATP1B1 | GO:0046034 | ATP metabolic process | 23954377 |
| ATP1B1 | GO:0050821 | protein stabilization | 10636900 |
| ATP1B1 | GO:0072659 | protein localization to plasma membrane | 18522992 |
| ATP1B1 | GO:0086009 | membrane repolarization | 19542013 |
| ATP1B1 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 10636900 |
| ATP1B1 | GO:1903278 | positive regulation of sodium ion export across plasma membrane | 10636900 |
| ATP1B1 | GO:1903288 | positive regulation of potassium ion import | 10636900 |
| ATP1B1 | GO:1990573 | potassium ion import across plasma membrane | 10636900|19542013 |
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Gene structures and expression levels for ATP1B1 |
| 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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ENSG00000143153
| 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 |
| 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 ATP1B1 |
| 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_16654 | chr1 | 169106784:169106926:169111370:169111498:169124884:169125039 | 169111370:169111498 |
| exon_skip_169662 | chr1 | 169106690:169106926:169111370:169111498:169124884:169124908 | 169111370:169111498 |
| exon_skip_48685 | chr1 | 169106690:169106926:169111370:169111498:169124884:169125039 | 169111370:169111498 |
| exon_skip_77161 | chr1 | 169111370:169111498:169124884:169125039:169127224:169127399 | 169124884:169125039 |
| 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 ATP1B1 |
| 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 |
| ENST00000367815 | 169111370 | 169111498 | In-frame |
| ENST00000367816 | 169111370 | 169111498 | 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 |
| ENST00000367815 | 169111370 | 169111498 | In-frame |
| ENST00000367816 | 169111370 | 169111498 | 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 |
| ENST00000367815 | 169111370 | 169111498 | In-frame |
| ENST00000367816 | 169111370 | 169111498 | In-frame |
| ENST00000367815 | 169124884 | 169125039 | In-frame |
| ENST00000367816 | 169124884 | 169125039 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP1B1 |
p-ENSG00000143153_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 |
| ENST00000367815 | 1900 | 303 | 169111370 | 169111498 | 606 | 733 | 33 | 75 |
| ENST00000367816 | 2625 | 303 | 169111370 | 169111498 | 628 | 755 | 33 | 75 |
| 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 |
| ENST00000367815 | 1900 | 303 | 169111370 | 169111498 | 606 | 733 | 33 | 75 |
| ENST00000367816 | 2625 | 303 | 169111370 | 169111498 | 628 | 755 | 33 | 75 |
| 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 |
| ENST00000367815 | 1900 | 303 | 169111370 | 169111498 | 606 | 733 | 33 | 75 |
| ENST00000367816 | 2625 | 303 | 169111370 | 169111498 | 628 | 755 | 33 | 75 |
| ENST00000367815 | 1900 | 303 | 169124884 | 169125039 | 735 | 889 | 76 | 127 |
| ENST00000367816 | 2625 | 303 | 169124884 | 169125039 | 757 | 911 | 76 | 127 |
| 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 |
| P05026 | 33 | 75 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 33 | 75 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 33 | 75 | 1 | 34 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 1 | 34 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 35 | 62 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 35 | 62 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P05026 | 33 | 75 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 33 | 75 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 33 | 75 | 1 | 34 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 1 | 34 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 35 | 62 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 35 | 62 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P05026 | 33 | 75 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 33 | 75 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 33 | 75 | 1 | 34 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 1 | 34 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 35 | 62 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 33 | 75 | 35 | 62 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 76 | 127 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 76 | 127 | 1 | 303 | Chain | ID=PRO_0000219097;Note=Sodium/potassium-transporting ATPase subunit beta-1 |
| P05026 | 76 | 127 | 126 | 149 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P05026 | 76 | 127 | 126 | 149 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P05026 | 76 | 127 | 101 | 101 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P14094 |
| P05026 | 76 | 127 | 101 | 101 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P14094 |
| P05026 | 76 | 127 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P05026 | 76 | 127 | 63 | 303 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP1B1 |
| 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 ATP1B1 |
| - 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 ATP1B1 |
| 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 ATP1B1 |
| 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 ATP1B1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATP1B1 |
| 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 ATP1B1 |
| 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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