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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 ATP8A1 |
 Gene summary |
| Gene information | Gene symbol | ATP8A1 | Gene ID | 10396 |
| Gene name | ATPase phospholipid transporting 8A1 | |
| Synonyms | ATPASEII|ATPIA|ATPP2 | |
| Cytomap | 4p13 | |
| Type of gene | protein-coding | |
| Description | phospholipid-transporting ATPase IAATPase IIATPase class I type 8A member 1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1P4-ATPase flippase complex alpha subunit ATP8A1aminophospholipid translocasechromaffin granule ATPase | |
| 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 |
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Gene structures and expression levels for ATP8A1 |
| 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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ENSG00000124406
| 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 | DOWN | ENST00000506602.5 | ATP8A1-205:nonsense_mediated_decay:ATP8A1 | 1.498486e+01 | -9.690458e-01 | 1.472486e-03 | 4.679138e-02 |
| CB | UP | ENST00000504024.1 | ATP8A1-203:nonsense_mediated_decay:ATP8A1 | 2.068238e+00 | 1.086697e+00 | 9.841596e-05 | 7.303199e-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 ATP8A1 |
| 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_156764 | chr4 | 42464893:42465076:42485496:42485668:42503450:42503514 | 42485496:42485668 |
| exon_skip_190151 | chr4 | 42455525:42455599:42464690:42464800:42464893:42465075 | 42464690:42464800 |
| exon_skip_220144 | chr4 | 42451981:42452059:42455297:42455419:42455525:42455599 | 42455297:42455419 |
| exon_skip_2344 | chr4 | 42549013:42549062:42551198:42551280:42552505:42552610 | 42551198:42551280 |
| exon_skip_252959 | chr4 | 42423617:42423705:42443565:42443672:42444578:42444634 | 42443565:42443672 |
| exon_skip_263973 | chr4 | 42555968:42556040:42569161:42569205:42574619:42574707 | 42569161:42569205 |
| exon_skip_274733 | chr4 | 42588260:42588329:42590811:42590884:42600478:42600518 | 42590811:42590884 |
| exon_skip_280966 | chr4 | 42451981:42452059:42455297:42455433:42455525:42455599 | 42455297:42455433 |
| exon_skip_281998 | chr4 | 42600478:42600518:42616033:42616078:42624536:42624634 | 42616033:42616078 |
| exon_skip_34724 | chr4 | 42588260:42588329:42594289:42594362:42600478:42600516 | 42594289:42594362 |
| exon_skip_38128 | chr4 | 42588260:42588329:42590811:42590884:42600478:42600516 | 42590811:42590884 |
| exon_skip_77662 | chr4 | 42624536:42624634:42625614:42625713:42626995:42627109 | 42625614:42625713 |
| exon_skip_77918 | chr4 | 42524763:42524847:42543917:42543986:42549013:42549062 | 42543917:42543986 |
| exon_skip_78244 | chr4 | 42588260:42588329:42594289:42594362:42600478:42600518 | 42594289:42594362 |
| 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_263973 | MSBB_PG | 4.421088e-01 | 6.267273e-01 | -1.846184e-01 | 1.231484e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for ATP8A1 |
| 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 |
| ENST00000381668 | 42485496 | 42485668 | Frame-shift |
| ENST00000381668 | 42543917 | 42543986 | Frame-shift |
| ENST00000381668 | 42590811 | 42590884 | Frame-shift |
| ENST00000381668 | 42616033 | 42616078 | Frame-shift |
| ENST00000381668 | 42625614 | 42625713 | Frame-shift |
| ENST00000381668 | 42443565 | 42443672 | In-frame |
| ENST00000381668 | 42464690 | 42464800 | In-frame |
| ENST00000381668 | 42569161 | 42569205 | 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 |
| ENST00000381668 | 42485496 | 42485668 | Frame-shift |
| ENST00000381668 | 42543917 | 42543986 | Frame-shift |
| ENST00000381668 | 42590811 | 42590884 | Frame-shift |
| ENST00000381668 | 42616033 | 42616078 | Frame-shift |
| ENST00000381668 | 42625614 | 42625713 | Frame-shift |
| ENST00000381668 | 42464690 | 42464800 | In-frame |
| ENST00000381668 | 42569161 | 42569205 | 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 |
| ENST00000381668 | 42485496 | 42485668 | Frame-shift |
| ENST00000381668 | 42543917 | 42543986 | Frame-shift |
| ENST00000381668 | 42551198 | 42551280 | Frame-shift |
| ENST00000381668 | 42590811 | 42590884 | Frame-shift |
| ENST00000381668 | 42616033 | 42616078 | Frame-shift |
| ENST00000381668 | 42625614 | 42625713 | Frame-shift |
| ENST00000381668 | 42443565 | 42443672 | In-frame |
| ENST00000381668 | 42455297 | 42455419 | In-frame |
| ENST00000381668 | 42464690 | 42464800 | In-frame |
| ENST00000381668 | 42569161 | 42569205 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP8A1 |
p-ENSG00000124406_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 |
| ENST00000381668 | 8287 | 1164 | 42569161 | 42569205 | 1528 | 1571 | 432 | 446 |
| ENST00000381668 | 8287 | 1164 | 42464690 | 42464800 | 2741 | 2850 | 836 | 872 |
| ENST00000381668 | 8287 | 1164 | 42443565 | 42443672 | 3248 | 3354 | 1005 | 1040 |
| 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 |
| ENST00000381668 | 8287 | 1164 | 42569161 | 42569205 | 1528 | 1571 | 432 | 446 |
| ENST00000381668 | 8287 | 1164 | 42464690 | 42464800 | 2741 | 2850 | 836 | 872 |
| 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 |
| ENST00000381668 | 8287 | 1164 | 42569161 | 42569205 | 1528 | 1571 | 432 | 446 |
| ENST00000381668 | 8287 | 1164 | 42464690 | 42464800 | 2741 | 2850 | 836 | 872 |
| ENST00000381668 | 8287 | 1164 | 42455297 | 42455419 | 2927 | 3048 | 898 | 938 |
| ENST00000381668 | 8287 | 1164 | 42443565 | 42443672 | 3248 | 3354 | 1005 | 1040 |
| 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 |
| Q9Y2Q0 | 432 | 446 | 433 | 447 | Alternative sequence | ID=VSP_000431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10198212,ECO:0000303|PubMed:15489334;Dbxref=PMID:10198212,PMID:15489334 |
| Q9Y2Q0 | 432 | 446 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 432 | 446 | 443 | 443 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P70704 |
| Q9Y2Q0 | 432 | 446 | 367 | 857 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 836 | 872 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 836 | 872 | 367 | 857 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 836 | 872 | 858 | 878 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 1005 | 1040 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 1005 | 1040 | 1000 | 1005 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 1005 | 1040 | 1027 | 1044 | Topological domain | Note=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 1005 | 1040 | 1006 | 1026 | Transmembrane | Note=Helical;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 |
| Q9Y2Q0 | 432 | 446 | 433 | 447 | Alternative sequence | ID=VSP_000431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10198212,ECO:0000303|PubMed:15489334;Dbxref=PMID:10198212,PMID:15489334 |
| Q9Y2Q0 | 432 | 446 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 432 | 446 | 443 | 443 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P70704 |
| Q9Y2Q0 | 432 | 446 | 367 | 857 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 836 | 872 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 836 | 872 | 367 | 857 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 836 | 872 | 858 | 878 | Transmembrane | Note=Helical;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 |
| Q9Y2Q0 | 432 | 446 | 433 | 447 | Alternative sequence | ID=VSP_000431;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10198212,ECO:0000303|PubMed:15489334;Dbxref=PMID:10198212,PMID:15489334 |
| Q9Y2Q0 | 432 | 446 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 432 | 446 | 443 | 443 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P70704 |
| Q9Y2Q0 | 432 | 446 | 367 | 857 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 836 | 872 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 836 | 872 | 367 | 857 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 836 | 872 | 858 | 878 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 898 | 938 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 898 | 938 | 911 | 940 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 898 | 938 | 891 | 910 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 1005 | 1040 | 1 | 1164 | Chain | ID=PRO_0000046360;Note=Phospholipid-transporting ATPase IA |
| Q9Y2Q0 | 1005 | 1040 | 1000 | 1005 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 1005 | 1040 | 1027 | 1044 | Topological domain | Note=Exoplasmic loop;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2Q0 | 1005 | 1040 | 1006 | 1026 | 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 ATP8A1 |
| 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 ATP8A1 |
| - 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 ATP8A1 |
| 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 ATP8A1 |
| 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 ATP8A1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_274733 | -4.016386e-01 | 1.037844e-05 |
| CB | UNK | exon_skip_274733 | 4.971457e-01 | 2.128116e-08 |
| FL | G3BP2 | exon_skip_263973 | 5.529073e-01 | 6.313440e-17 |
| HCC | RBM6 | exon_skip_263973 | -6.922024e-01 | 2.042876e-38 |
| HCC | G3BP2 | exon_skip_263973 | 4.625325e-01 | 3.456842e-15 |
| IFG | G3BP2 | exon_skip_263973 | 6.759921e-01 | 7.874080e-05 |
| PCC | RBM6 | exon_skip_263973 | -5.142909e-01 | 1.074785e-14 |
| PCC | G3BP2 | exon_skip_263973 | 6.121443e-01 | 1.210954e-21 |
| PG | HNRNPK | exon_skip_263973 | 4.338045e-01 | 1.123041e-10 |
| PG | G3BP2 | exon_skip_263973 | 6.858933e-01 | 2.008962e-29 |
| STG | G3BP2 | exon_skip_263973 | 5.727971e-01 | 4.480182e-09 |
| TC | RBM6 | exon_skip_263973 | -4.666801e-01 | 1.543092e-09 |
| TC | MBNL1 | exon_skip_263973 | 5.438010e-01 | 5.365684e-13 |
| TC | HNRNPK | exon_skip_263973 | 5.318618e-01 | 2.106379e-12 |
| TC | G3BP2 | exon_skip_263973 | 8.076208e-01 | 5.372441e-36 |
| TC | PTBP3 | exon_skip_263973 | 6.051089e-01 | 1.886205e-16 |
| TC | RBM6 | exon_skip_38128 | -5.601703e-01 | 9.154560e-11 |
| TC | HNRNPH2 | exon_skip_38128 | 4.336301e-01 | 1.439411e-06 |
| TC | HNRNPF | exon_skip_38128 | -4.319487e-01 | 1.596943e-06 |
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RelatedDrugs for ATP8A1 |
| 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 ATP8A1 |
| 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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