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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ATP13A2 |
 Gene summary |
| Gene information | Gene symbol | ATP13A2 | Gene ID | 23400 |
| Gene name | ATPase cation transporting 13A2 | |
| Synonyms | CLN12|HSA9947|KRPPD|PARK9|SPG78 | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | cation-transporting ATPase 13A2ATPase 13A2ATPase type 13A2probable cation-transporting ATPase 13A2 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9NQ11 | |
| Context | PubMed: ATP13A2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ATP13A2 | GO:0006874 | cellular calcium ion homeostasis | 22186024 |
| ATP13A2 | GO:0010821 | regulation of mitochondrion organization | 22186024 |
| ATP13A2 | GO:0016243 | regulation of autophagosome size | 22186024 |
| ATP13A2 | GO:1902047 | polyamine transmembrane transport | 23205587 |
| ATP13A2 | GO:1903543 | positive regulation of exosomal secretion | 24603074 |
| ATP13A2 | GO:1905037 | autophagosome organization | 22186024 |
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Exon skipping events across known transcript of Ensembl for ATP13A2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ATP13A2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ATP13A2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22146 | 1 | 17312475:17312853:17312957:17313127:17313299:17313370 | 17312957:17313127 | ENSG00000159363.13 | ENST00000326735.8,ENST00000452699.1 |
| exon_skip_22148 | 1 | 17314816:17314969:17316185:17316265:17316621:17316782 | 17316185:17316265 | ENSG00000159363.13 | ENST00000341676.5 |
| exon_skip_22150 | 1 | 17316185:17316265:17316381:17316498:17316621:17316782 | 17316381:17316498 | ENSG00000159363.13 | ENST00000466561.1,ENST00000326735.8,ENST00000452699.1 |
| exon_skip_22153 | 1 | 17318228:17318353:17318503:17318624:17318737:17318837 | 17318503:17318624 | ENSG00000159363.13 | ENST00000341676.5,ENST00000326735.8,ENST00000503552.1,ENST00000452699.1 |
| exon_skip_22160 | 1 | 17318980:17319076:17320123:17320330:17322470:17322659 | 17320123:17320330 | ENSG00000159363.13 | ENST00000341676.5,ENST00000326735.8,ENST00000452699.1 |
| exon_skip_22163 | 1 | 17320123:17320330:17322470:17322659:17322748:17322778 | 17322470:17322659 | ENSG00000159363.13 | ENST00000341676.5,ENST00000326735.8,ENST00000452699.1 |
| exon_skip_22165 | 1 | 17322748:17322795:17322880:17322973:17323514:17323667 | 17322880:17322973 | ENSG00000159363.13 | ENST00000506174.1 |
| exon_skip_22166 | 1 | 17322748:17322795:17322880:17322991:17323514:17323667 | 17322880:17322991 | ENSG00000159363.13 | ENST00000341676.5,ENST00000326735.8,ENST00000452699.1,ENST00000463860.1 |
| exon_skip_22168 | 1 | 17323514:17323670:17326505:17326637:17326740:17326786 | 17326505:17326637 | ENSG00000159363.13 | ENST00000341676.5,ENST00000326735.8,ENST00000502860.1,ENST00000506174.1,ENST00000452699.1,ENST00000463860.1 |
| exon_skip_22171 | 1 | 17326894:17327002:17328528:17328598:17328790:17328868 | 17328528:17328598 | ENSG00000159363.13 | ENST00000511957.1,ENST00000508222.1 |
| exon_skip_22173 | 1 | 17326894:17327029:17328528:17328598:17328790:17328868 | 17328528:17328598 | ENSG00000159363.13 | ENST00000341676.5,ENST00000326735.8,ENST00000452699.1,ENST00000510069.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP13A2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22146 | 1 | 17312475:17312853:17312957:17313127:17313299:17313370 | 17312957:17313127 | ENSG00000159363.13 | ENST00000326735.8,ENST00000452699.1 |
| exon_skip_22148 | 1 | 17314816:17314969:17316185:17316265:17316621:17316782 | 17316185:17316265 | ENSG00000159363.13 | ENST00000341676.5 |
| exon_skip_22150 | 1 | 17316185:17316265:17316381:17316498:17316621:17316782 | 17316381:17316498 | ENSG00000159363.13 | ENST00000326735.8,ENST00000452699.1,ENST00000466561.1 |
| exon_skip_22153 | 1 | 17318228:17318353:17318503:17318624:17318737:17318837 | 17318503:17318624 | ENSG00000159363.13 | ENST00000326735.8,ENST00000341676.5,ENST00000452699.1,ENST00000503552.1 |
| exon_skip_22160 | 1 | 17318980:17319076:17320123:17320330:17322470:17322659 | 17320123:17320330 | ENSG00000159363.13 | ENST00000326735.8,ENST00000341676.5,ENST00000452699.1 |
| exon_skip_22163 | 1 | 17320123:17320330:17322470:17322659:17322748:17322778 | 17322470:17322659 | ENSG00000159363.13 | ENST00000326735.8,ENST00000341676.5,ENST00000452699.1 |
| exon_skip_22165 | 1 | 17322748:17322795:17322880:17322973:17323514:17323667 | 17322880:17322973 | ENSG00000159363.13 | ENST00000506174.1 |
| exon_skip_22166 | 1 | 17322748:17322795:17322880:17322991:17323514:17323667 | 17322880:17322991 | ENSG00000159363.13 | ENST00000326735.8,ENST00000341676.5,ENST00000452699.1,ENST00000463860.1 |
| exon_skip_22168 | 1 | 17323514:17323670:17326505:17326637:17326740:17326786 | 17326505:17326637 | ENSG00000159363.13 | ENST00000326735.8,ENST00000341676.5,ENST00000452699.1,ENST00000463860.1,ENST00000502860.1,ENST00000506174.1 |
| exon_skip_22171 | 1 | 17326894:17327002:17328528:17328598:17328790:17328868 | 17328528:17328598 | ENSG00000159363.13 | ENST00000511957.1,ENST00000508222.1 |
| exon_skip_22173 | 1 | 17326894:17327029:17328528:17328598:17328790:17328868 | 17328528:17328598 | ENSG00000159363.13 | ENST00000326735.8,ENST00000341676.5,ENST00000452699.1,ENST00000510069.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ATP13A2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000326735 | 17312957 | 17313127 | Frame-shift |
| ENST00000326735 | 17318503 | 17318624 | Frame-shift |
| ENST00000326735 | 17328528 | 17328598 | Frame-shift |
| ENST00000326735 | 17316381 | 17316498 | In-frame |
| ENST00000326735 | 17320123 | 17320330 | In-frame |
| ENST00000326735 | 17322470 | 17322659 | In-frame |
| ENST00000326735 | 17322880 | 17322991 | In-frame |
| ENST00000326735 | 17326505 | 17326637 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000326735 | 17312957 | 17313127 | Frame-shift |
| ENST00000326735 | 17318503 | 17318624 | Frame-shift |
| ENST00000326735 | 17328528 | 17328598 | Frame-shift |
| ENST00000326735 | 17316381 | 17316498 | In-frame |
| ENST00000326735 | 17320123 | 17320330 | In-frame |
| ENST00000326735 | 17322470 | 17322659 | In-frame |
| ENST00000326735 | 17322880 | 17322991 | In-frame |
| ENST00000326735 | 17326505 | 17326637 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP13A2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000326735 | 3857 | 1180 | 17326505 | 17326637 | 942 | 1073 | 302 | 346 |
| ENST00000326735 | 3857 | 1180 | 17322880 | 17322991 | 1230 | 1340 | 398 | 435 |
| ENST00000326735 | 3857 | 1180 | 17322470 | 17322659 | 1388 | 1576 | 451 | 514 |
| ENST00000326735 | 3857 | 1180 | 17320123 | 17320330 | 1577 | 1783 | 514 | 583 |
| ENST00000326735 | 3857 | 1180 | 17316381 | 17316498 | 2447 | 2563 | 804 | 843 |
| Loci of skipped exons in GTEx 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 |
| ENST00000326735 | 3857 | 1180 | 17326505 | 17326637 | 942 | 1073 | 302 | 346 |
| ENST00000326735 | 3857 | 1180 | 17322880 | 17322991 | 1230 | 1340 | 398 | 435 |
| ENST00000326735 | 3857 | 1180 | 17322470 | 17322659 | 1388 | 1576 | 451 | 514 |
| ENST00000326735 | 3857 | 1180 | 17320123 | 17320330 | 1577 | 1783 | 514 | 583 |
| ENST00000326735 | 3857 | 1180 | 17316381 | 17316498 | 2447 | 2563 | 804 | 843 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q9NQ11 | 302 | 346 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 302 | 346 | 322 | 322 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ11 | 302 | 346 | 277 | 425 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 398 | 435 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 398 | 435 | 277 | 425 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 398 | 435 | 426 | 445 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 451 | 514 | 513 | 513 | Active site | Note=4-aspartylphosphate intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NQ11 | 451 | 514 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 451 | 514 | 513 | 513 | Mutagenesis | Note=Loss of ATPase function. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28137957;Dbxref=PMID:28137957 |
| Q9NQ11 | 451 | 514 | 504 | 504 | Natural variant | ID=VAR_058455;Note=In KRS%3B decreased protein stability%3B increased degradation by proteasome%3B novel location to endoplasmic reticulum%3B loss of lysosomal membrane location. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17485 |
| Q9NQ11 | 451 | 514 | 446 | 459 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 451 | 514 | 481 | 932 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 451 | 514 | 460 | 480 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 514 | 583 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 514 | 583 | 517 | 517 | Natural variant | ID=VAR_078055;Note=In SPG78%3B no effect on protein stability%3B loss of autophosphorylation%3B loss of lysosomal location. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28137957;Dbxref=dbSNP:rs1057519291,PMID:28137957 |
| Q9NQ11 | 514 | 583 | 522 | 522 | Natural variant | ID=VAR_078056;Note=In KRS%3B unknown pathological significance. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22296644;Dbxref=PMID:22296644 |
| Q9NQ11 | 514 | 583 | 533 | 533 | Natural variant | ID=VAR_058456;Note=In a patient with early onset Parkinson disease and KRS%3B decreased ATPase activity%3B no effect on autophosphorylation%3B no effect on stability%3B no effect on location. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence |
| Q9NQ11 | 514 | 583 | 578 | 578 | Natural variant | ID=VAR_058457;Note=V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19085912;Dbxref=dbSNP:rs56186751,PMID:19085912 |
| Q9NQ11 | 514 | 583 | 481 | 932 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 804 | 843 | 805 | 843 | Alternative sequence | ID=VSP_007311;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.8;Dbxref=PMID:15489334 |
| Q9NQ11 | 804 | 843 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 804 | 843 | 481 | 932 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q9NQ11 | 302 | 346 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 302 | 346 | 322 | 322 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ11 | 302 | 346 | 277 | 425 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 398 | 435 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 398 | 435 | 277 | 425 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 398 | 435 | 426 | 445 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 451 | 514 | 513 | 513 | Active site | Note=4-aspartylphosphate intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NQ11 | 451 | 514 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 451 | 514 | 513 | 513 | Mutagenesis | Note=Loss of ATPase function. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28137957;Dbxref=PMID:28137957 |
| Q9NQ11 | 451 | 514 | 504 | 504 | Natural variant | ID=VAR_058455;Note=In KRS%3B decreased protein stability%3B increased degradation by proteasome%3B novel location to endoplasmic reticulum%3B loss of lysosomal membrane location. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17485 |
| Q9NQ11 | 451 | 514 | 446 | 459 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 451 | 514 | 481 | 932 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 451 | 514 | 460 | 480 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 514 | 583 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 514 | 583 | 517 | 517 | Natural variant | ID=VAR_078055;Note=In SPG78%3B no effect on protein stability%3B loss of autophosphorylation%3B loss of lysosomal location. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28137957;Dbxref=dbSNP:rs1057519291,PMID:28137957 |
| Q9NQ11 | 514 | 583 | 522 | 522 | Natural variant | ID=VAR_078056;Note=In KRS%3B unknown pathological significance. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22296644;Dbxref=PMID:22296644 |
| Q9NQ11 | 514 | 583 | 533 | 533 | Natural variant | ID=VAR_058456;Note=In a patient with early onset Parkinson disease and KRS%3B decreased ATPase activity%3B no effect on autophosphorylation%3B no effect on stability%3B no effect on location. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence |
| Q9NQ11 | 514 | 583 | 578 | 578 | Natural variant | ID=VAR_058457;Note=V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19085912;Dbxref=dbSNP:rs56186751,PMID:19085912 |
| Q9NQ11 | 514 | 583 | 481 | 932 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NQ11 | 804 | 843 | 805 | 843 | Alternative sequence | ID=VSP_007311;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.8;Dbxref=PMID:15489334 |
| Q9NQ11 | 804 | 843 | 1 | 1180 | Chain | ID=PRO_0000046423;Note=Cation-transporting ATPase 13A2 |
| Q9NQ11 | 804 | 843 | 481 | 932 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ATP13A2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_22146 | 17312958 | 17313127 | 17312987 | 17312987 | Frame_Shift_Del | G | - | p.L1121fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22146 | 17312958 | 17313127 | 17312998 | 17312998 | Frame_Shift_Del | C | - | p.G1117fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22146 | 17312958 | 17313127 | 17312998 | 17312998 | Frame_Shift_Del | C | - | p.G1122fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22146 | 17312958 | 17313127 | 17313051 | 17313051 | Frame_Shift_Del | C | - | p.G1099fs |
| BLCA | TCGA-XF-AAMF-01 | exon_skip_22160 | 17320124 | 17320330 | 17320157 | 17320157 | Frame_Shift_Del | G | - | p.P567fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22160 | 17320124 | 17320330 | 17320157 | 17320157 | Frame_Shift_Del | G | - | p.P567fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22160 | 17320124 | 17320330 | 17320291 | 17320291 | Frame_Shift_Del | C | - | p.V524fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_22163 | 17322471 | 17322659 | 17322499 | 17322499 | Frame_Shift_Del | C | - | p.G500fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22163 | 17322471 | 17322659 | 17322499 | 17322499 | Frame_Shift_Del | C | - | p.G500fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_22163 | 17322471 | 17322659 | 17322499 | 17322499 | Frame_Shift_Del | C | - | p.G505fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_22168 | 17326506 | 17326637 | 17326581 | 17326581 | Frame_Shift_Del | G | - | p.Q317fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22171 exon_skip_22173 | 17328529 | 17328598 | 17328546 | 17328546 | Frame_Shift_Del | G | - | p.Q225fs |
| BRCA | TCGA-E2-A14W-01 | exon_skip_22150 | 17316382 | 17316498 | 17316489 | 17316489 | Nonsense_Mutation | G | A | p.Q808* |
| SKCM | TCGA-EE-A2GE-06 | exon_skip_22163 | 17322471 | 17322659 | 17322554 | 17322554 | Nonsense_Mutation | G | A | p.R482* |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_22163 | 17322471 | 17322659 | 17322647 | 17322647 | Nonsense_Mutation | C | A | p.E451* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17322471 | 17322659 | 17322499 | 17322499 | Frame_Shift_Del | C | - | p.G505fs |
| LIM1215_LARGE_INTESTINE | 17322471 | 17322659 | 17322499 | 17322499 | Frame_Shift_Del | C | - | p.G505fs |
| HEC6_ENDOMETRIUM | 17312958 | 17313127 | 17313065 | 17313065 | Missense_Mutation | C | T | p.G1100S |
| TC71_BONE | 17316186 | 17316265 | 17316213 | 17316213 | Missense_Mutation | T | C | p.E861G |
| SNU398_LIVER | 17318504 | 17318624 | 17318578 | 17318579 | Missense_Mutation | GC | AG | p.G684A |
| FTC238_THYROID | 17320124 | 17320330 | 17320141 | 17320141 | Missense_Mutation | C | T | p.V578M |
| SNU1040_LARGE_INTESTINE | 17320124 | 17320330 | 17320203 | 17320203 | Missense_Mutation | G | A | p.T557I |
| STS0421_SOFT_TISSUE | 17320124 | 17320330 | 17320215 | 17320215 | Missense_Mutation | C | T | p.R553Q |
| LOVO_LARGE_INTESTINE | 17320124 | 17320330 | 17320215 | 17320215 | Missense_Mutation | C | T | p.R553Q |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17320124 | 17320330 | 17320251 | 17320251 | Missense_Mutation | G | A | p.P541L |
| SNU182_LIVER | 17320124 | 17320330 | 17320293 | 17320293 | Missense_Mutation | C | A | p.G527V |
| NCIH446_LUNG | 17320124 | 17320330 | 17320300 | 17320300 | Missense_Mutation | C | A | p.V525L |
| NCIH2110_LUNG | 17320124 | 17320330 | 17320312 | 17320312 | Missense_Mutation | C | T | p.D521N |
| KM12_LARGE_INTESTINE | 17320124 | 17320330 | 17320327 | 17320327 | Missense_Mutation | C | T | p.G516S |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17322471 | 17322659 | 17322593 | 17322593 | Missense_Mutation | G | A | p.P474S |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17322881 | 17322991 | 17322907 | 17322907 | Missense_Mutation | T | G | p.K427T |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17322881 | 17322973 | 17322907 | 17322907 | Missense_Mutation | T | G | p.K427T |
| JHUEM7_ENDOMETRIUM | 17322881 | 17322991 | 17322924 | 17322924 | Missense_Mutation | G | T | p.F421L |
| JHUEM7_ENDOMETRIUM | 17322881 | 17322973 | 17322924 | 17322924 | Missense_Mutation | G | T | p.F421L |
| SNU175_LARGE_INTESTINE | 17322881 | 17322991 | 17322980 | 17322980 | Missense_Mutation | C | T | p.A403T |
| RKO_LARGE_INTESTINE | 17326506 | 17326637 | 17326527 | 17326527 | Missense_Mutation | C | G | p.V340L |
| CW2_LARGE_INTESTINE | 17326506 | 17326637 | 17326527 | 17326527 | Missense_Mutation | C | A | p.V340L |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17326506 | 17326637 | 17326536 | 17326536 | Missense_Mutation | C | T | p.E337K |
| SNGM_ENDOMETRIUM | 17326506 | 17326637 | 17326579 | 17326579 | Missense_Mutation | C | A | p.Q322H |
| HEC151_ENDOMETRIUM | 17326506 | 17326637 | 17326631 | 17326631 | Missense_Mutation | T | G | p.E305A |
| RERFLCAD2_LUNG | 17328529 | 17328598 | 17328585 | 17328585 | Missense_Mutation | C | A | p.G217C |
| NCIH1385_LUNG | 17316186 | 17316265 | 17316226 | 17316226 | Nonsense_Mutation | C | A | p.E857* |
| SNU840_OVARY | 17326506 | 17326637 | 17326506 | 17326508 | Splice_Site | CTG | - | p.346_347TG>R |
| SNU175_LARGE_INTESTINE | 17326506 | 17326637 | 17326636 | 17326636 | Splice_Site | C | A | p.E303D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP13A2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP13A2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP13A2 |
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RelatedDrugs for ATP13A2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ATP13A2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ATP13A2 | C1847640 | KUFOR-RAKEB SYNDROME | 8 | CTD_human;ORPHANET;UNIPROT |
| ATP13A2 | C0027877 | Neuronal Ceroid-Lipofuscinoses | 2 | CTD_human |
| ATP13A2 | C0030567 | Parkinson Disease | 2 | CTD_human |
| ATP13A2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| ATP13A2 | C0030569 | Secondary Parkinson Disease | 1 | CTD_human |
| ATP13A2 | C0677050 | Manganese Poisoning | 1 | CTD_human |
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