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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 ATP13A3 |
 Gene summary |
| Gene information | Gene symbol | ATP13A3 | Gene ID | 79572 |
| Gene name | ATPase 13A3 | |
| Synonyms | AFURS1 | |
| Cytomap | 3q29 | |
| Type of gene | protein-coding | |
| Description | probable cation-transporting ATPase 13A3ATPase family homolog up-regulated in senescence cells 1ATPase type 13A3 | |
| 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 |
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Gene structures and expression levels for ATP13A3 |
| 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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ENSG00000133657
| 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 |
| CB | DOWN | ENST00000619199.4 | ATP13A3-211:protein_coding:ATP13A3 | 2.129793e+02 | -2.601734e+00 | 1.202079e-09 | 5.065773e-08 |
| TC | DOWN | ENST00000619199.4 | ATP13A3-211:protein_coding:ATP13A3 | 9.235982e+01 | -2.142426e+00 | 2.573837e-11 | 6.168062e-09 |
| 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 ATP13A3 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_120392 | chr3 | 194454258:194454392:194455893:194455962:194459471:194459541 | 194455893:194455962 |
| exon_skip_124820 | chr3 | 194462140:194462236:194485794:194485835:194486566:194486659 | 194485794:194485835 |
| exon_skip_13732 | chr3 | 194406002:194406116:194412199:194412288:194413759:194413839 | 194412199:194412288 |
| exon_skip_138201 | chr3 | 194437311:194437464:194437556:194437573:194438856:194438972 | 194437556:194437573 |
| exon_skip_153020 | chr3 | 194441311:194441461:194444725:194444786:194446927:194447115 | 194444725:194444786 |
| exon_skip_166370 | chr3 | 194403465:194406116:194412199:194412288:194413759:194413839 | 194412199:194412288 |
| exon_skip_182474 | chr3 | 194419879:194419967:194424402:194424432:194425342:194425412 | 194424402:194424432 |
| exon_skip_200275 | chr3 | 194403465:194406116:194413759:194413839:194419879:194419904 | 194413759:194413839 |
| exon_skip_229377 | chr3 | 194419879:194419967:194424402:194424432:194425342:194425529 | 194424402:194424432 |
| exon_skip_237545 | chr3 | 194427075:194427252:194428845:194428917:194429678:194429774 | 194428845:194428917 |
| exon_skip_27242 | chr3 | 194438856:194438972:194441311:194441461:194444725:194444786 | 194441311:194441461 |
| exon_skip_275465 | chr3 | 194431717:194431892:194433772:194433896:194437095:194437215 | 194433772:194433896 |
| exon_skip_41205 | chr3 | 194403465:194406116:194413759:194413839:194419879:194419967 | 194413759:194413839 |
| exon_skip_5585 | chr3 | 194419913:194419967:194424402:194424432:194425342:194425529 | 194424402:194424432 |
| exon_skip_64709 | chr3 | 194419879:194419967:194425342:194425529:194427075:194427252 | 194425342:194425529 |
| exon_skip_69556 | chr3 | 194425342:194425529:194427075:194427252:194428845:194428917 | 194427075:194427252 |
| exon_skip_75692 | chr3 | 194455893:194455962:194457094:194457174:194459471:194459541 | 194457094:194457174 |
| 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_75692 | Mayo_CB | 5.001299e-01 | 6.035714e-01 | -1.034416e-01 | 4.542757e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for ATP13A3 |
| 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 |
| ENST00000256031 | 194425342 | 194425529 | Frame-shift |
| ENST00000439040 | 194425342 | 194425529 | Frame-shift |
| ENST00000645538 | 194425342 | 194425529 | Frame-shift |
| ENST00000256031 | 194427075 | 194427252 | Frame-shift |
| ENST00000439040 | 194427075 | 194427252 | Frame-shift |
| ENST00000645538 | 194427075 | 194427252 | Frame-shift |
| ENST00000256031 | 194441311 | 194441461 | Frame-shift |
| ENST00000439040 | 194441311 | 194441461 | Frame-shift |
| ENST00000645538 | 194441311 | 194441461 | Frame-shift |
| ENST00000256031 | 194444725 | 194444786 | Frame-shift |
| ENST00000439040 | 194444725 | 194444786 | Frame-shift |
| ENST00000645538 | 194444725 | 194444786 | Frame-shift |
| ENST00000256031 | 194413759 | 194413839 | In-frame |
| ENST00000439040 | 194413759 | 194413839 | In-frame |
| ENST00000645538 | 194413759 | 194413839 | In-frame |
| ENST00000256031 | 194457094 | 194457174 | In-frame |
| ENST00000439040 | 194457094 | 194457174 | In-frame |
| ENST00000645538 | 194457094 | 194457174 | 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 |
| ENST00000256031 | 194425342 | 194425529 | Frame-shift |
| ENST00000439040 | 194425342 | 194425529 | Frame-shift |
| ENST00000645538 | 194425342 | 194425529 | Frame-shift |
| ENST00000256031 | 194441311 | 194441461 | Frame-shift |
| ENST00000439040 | 194441311 | 194441461 | Frame-shift |
| ENST00000645538 | 194441311 | 194441461 | Frame-shift |
| ENST00000256031 | 194444725 | 194444786 | Frame-shift |
| ENST00000439040 | 194444725 | 194444786 | Frame-shift |
| ENST00000645538 | 194444725 | 194444786 | Frame-shift |
| ENST00000256031 | 194413759 | 194413839 | In-frame |
| ENST00000439040 | 194413759 | 194413839 | In-frame |
| ENST00000645538 | 194413759 | 194413839 | In-frame |
| ENST00000256031 | 194457094 | 194457174 | In-frame |
| ENST00000439040 | 194457094 | 194457174 | In-frame |
| ENST00000645538 | 194457094 | 194457174 | 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 |
| ENST00000645538 | 194485794 | 194485835 | 3UTR-3UTR |
| ENST00000256031 | 194425342 | 194425529 | Frame-shift |
| ENST00000439040 | 194425342 | 194425529 | Frame-shift |
| ENST00000645538 | 194425342 | 194425529 | Frame-shift |
| ENST00000256031 | 194427075 | 194427252 | Frame-shift |
| ENST00000439040 | 194427075 | 194427252 | Frame-shift |
| ENST00000645538 | 194427075 | 194427252 | Frame-shift |
| ENST00000256031 | 194428845 | 194428917 | Frame-shift |
| ENST00000439040 | 194428845 | 194428917 | Frame-shift |
| ENST00000645538 | 194428845 | 194428917 | Frame-shift |
| ENST00000256031 | 194433772 | 194433896 | Frame-shift |
| ENST00000439040 | 194433772 | 194433896 | Frame-shift |
| ENST00000645538 | 194433772 | 194433896 | Frame-shift |
| ENST00000256031 | 194441311 | 194441461 | Frame-shift |
| ENST00000439040 | 194441311 | 194441461 | Frame-shift |
| ENST00000645538 | 194441311 | 194441461 | Frame-shift |
| ENST00000256031 | 194444725 | 194444786 | Frame-shift |
| ENST00000439040 | 194444725 | 194444786 | Frame-shift |
| ENST00000645538 | 194444725 | 194444786 | Frame-shift |
| ENST00000256031 | 194413759 | 194413839 | In-frame |
| ENST00000439040 | 194413759 | 194413839 | In-frame |
| ENST00000645538 | 194413759 | 194413839 | In-frame |
| ENST00000256031 | 194437556 | 194437573 | In-frame |
| ENST00000439040 | 194437556 | 194437573 | In-frame |
| ENST00000645538 | 194437556 | 194437573 | In-frame |
| ENST00000256031 | 194457094 | 194457174 | In-frame |
| ENST00000439040 | 194457094 | 194457174 | In-frame |
| ENST00000645538 | 194457094 | 194457174 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP13A3 |
p-ENSG00000133657_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 |
| ENST00000256031 | 7339 | 1226 | 194457094 | 194457174 | 882 | 961 | 160 | 186 |
| ENST00000439040 | 7737 | 1226 | 194457094 | 194457174 | 1272 | 1351 | 160 | 186 |
| ENST00000645538 | 7468 | 1226 | 194457094 | 194457174 | 1005 | 1084 | 160 | 186 |
| ENST00000256031 | 7339 | 1226 | 194413759 | 194413839 | 3805 | 3884 | 1134 | 1160 |
| ENST00000439040 | 7737 | 1226 | 194413759 | 194413839 | 4195 | 4274 | 1134 | 1160 |
| ENST00000645538 | 7468 | 1226 | 194413759 | 194413839 | 3928 | 4007 | 1134 | 1160 |
| 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 |
| ENST00000256031 | 7339 | 1226 | 194457094 | 194457174 | 882 | 961 | 160 | 186 |
| ENST00000439040 | 7737 | 1226 | 194457094 | 194457174 | 1272 | 1351 | 160 | 186 |
| ENST00000645538 | 7468 | 1226 | 194457094 | 194457174 | 1005 | 1084 | 160 | 186 |
| ENST00000256031 | 7339 | 1226 | 194413759 | 194413839 | 3805 | 3884 | 1134 | 1160 |
| ENST00000439040 | 7737 | 1226 | 194413759 | 194413839 | 4195 | 4274 | 1134 | 1160 |
| ENST00000645538 | 7468 | 1226 | 194413759 | 194413839 | 3928 | 4007 | 1134 | 1160 |
| 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 |
| ENST00000256031 | 7339 | 1226 | 194457094 | 194457174 | 882 | 961 | 160 | 186 |
| ENST00000439040 | 7737 | 1226 | 194457094 | 194457174 | 1272 | 1351 | 160 | 186 |
| ENST00000645538 | 7468 | 1226 | 194457094 | 194457174 | 1005 | 1084 | 160 | 186 |
| ENST00000256031 | 7339 | 1226 | 194413759 | 194413839 | 3805 | 3884 | 1134 | 1160 |
| ENST00000439040 | 7737 | 1226 | 194413759 | 194413839 | 4195 | 4274 | 1134 | 1160 |
| ENST00000645538 | 7468 | 1226 | 194413759 | 194413839 | 3928 | 4007 | 1134 | 1160 |
| 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 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | 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 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | 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 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 277 | Alternative sequence | ID=VSP_007314;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 160 | 186 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 979 | 1226 | Alternative sequence | ID=VSP_007316;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11867234;Dbxref=PMID:11867234 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1 | 1226 | Chain | ID=PRO_0000046425;Note=Probable cation-transporting ATPase 13A3 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H7F0 | 1134 | 1160 | 1144 | 1164 | 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 ATP13A3 |
| 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 |
| Mayo | ENST00000645538 | 194485794 | 194485835 | hsa-miR-345-3p | chr3:194485816-194485823 | 8mer-1a | chr3:194485801-194485823 | 159.00 | -23.08 |
| Mayo | ENST00000645538 | 194485794 | 194485835 | hsa-miR-4526 | chr3:194485827-194485834 | 8mer-1a | chr3:194485812-194485834 | 148.00 | -19.65 |
| Mayo | ENST00000645538 | 194485794 | 194485835 | hsa-miR-3660 | chr3:194485827-194485834 | 8mer-1a | chr3:194485812-194485834 | 148.00 | -19.65 |
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SNVs in the skipped exons for ATP13A3 |
| - 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 ATP13A3 |
| 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 ATP13A3 |
| 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 ATP13A3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_75692 | -4.122497e-01 | 8.202331e-07 |
| CB | TRA2A | exon_skip_75692 | -4.754244e-01 | 7.350819e-09 |
| CB | SNRPA | exon_skip_75692 | -5.189154e-01 | 1.566313e-10 |
| CB | RBM45 | exon_skip_75692 | 4.270951e-01 | 2.947405e-07 |
| CB | RBM4 | exon_skip_75692 | -5.340702e-01 | 3.588361e-11 |
| IFG | IGF2BP2 | exon_skip_166370 | -4.147844e-01 | 2.818443e-02 |
| PG | RBFOX2 | exon_skip_75692 | -4.447657e-01 | 5.994801e-09 |
| PG | G3BP2 | exon_skip_75692 | -4.437926e-01 | 6.526733e-09 |
| PG | KHDRBS3 | exon_skip_75692 | -4.658363e-01 | 8.896548e-10 |
| PG | RALYL | exon_skip_75692 | -4.774706e-01 | 2.931131e-10 |
| TC | RBM24 | exon_skip_166370 | 5.167969e-01 | 1.766684e-11 |
| TC | NUP42 | exon_skip_166370 | 4.900286e-01 | 2.594240e-10 |
| TC | RALYL | exon_skip_166370 | 5.513031e-01 | 3.842171e-13 |
| TC | RBFOX2 | exon_skip_75692 | -4.499465e-01 | 1.777571e-07 |
| TC | G3BP2 | exon_skip_75692 | -4.013796e-01 | 4.203463e-06 |
| TC | KHDRBS3 | exon_skip_75692 | -4.697476e-01 | 4.221624e-08 |
| TC | RALYL | exon_skip_75692 | -4.250408e-01 | 9.572809e-07 |
| TC | CELF1 | exon_skip_75692 | -4.342218e-01 | 5.227001e-07 |
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RelatedDrugs for ATP13A3 |
| 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 ATP13A3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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