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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 ATP8B4 |
 Gene summary |
| Gene information | Gene symbol | ATP8B4 | Gene ID | 79895 |
| Gene name | ATPase phospholipid transporting 8B4 (putative) | |
| Synonyms | ATPIM | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | probable phospholipid-transporting ATPase IMATPase, class I, type 8B, member 4P4-ATPase flippase complex alpha subunit ATP8B4potential phospholipid-transporting ATPase IM | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 17998437(Candidate Single-Nucleotide Polymorphisms From a Genomewide Association Study of Alzheimer Disease) |
| 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 ATP8B4 |
| 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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ENSG00000104043
| 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 | ENST00000557955.5 | ATP8B4-202:nonsense_mediated_decay:ATP8B4 | 3.682074e+00 | 1.405144e+00 | 1.265136e-02 | 4.208641e-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 ATP8B4 |
| 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_113096 | chr15 | 50002153:50002223:50010845:50010917:50038768:50038829 | 50010845:50010917 |
| exon_skip_132726 | chr15 | 49981206:49981294:49987391:49987549:49996677:49996759 | 49987391:49987549 |
| exon_skip_147876 | chr15 | 49898146:49898251:49901092:49901239:49916934:49917039 | 49901092:49901239 |
| exon_skip_193843 | chr15 | 50047392:50047464:50074127:50074185:50106939:50107008 | 50074127:50074185 |
| exon_skip_224552 | chr15 | 49923379:49923494:49931119:49931307:49934017:49934182 | 49931119:49931307 |
| exon_skip_257200 | chr15 | 50010845:50010917:50038768:50038829:50044594:50044674 | 50038768:50038829 |
| exon_skip_277078 | chr15 | 49920274:49920410:49922224:49922405:49923379:49923494 | 49922224:49922405 |
| exon_skip_295982 | chr15 | 50010845:50010917:50018889:50018976:50038768:50038829 | 50018889:50018976 |
| exon_skip_36642 | chr15 | 49987512:49987549:49996677:49996759:50002153:50002223 | 49996677:49996759 |
| exon_skip_75644 | chr15 | 50018889:50018976:50038768:50038829:50044594:50044674 | 50038768:50038829 |
| exon_skip_95400 | chr15 | 50074127:50074185:50106939:50107008:50114426:50114504 | 50106939:50107008 |
| 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 ATP8B4 |
| 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 |
| ENST00000559829 | 50106939 | 50107008 | 3UTR-3CDS |
| ENST00000284509 | 49901092 | 49901239 | Frame-shift |
| ENST00000559829 | 49901092 | 49901239 | Frame-shift |
| ENST00000284509 | 49996677 | 49996759 | Frame-shift |
| ENST00000559829 | 49996677 | 49996759 | Frame-shift |
| ENST00000284509 | 50010845 | 50010917 | Frame-shift |
| ENST00000559829 | 50010845 | 50010917 | Frame-shift |
| ENST00000284509 | 50038768 | 50038829 | Frame-shift |
| ENST00000559829 | 50038768 | 50038829 | Frame-shift |
| ENST00000284509 | 50074127 | 50074185 | Frame-shift |
| ENST00000559829 | 50074127 | 50074185 | Frame-shift |
| ENST00000284509 | 49931119 | 49931307 | In-frame |
| ENST00000559829 | 49931119 | 49931307 | In-frame |
| ENST00000284509 | 49987391 | 49987549 | In-frame |
| ENST00000559829 | 49987391 | 49987549 | 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 |
| ENST00000284509 | 49901092 | 49901239 | Frame-shift |
| ENST00000559829 | 49901092 | 49901239 | Frame-shift |
| ENST00000284509 | 49996677 | 49996759 | Frame-shift |
| ENST00000559829 | 49996677 | 49996759 | Frame-shift |
| ENST00000284509 | 50010845 | 50010917 | Frame-shift |
| ENST00000559829 | 50010845 | 50010917 | Frame-shift |
| ENST00000284509 | 50038768 | 50038829 | Frame-shift |
| ENST00000559829 | 50038768 | 50038829 | Frame-shift |
| ENST00000284509 | 49931119 | 49931307 | In-frame |
| ENST00000559829 | 49931119 | 49931307 | In-frame |
| ENST00000284509 | 49987391 | 49987549 | In-frame |
| ENST00000559829 | 49987391 | 49987549 | 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 |
| ENST00000284509 | 49901092 | 49901239 | Frame-shift |
| ENST00000559829 | 49901092 | 49901239 | Frame-shift |
| ENST00000284509 | 49996677 | 49996759 | Frame-shift |
| ENST00000559829 | 49996677 | 49996759 | Frame-shift |
| ENST00000284509 | 50038768 | 50038829 | Frame-shift |
| ENST00000559829 | 50038768 | 50038829 | Frame-shift |
| ENST00000284509 | 49931119 | 49931307 | In-frame |
| ENST00000559829 | 49931119 | 49931307 | In-frame |
| ENST00000284509 | 49987391 | 49987549 | In-frame |
| ENST00000559829 | 49987391 | 49987549 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP8B4 |
p-ENSG00000104043_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 |
| ENST00000284509 | 5693 | 1192 | 49987391 | 49987549 | 732 | 889 | 196 | 249 |
| ENST00000559829 | 4911 | 1192 | 49987391 | 49987549 | 711 | 868 | 196 | 249 |
| ENST00000284509 | 5693 | 1192 | 49931119 | 49931307 | 1596 | 1783 | 484 | 547 |
| ENST00000559829 | 4911 | 1192 | 49931119 | 49931307 | 1575 | 1762 | 484 | 547 |
| 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 |
| ENST00000284509 | 5693 | 1192 | 49987391 | 49987549 | 732 | 889 | 196 | 249 |
| ENST00000559829 | 4911 | 1192 | 49987391 | 49987549 | 711 | 868 | 196 | 249 |
| ENST00000284509 | 5693 | 1192 | 49931119 | 49931307 | 1596 | 1783 | 484 | 547 |
| ENST00000559829 | 4911 | 1192 | 49931119 | 49931307 | 1575 | 1762 | 484 | 547 |
| 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 |
| ENST00000284509 | 5693 | 1192 | 49987391 | 49987549 | 732 | 889 | 196 | 249 |
| ENST00000559829 | 4911 | 1192 | 49987391 | 49987549 | 711 | 868 | 196 | 249 |
| ENST00000284509 | 5693 | 1192 | 49931119 | 49931307 | 1596 | 1783 | 484 | 547 |
| ENST00000559829 | 4911 | 1192 | 49931119 | 49931307 | 1575 | 1762 | 484 | 547 |
| 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 |
| Q8TF62 | 196 | 249 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 196 | 249 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 196 | 249 | 225 | 225 | Natural variant | ID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151 |
| Q8TF62 | 196 | 249 | 225 | 225 | Natural variant | ID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151 |
| Q8TF62 | 196 | 249 | 93 | 276 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 196 | 249 | 93 | 276 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 484 | 547 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 484 | 547 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 484 | 547 | 350 | 871 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 484 | 547 | 350 | 871 | Topological domain | Note=Cytoplasmic;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 |
| Q8TF62 | 196 | 249 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 196 | 249 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 196 | 249 | 225 | 225 | Natural variant | ID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151 |
| Q8TF62 | 196 | 249 | 225 | 225 | Natural variant | ID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151 |
| Q8TF62 | 196 | 249 | 93 | 276 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 196 | 249 | 93 | 276 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 484 | 547 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 484 | 547 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 484 | 547 | 350 | 871 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 484 | 547 | 350 | 871 | Topological domain | Note=Cytoplasmic;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 |
| Q8TF62 | 196 | 249 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 196 | 249 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 196 | 249 | 225 | 225 | Natural variant | ID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151 |
| Q8TF62 | 196 | 249 | 225 | 225 | Natural variant | ID=VAR_046962;Note=N->S;Dbxref=dbSNP:rs16963151 |
| Q8TF62 | 196 | 249 | 93 | 276 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 196 | 249 | 93 | 276 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 484 | 547 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 484 | 547 | 1 | 1192 | Chain | ID=PRO_0000046368;Note=Probable phospholipid-transporting ATPase IM |
| Q8TF62 | 484 | 547 | 350 | 871 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF62 | 484 | 547 | 350 | 871 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP8B4 |
| 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 ATP8B4 |
| - 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 ATP8B4 |
| 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 ATP8B4 |
| 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 ATP8B4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATP8B4 |
| 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 ATP8B4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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