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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 ATP2B1 |
 Gene summary |
| Gene information | Gene symbol | ATP2B1 | Gene ID | 490 |
| Gene name | ATPase plasma membrane Ca2+ transporting 1 | |
| Synonyms | PMCA1|PMCA1kb | |
| Cytomap | 12q21.33 | |
| Type of gene | protein-coding | |
| Description | plasma membrane calcium-transporting ATPase 1ATPase, Ca++ transporting, plasma membrane 1plasma membrane calcium pump | |
| Modification date | 20200322 | |
| UniProtAcc | A0A024RBC7, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ATP2B1 | GO:0051480 | regulation of cytosolic calcium ion concentration | 18029012 |
| ATP2B1 | GO:1990034 | calcium ion export across plasma membrane | 18029012 |
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Gene structures and expression levels for ATP2B1 |
| 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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ENSG00000070961
| 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 |
| FL | DOWN | ENST00000635033.1 | ATP2B1-211:protein_coding:ATP2B1 | 1.120242e+02 | -8.888300e-01 | 3.645917e-05 | 9.700073e-03 |
| PG | DOWN | ENST00000551009.5 | ATP2B1-208:retained_intron:ATP2B1 | 3.460934e+01 | -8.806819e-01 | 9.234601e-09 | 2.398582e-06 |
| PG | DOWN | ENST00000549585.1 | ATP2B1-205:retained_intron:ATP2B1 | 2.924224e+01 | -9.163851e-01 | 3.364283e-08 | 6.385711e-06 |
| CB | UP | ENST00000550716.1 | ATP2B1-207:protein_coding:ATP2B1 | 5.525457e+00 | 1.111991e+00 | 2.524053e-08 | 6.617146e-07 |
| CB | DOWN | ENST00000261173.6 | ATP2B1-201:protein_coding:ATP2B1 | 1.814949e+03 | -1.056034e+00 | 1.289995e-05 | 1.306218e-04 |
| CB | UP | ENST00000393164.6 | ATP2B1-203:protein_coding:ATP2B1 | 4.118766e+00 | 1.339186e+00 | 1.659640e-03 | 7.887558e-03 |
| 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 ATP2B1 |
| 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_119885 | chr12 | 89611234:89611372:89616802:89617039:89619999:89620240 | 89616802:89617039 |
| exon_skip_128439 | chr12 | 89591103:89591295:89598590:89598743:89599117:89599299 | 89598590:89598743 |
| exon_skip_137855 | chr12 | 89627678:89627716:89630505:89630645:89634778:89634903 | 89630505:89630645 |
| exon_skip_155289 | chr12 | 89591260:89591295:89598590:89598743:89599117:89599299 | 89598590:89598743 |
| exon_skip_158713 | chr12 | 89630505:89630645:89634778:89634903:89634997:89635251 | 89634778:89634903 |
| exon_skip_16955 | chr12 | 89599117:89599299:89601326:89601433:89603043:89603059 | 89601326:89601433 |
| exon_skip_17009 | chr12 | 89603043:89603254:89603712:89603925:89604155:89604346 | 89603712:89603925 |
| exon_skip_175961 | chr12 | 89621549:89621791:89624183:89624397:89626454:89626615 | 89624183:89624397 |
| exon_skip_211517 | chr12 | 89627678:89627716:89630505:89630645:89634778:89634888 | 89630505:89630645 |
| exon_skip_221062 | chr12 | 89626454:89626615:89627678:89627716:89630505:89630645 | 89627678:89627716 |
| exon_skip_227633 | chr12 | 89591260:89591295:89598657:89598743:89599117:89599299 | 89598657:89598743 |
| exon_skip_240021 | chr12 | 89599140:89599299:89601326:89601433:89603043:89603152 | 89601326:89601433 |
| exon_skip_270395 | chr12 | 89619999:89620240:89621549:89621791:89624183:89624373 | 89621549:89621791 |
| exon_skip_289047 | chr12 | 89634997:89635251:89642158:89642355:89655679:89656019 | 89642158:89642355 |
| exon_skip_41814 | chr12 | 89619999:89620240:89621549:89621791:89624183:89624397 | 89621549:89621791 |
| exon_skip_46836 | chr12 | 89599117:89599299:89601326:89601433:89603043:89603152 | 89601326:89601433 |
| exon_skip_76264 | chr12 | 89591103:89591295:89598657:89598743:89599117:89599299 | 89598657:89598743 |
| exon_skip_84116 | chr12 | 89634778:89634903:89634997:89635251:89642158:89642355 | 89634997:89635251 |
| exon_skip_89903 | chr12 | 89611193:89611372:89616802:89617039:89619999:89620240 | 89616802:89617039 |
| 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_128439 | MSBB_PG | 7.511189e-01 | 8.665455e-01 | -1.154266e-01 | 2.117123e-04 |
| exon_skip_227233 | MSBB_PG | 5.044000e-01 | 6.900000e-01 | -1.856000e-01 | 8.385954e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for ATP2B1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ATP2B1 |
p-ENSG00000070961_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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP2B1 |
| 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 ATP2B1 |
| - 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 ATP2B1 |
| 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 ATP2B1 |
| 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 ATP2B1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RALYL | exon_skip_128439 | 4.099003e-01 | 9.759975e-08 |
| FL | SRSF2 | exon_skip_128439 | 4.463304e-01 | 4.912264e-11 |
| FL | ILF2 | exon_skip_128439 | 5.056541e-01 | 3.487689e-14 |
| FL | RALYL | exon_skip_128439 | 5.818850e-01 | 3.042395e-19 |
| FL | HNRNPH2 | exon_skip_128439 | 5.539276e-01 | 3.087400e-17 |
| FL | ESRP1 | exon_skip_128439 | 4.574574e-01 | 1.399402e-11 |
| FL | NOVA1 | exon_skip_128439 | 4.354976e-01 | 1.597986e-10 |
| FL | ILF2 | exon_skip_227233 | 4.686407e-01 | 1.040377e-11 |
| FL | RALYL | exon_skip_227233 | 5.084413e-01 | 8.082496e-14 |
| FL | HNRNPH2 | exon_skip_227233 | 5.654336e-01 | 2.316776e-17 |
| FL | ESRP1 | exon_skip_227233 | 4.644078e-01 | 1.682479e-11 |
| FL | RALYL | exon_skip_76264 | 4.772657e-01 | 7.966767e-11 |
| FL | HNRNPH2 | exon_skip_76264 | 4.395464e-01 | 3.128173e-09 |
| HCC | RBM25 | exon_skip_128439 | -4.776890e-01 | 6.540571e-17 |
| HCC | SFPQ | exon_skip_128439 | -6.253076e-01 | 6.452470e-31 |
| HCC | RBM6 | exon_skip_128439 | -6.469776e-01 | 1.199283e-33 |
| HCC | TRNAU1AP | exon_skip_128439 | -5.669709e-01 | 1.556033e-24 |
| HCC | PCBP1 | exon_skip_128439 | -4.386900e-01 | 3.200263e-14 |
| HCC | PCBP4 | exon_skip_128439 | -5.264216e-01 | 8.598333e-21 |
| HCC | PCBP2 | exon_skip_128439 | -4.273046e-01 | 1.689234e-13 |
| HCC | HNRNPA2B1 | exon_skip_128439 | -4.944072e-01 | 3.575968e-18 |
| HCC | PABPC1 | exon_skip_128439 | -4.632793e-01 | 7.072171e-16 |
| HCC | SRSF5 | exon_skip_128439 | -5.047513e-01 | 5.459011e-19 |
| HCC | HNRNPF | exon_skip_128439 | -6.859553e-01 | 3.679946e-39 |
| HCC | RBM25 | exon_skip_227233 | -4.632413e-01 | 7.115775e-16 |
| HCC | SFPQ | exon_skip_227233 | -6.253938e-01 | 6.299061e-31 |
| HCC | RBM6 | exon_skip_227233 | -6.373229e-01 | 2.101551e-32 |
| HCC | TRNAU1AP | exon_skip_227233 | -5.388210e-01 | 6.972281e-22 |
| HCC | PCBP1 | exon_skip_227233 | -4.319724e-01 | 8.604965e-14 |
| HCC | PCBP4 | exon_skip_227233 | -5.142738e-01 | 9.136566e-20 |
| HCC | PCBP2 | exon_skip_227233 | -4.272973e-01 | 1.691012e-13 |
| HCC | HNRNPA2B1 | exon_skip_227233 | -4.907630e-01 | 6.830419e-18 |
| HCC | PABPC1 | exon_skip_227233 | -4.643547e-01 | 5.943824e-16 |
| HCC | SRSF5 | exon_skip_227233 | -4.871197e-01 | 1.294481e-17 |
| HCC | HNRNPF | exon_skip_227233 | -6.781321e-01 | 5.504320e-38 |
| HCC | RBM25 | exon_skip_282571 | -4.386695e-01 | 3.210065e-14 |
| HCC | SFPQ | exon_skip_282571 | -4.661152e-01 | 4.465788e-16 |
| HCC | RBM6 | exon_skip_282571 | -5.587772e-01 | 9.768605e-24 |
| HCC | TRNAU1AP | exon_skip_282571 | -4.936890e-01 | 4.064872e-18 |
| HCC | PCBP4 | exon_skip_282571 | -4.705896e-01 | 2.143401e-16 |
| HCC | PCBP2 | exon_skip_282571 | -4.050414e-01 | 3.667001e-12 |
| HCC | PABPC1 | exon_skip_282571 | -4.079453e-01 | 2.486128e-12 |
| HCC | SRSF5 | exon_skip_282571 | -4.906018e-01 | 7.027490e-18 |
| HCC | RBM25 | exon_skip_76264 | -4.950492e-01 | 3.188146e-18 |
| HCC | SFPQ | exon_skip_76264 | -6.018439e-01 | 3.423996e-28 |
| HCC | RBM6 | exon_skip_76264 | -6.563940e-01 | 6.635933e-35 |
| HCC | PCBP4 | exon_skip_76264 | -5.492818e-01 | 7.713264e-23 |
| HCC | PCBP2 | exon_skip_76264 | -4.475109e-01 | 8.443926e-15 |
| HCC | SRSF5 | exon_skip_76264 | -5.101406e-01 | 1.998610e-19 |
| IFG | RALYL | exon_skip_128439 | 6.971711e-01 | 3.747760e-05 |
| IFG | NOVA1 | exon_skip_128439 | 4.596876e-01 | 1.385259e-02 |
| IFG | RALYL | exon_skip_227233 | 6.376286e-01 | 3.468138e-04 |
| IFG | HNRNPH2 | exon_skip_227233 | 4.392485e-01 | 2.188716e-02 |
| PCC | SFPQ | exon_skip_128439 | -4.491582e-01 | 9.014233e-12 |
| PCC | RBM6 | exon_skip_128439 | -4.941510e-01 | 2.879711e-14 |
| PCC | TRNAU1AP | exon_skip_128439 | -4.474607e-01 | 1.101859e-11 |
| PCC | PCBP4 | exon_skip_128439 | -5.458022e-01 | 1.270329e-17 |
| PCC | PABPC1 | exon_skip_128439 | -5.125546e-01 | 2.130460e-15 |
| PCC | HNRNPF | exon_skip_128439 | -5.859848e-01 | 1.158215e-20 |
| PCC | SFPQ | exon_skip_227233 | -4.620956e-01 | 2.125684e-12 |
| PCC | RBM6 | exon_skip_227233 | -5.066334e-01 | 5.823676e-15 |
| PCC | TRNAU1AP | exon_skip_227233 | -4.539605e-01 | 5.711508e-12 |
| PCC | PCBP4 | exon_skip_227233 | -5.283884e-01 | 2.352722e-16 |
| PCC | PABPC1 | exon_skip_227233 | -5.306675e-01 | 1.658514e-16 |
| PCC | HNRNPF | exon_skip_227233 | -5.753008e-01 | 1.002964e-19 |
| PCC | SFPQ | exon_skip_76264 | -4.073118e-01 | 9.322501e-10 |
| PCC | RBM6 | exon_skip_76264 | -4.647057e-01 | 1.359901e-12 |
| PCC | PCBP4 | exon_skip_76264 | -5.058521e-01 | 5.600444e-15 |
| PG | PCBP1 | exon_skip_128439 | 5.238837e-01 | 2.374443e-15 |
| PG | ILF2 | exon_skip_128439 | 4.396370e-01 | 9.167355e-11 |
| PG | RALYL | exon_skip_128439 | 6.246413e-01 | 8.058435e-23 |
| PG | HNRNPH2 | exon_skip_128439 | 5.379617e-01 | 3.008689e-16 |
| PG | PCBP1 | exon_skip_227233 | 5.409861e-01 | 6.406628e-15 |
| PG | ILF2 | exon_skip_227233 | 4.476714e-01 | 3.721361e-10 |
| PG | RALYL | exon_skip_227233 | 6.323371e-01 | 2.889864e-21 |
| PG | HNRNPH2 | exon_skip_227233 | 5.552048e-01 | 8.794225e-16 |
| PG | RALYL | exon_skip_76264 | 5.819910e-01 | 8.649547e-15 |
| PG | HNRNPH2 | exon_skip_76264 | 5.040949e-01 | 6.508323e-11 |
| STG | PABPN1L | exon_skip_128439 | -4.379903e-01 | 1.579739e-05 |
| STG | ILF2 | exon_skip_128439 | 4.571959e-01 | 5.898831e-06 |
| STG | HNRNPCL1 | exon_skip_128439 | 4.792401e-01 | 1.764979e-06 |
| STG | RALYL | exon_skip_128439 | 5.839626e-01 | 1.526869e-09 |
| STG | HNRNPH2 | exon_skip_128439 | 5.773909e-01 | 2.561299e-09 |
| STG | HNRNPCL1 | exon_skip_227233 | 4.907235e-01 | 3.305435e-06 |
| STG | RALYL | exon_skip_227233 | 4.151138e-01 | 1.165106e-04 |
| STG | HNRNPH2 | exon_skip_227233 | 4.599647e-01 | 1.559924e-05 |
| STG | RALYL | exon_skip_76264 | 4.020562e-01 | 7.447166e-04 |
| TC | SRSF2 | exon_skip_128439 | 5.445974e-01 | 1.395579e-13 |
| TC | RBM25 | exon_skip_128439 | 4.499743e-01 | 3.000815e-09 |
| TC | CNOT4 | exon_skip_128439 | 5.070546e-01 | 1.057750e-11 |
| TC | PCBP1 | exon_skip_128439 | 4.495539e-01 | 3.116598e-09 |
| TC | ILF2 | exon_skip_128439 | 6.212090e-01 | 3.088775e-18 |
| TC | HNRNPDL | exon_skip_128439 | 5.234765e-01 | 1.700389e-12 |
| TC | RALYL | exon_skip_128439 | 9.413428e-01 | 1.704556e-75 |
| TC | PTBP3 | exon_skip_128439 | 5.523044e-01 | 5.361778e-14 |
| TC | EWSR1 | exon_skip_128439 | 4.647359e-01 | 7.683316e-10 |
| TC | SRSF5 | exon_skip_128439 | 4.634853e-01 | 8.645223e-10 |
| TC | HNRNPH2 | exon_skip_128439 | 8.037585e-01 | 5.219966e-37 |
| TC | ESRP1 | exon_skip_128439 | 7.068028e-01 | 3.172743e-25 |
| TC | NOVA1 | exon_skip_128439 | 7.366655e-01 | 2.707635e-28 |
| TC | SRSF2 | exon_skip_227233 | 5.229900e-01 | 2.115528e-12 |
| TC | RBM25 | exon_skip_227233 | 4.362309e-01 | 1.123354e-08 |
| TC | CNOT4 | exon_skip_227233 | 4.966852e-01 | 3.690651e-11 |
| TC | PCBP1 | exon_skip_227233 | 4.395980e-01 | 8.405527e-09 |
| TC | ILF2 | exon_skip_227233 | 6.100900e-01 | 2.222058e-17 |
| TC | HNRNPDL | exon_skip_227233 | 4.963429e-01 | 3.824479e-11 |
| TC | RALYL | exon_skip_227233 | 9.185573e-01 | 2.312275e-64 |
| TC | PTBP3 | exon_skip_227233 | 5.153757e-01 | 4.964032e-12 |
| TC | EWSR1 | exon_skip_227233 | 4.684274e-01 | 6.141264e-10 |
| TC | SRSF5 | exon_skip_227233 | 4.680463e-01 | 6.367617e-10 |
| TC | HNRNPH2 | exon_skip_227233 | 7.700513e-01 | 4.602322e-32 |
| TC | ESRP1 | exon_skip_227233 | 6.927804e-01 | 9.044100e-24 |
| TC | NOVA1 | exon_skip_227233 | 7.149540e-01 | 7.238777e-26 |
| TC | SRSF2 | exon_skip_76264 | 4.635867e-01 | 9.694043e-10 |
| TC | RALYL | exon_skip_76264 | 8.398190e-01 | 5.730164e-43 |
| TC | HNRNPH2 | exon_skip_76264 | 6.839121e-01 | 5.531495e-23 |
| TC | NOVA1 | exon_skip_76264 | 6.293953e-01 | 1.060907e-18 |
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RelatedDrugs for ATP2B1 |
| 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 ATP2B1 |
| 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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