ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ATP13A4

Gene summary

Gene information	Gene symbol	ATP13A4
	Gene ID	84239
	Gene name	ATPase 13A4
	Synonyms	-
	Cytomap	3q29
	Type of gene	protein-coding
	Description	probable cation-transporting ATPase 13A4ATPase type 13A4P5-ATPasecation-transporting P5-ATPase
	Modification date	20180523
	UniProtAcc	Q4VNC1
	Context	PubMed: ATP13A4 [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

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Exon skipping events across known transcript of Ensembl for ATP13A4 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 ATP13A4

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for ATP13A4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_390892	3	193120288:193120653:193121812:193121955:193125101:193125182	193121812:193121955	ENSG00000127249.10	ENST00000482964.1
exon_skip_390895	3	193120288:193120653:193125101:193125182:193128770:193128859	193125101:193125182	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000400270.2,ENST00000450950.2,ENST00000392443.3
exon_skip_390897	3	193125101:193125182:193128770:193128859:193129966:193130160	193128770:193128859	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000400270.2,ENST00000450950.2,ENST00000392443.3,ENST00000482964.1
exon_skip_390905	3	193129966:193130160:193132367:193132539:193151633:193151706	193132367:193132539	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000450950.2,ENST00000392443.3
exon_skip_390910	3	193151648:193151706:193153436:193153533:193156811:193156854	193153436:193153533	ENSG00000127249.10	ENST00000474776.1
exon_skip_390912	3	193153464:193153533:193156263:193156373:193156811:193156843	193156263:193156373	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000450950.2,ENST00000392443.3
exon_skip_390919	3	193156282:193156373:193156811:193156854:193158346:193158426	193156811:193156854	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000450950.2,ENST00000392443.3
exon_skip_390926	3	193174788:193174942:193175167:193175254:193176869:193177020	193175167:193175254	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000490925.1,ENST00000450950.2,ENST00000392443.3
exon_skip_390929	3	193176869:193177020:193180550:193180612:193182728:193182917	193180550:193180612	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000295548.3,ENST00000490925.1,ENST00000450950.2,ENST00000392443.3
exon_skip_390930	3	193180550:193180612:193182728:193182917:193183813:193183971	193182728:193182917	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000295548.3,ENST00000490925.1,ENST00000450950.2
exon_skip_390931	3	193182728:193182917:193183813:193183971:193185104:193185137	193183813:193183971	ENSG00000127249.10	ENST00000428352.1,ENST00000342695.4,ENST00000295548.3,ENST00000490925.1,ENST00000450950.2
exon_skip_390932	3	193182728:193182917:193183870:193183971:193185104:193185137	193183870:193183971	ENSG00000127249.10	ENST00000392443.3
exon_skip_390937	3	193209117:193209187:193210705:193210786:193210878:193210949	193210705:193210786	ENSG00000127249.10	ENST00000342695.4,ENST00000295548.3,ENST00000490925.1,ENST00000392443.3
exon_skip_390938	3	193210878:193210949:193220281:193220328:193232486:193232660	193220281:193220328	ENSG00000127249.10	ENST00000450950.2
exon_skip_390939	3	193210878:193210949:193220281:193220428:193232486:193232660	193220281:193220428	ENSG00000127249.10	ENST00000342695.4,ENST00000295548.3,ENST00000490925.1,ENST00000392443.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ATP13A4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_390892	3	193120288:193120653:193121812:193121955:193125101:193125182	193121812:193121955	ENSG00000127249.10	ENST00000482964.1
exon_skip_390895	3	193120288:193120653:193125101:193125182:193128770:193128859	193125101:193125182	ENSG00000127249.10	ENST00000400270.2,ENST00000428352.1,ENST00000450950.2,ENST00000392443.3,ENST00000342695.4
exon_skip_390897	3	193125101:193125182:193128770:193128859:193129966:193130160	193128770:193128859	ENSG00000127249.10	ENST00000400270.2,ENST00000428352.1,ENST00000450950.2,ENST00000392443.3,ENST00000342695.4,ENST00000482964.1
exon_skip_390905	3	193129966:193130160:193132367:193132539:193151633:193151706	193132367:193132539	ENSG00000127249.10	ENST00000428352.1,ENST00000450950.2,ENST00000392443.3,ENST00000342695.4
exon_skip_390910	3	193151648:193151706:193153436:193153533:193156811:193156854	193153436:193153533	ENSG00000127249.10	ENST00000474776.1
exon_skip_390912	3	193153464:193153533:193156263:193156373:193156811:193156843	193156263:193156373	ENSG00000127249.10	ENST00000428352.1,ENST00000450950.2,ENST00000392443.3,ENST00000342695.4
exon_skip_390919	3	193156282:193156373:193156811:193156854:193158346:193158426	193156811:193156854	ENSG00000127249.10	ENST00000428352.1,ENST00000450950.2,ENST00000392443.3,ENST00000342695.4
exon_skip_390926	3	193174788:193174942:193175167:193175254:193176869:193177020	193175167:193175254	ENSG00000127249.10	ENST00000428352.1,ENST00000450950.2,ENST00000392443.3,ENST00000342695.4,ENST00000490925.1
exon_skip_390929	3	193176869:193177020:193180550:193180612:193182728:193182917	193180550:193180612	ENSG00000127249.10	ENST00000428352.1,ENST00000450950.2,ENST00000392443.3,ENST00000342695.4,ENST00000490925.1,ENST00000295548.3
exon_skip_390930	3	193180550:193180612:193182728:193182917:193183813:193183971	193182728:193182917	ENSG00000127249.10	ENST00000428352.1,ENST00000450950.2,ENST00000342695.4,ENST00000490925.1,ENST00000295548.3
exon_skip_390931	3	193182728:193182917:193183813:193183971:193185104:193185137	193183813:193183971	ENSG00000127249.10	ENST00000428352.1,ENST00000450950.2,ENST00000342695.4,ENST00000490925.1,ENST00000295548.3
exon_skip_390932	3	193182728:193182917:193183870:193183971:193185104:193185137	193183870:193183971	ENSG00000127249.10	ENST00000392443.3
exon_skip_390937	3	193209117:193209187:193210705:193210786:193210878:193210949	193210705:193210786	ENSG00000127249.10	ENST00000392443.3,ENST00000342695.4,ENST00000490925.1,ENST00000295548.3
exon_skip_390938	3	193210878:193210949:193220281:193220328:193232486:193232660	193220281:193220328	ENSG00000127249.10	ENST00000450950.2
exon_skip_390939	3	193210878:193210949:193220281:193220428:193232486:193232660	193220281:193220428	ENSG00000127249.10	ENST00000392443.3,ENST00000342695.4,ENST00000490925.1,ENST00000295548.3

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ATP13A4

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
ENST00000342695	193128770	193128859	Frame-shift
ENST00000342695	193132367	193132539	Frame-shift
ENST00000342695	193156263	193156373	Frame-shift
ENST00000342695	193156811	193156854	Frame-shift
ENST00000342695	193180550	193180612	Frame-shift
ENST00000342695	193183813	193183971	Frame-shift
ENST00000342695	193125101	193125182	In-frame
ENST00000342695	193175167	193175254	In-frame
ENST00000342695	193182728	193182917	In-frame
ENST00000342695	193210705	193210786	In-frame
ENST00000342695	193220281	193220428	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
ENST00000342695	193128770	193128859	Frame-shift
ENST00000342695	193132367	193132539	Frame-shift
ENST00000342695	193156263	193156373	Frame-shift
ENST00000342695	193156811	193156854	Frame-shift
ENST00000342695	193180550	193180612	Frame-shift
ENST00000342695	193183813	193183971	Frame-shift
ENST00000342695	193125101	193125182	In-frame
ENST00000342695	193175167	193175254	In-frame
ENST00000342695	193182728	193182917	In-frame
ENST00000342695	193210705	193210786	In-frame
ENST00000342695	193220281	193220428	In-frame

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Infer the effects of exon skipping event on protein functional features for ATP13A4

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

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
ENST00000342695	4225	1196	193220281	193220428	558	704	78	127
ENST00000342695	4225	1196	193210705	193210786	776	856	151	177
ENST00000342695	4225	1196	193182728	193182917	1596	1784	424	487
ENST00000342695	4225	1196	193175167	193175254	1998	2084	558	587
ENST00000342695	4225	1196	193125101	193125182	3621	3701	1099	1126

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
ENST00000342695	4225	1196	193220281	193220428	558	704	78	127
ENST00000342695	4225	1196	193210705	193210786	776	856	151	177
ENST00000342695	4225	1196	193182728	193182917	1596	1784	424	487
ENST00000342695	4225	1196	193175167	193175254	1998	2084	558	587
ENST00000342695	4225	1196	193125101	193125182	3621	3701	1099	1126

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
Q4VNC1	78	127	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	78	127	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	78	127	53	197	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	151	177	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	151	177	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	151	177	53	197	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	424	487	486	486	Active site	Note=4-aspartylphosphate intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q4VNC1	424	487	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	424	487	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	424	487	422	436	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	424	487	458	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	424	487	437	457	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	558	587	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	558	587	559	576	Alternative sequence	ID=VSP_031259;Note=In isoform 3. EMAFSGDDFHIKGVPAHA->VSLCSSENLRSFFNARAT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q4VNC1	558	587	577	1196	Alternative sequence	ID=VSP_031260;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q4VNC1	558	587	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	558	587	458	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	1099	1126	577	1196	Alternative sequence	ID=VSP_031260;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q4VNC1	1099	1126	841	1196	Alternative sequence	ID=VSP_031261;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q4VNC1	1099	1126	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	1099	1126	1092	1109	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	1099	1126	1110	1130	Transmembrane	Note=Helical;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
Q4VNC1	78	127	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	78	127	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	78	127	53	197	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	151	177	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	151	177	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	151	177	53	197	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	424	487	486	486	Active site	Note=4-aspartylphosphate intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q4VNC1	424	487	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	424	487	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	424	487	422	436	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	424	487	458	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	424	487	437	457	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	558	587	1	984	Alternative sequence	ID=VSP_031258;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12975309;Dbxref=PMID:12975309
Q4VNC1	558	587	559	576	Alternative sequence	ID=VSP_031259;Note=In isoform 3. EMAFSGDDFHIKGVPAHA->VSLCSSENLRSFFNARAT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q4VNC1	558	587	577	1196	Alternative sequence	ID=VSP_031260;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q4VNC1	558	587	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	558	587	458	900	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	1099	1126	577	1196	Alternative sequence	ID=VSP_031260;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q4VNC1	1099	1126	841	1196	Alternative sequence	ID=VSP_031261;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q4VNC1	1099	1126	1	1196	Chain	ID=PRO_0000318675;Note=Probable cation-transporting ATPase 13A4
Q4VNC1	1099	1126	1092	1109	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q4VNC1	1099	1126	1110	1130	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for ATP13A4

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- 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
HNSC	TCGA-CN-6021-01	exon_skip_390910	193153437	193153533	193153532	193153532	Frame_Shift_Del	C	-	p.E892fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_390929	193180551	193180612	193180594	193180594	Frame_Shift_Del	C	-	p.D494fs
LUAD	TCGA-17-Z055-01	exon_skip_390930	193182729	193182917	193182776	193182776	Frame_Shift_Del	G	-	p.Q472fs
SKCM	TCGA-W3-AA1V-06	exon_skip_390930	193182729	193182917	193182812	193182812	Frame_Shift_Del	T	-	p.R460fs
LIHC	TCGA-DD-A39Y-01	exon_skip_390931 exon_skip_390932	193183814	193183971	193183897	193183897	Frame_Shift_Del	C	-	p.D397fs
LIHC	TCGA-DD-A39Y-01	exon_skip_390931 exon_skip_390932	193183871	193183971	193183897	193183897	Frame_Shift_Del	C	-	p.D397fs
LIHC	TCGA-DD-A3A0-01	exon_skip_390931 exon_skip_390932	193183814	193183971	193183897	193183897	Frame_Shift_Del	C	-	p.D397fs
LIHC	TCGA-DD-A3A0-01	exon_skip_390931 exon_skip_390932	193183871	193183971	193183897	193183897	Frame_Shift_Del	C	-	p.D397fs
LUSC	TCGA-33-4532-01	exon_skip_390905	193132368	193132539	193132516	193132516	Nonsense_Mutation	T	A	p.K956*
LUSC	TCGA-18-3416-01	exon_skip_390931 exon_skip_390932	193183814	193183971	193183867	193183867	Nonsense_Mutation	C	A	p.G407*
SKCM	TCGA-D9-A6EA-06	exon_skip_390937	193210706	193210786	193210749	193210749	Nonsense_Mutation	G	A	p.Q164*
SKCM	TCGA-D9-A6EA-06	exon_skip_390937	193210706	193210786	193210749	193210749	Nonsense_Mutation	G	A	p.Q164X
SKCM	TCGA-D3-A8GM-06	exon_skip_390939	193220282	193220428	193220405	193220405	Nonsense_Mutation	C	T	p.W86*
LUAD	TCGA-05-4430-01	exon_skip_390905	193132368	193132539	193132540	193132540	Splice_Site	C	A	p.M948_splice
BRCA	TCGA-E9-A244-01	exon_skip_390930	193182729	193182917	193182727	193182727	Splice_Site	A	T	e12+2
BRCA	TCGA-BH-A0HA-01	exon_skip_390931 exon_skip_390932	193183871	193183971	193183869	193183869	Splice_Site	A	G	e11+2

- 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
HT115_LARGE_INTESTINE	193125102	193125182	193125107	193125107	Missense_Mutation	C	T	p.A1125T
EMCBAC2_LUNG	193125102	193125182	193125107	193125107	Missense_Mutation	C	T	p.A1125T
HEC251_ENDOMETRIUM	193128771	193128859	193128809	193128809	Missense_Mutation	G	T	p.L1087I
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	193132368	193132539	193132404	193132404	Missense_Mutation	A	C	p.V993G
MEWO_SKIN	193153437	193153533	193153470	193153470	Missense_Mutation	C	T	p.M912I
NCIH1648_LUNG	193153437	193153533	193153472	193153472	Missense_Mutation	T	C	p.M912V
HEC151_ENDOMETRIUM	193153437	193153533	193153478	193153478	Missense_Mutation	A	T	p.Y910N
CL34_LARGE_INTESTINE	193153437	193153533	193153483	193153483	Missense_Mutation	G	A	p.A908V
CAL62_THYROID	193153437	193153533	193153516	193153516	Missense_Mutation	A	C	p.L897R
SNU1040_LARGE_INTESTINE	193153437	193153533	193153525	193153525	Missense_Mutation	C	T	p.R894H
COLO792_SKIN	193156264	193156373	193156358	193156358	Missense_Mutation	G	A	p.H860Y
HTCC3_THYROID	193156812	193156854	193156820	193156820	Missense_Mutation	C	T	p.D852N
NCC021_KIDNEY	193156812	193156854	193156850	193156850	Missense_Mutation	A	T	p.F842I
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	193175168	193175254	193175211	193175211	Missense_Mutation	G	A	p.P573L
NCIH1781_LUNG	193175168	193175254	193175211	193175211	Missense_Mutation	G	A	p.P573L
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	193175168	193175254	193175245	193175245	Missense_Mutation	A	T	p.F562I
MFE280_ENDOMETRIUM	193182729	193182917	193182746	193182746	Missense_Mutation	G	A	p.L482F
RKO_LARGE_INTESTINE	193182729	193182917	193182764	193182764	Missense_Mutation	C	T	p.V476I
RKO_LARGE_INTESTINE	193182729	193182917	193182772	193182772	Missense_Mutation	C	A	p.R473M
SNU1040_LARGE_INTESTINE	193182729	193182917	193182779	193182779	Missense_Mutation	G	A	p.P471S
HCC2450_LUNG	193182729	193182917	193182801	193182801	Missense_Mutation	C	G	p.K463N
HDQP1_BREAST	193182729	193182917	193182826	193182826	Missense_Mutation	A	T	p.I455N
TGBC11TKB_STOMACH	193182729	193182917	193182857	193182857	Missense_Mutation	C	T	p.A445T
SISO_CERVIX	193183814	193183971	193183861	193183861	Missense_Mutation	C	T	p.A409T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	193183814	193183971	193183861	193183861	Missense_Mutation	C	T	p.A409T
HCC95_LUNG	193183814	193183971	193183921	193183921	Missense_Mutation	G	C	p.P389A
HCC95_LUNG	193183871	193183971	193183921	193183921	Missense_Mutation	G	C	p.P389A
RS5_FIBROBLAST	193220282	193220428	193220309	193220309	Missense_Mutation	A	C	p.N118K
RS5_FIBROBLAST	193220282	193220328	193220309	193220309	Missense_Mutation	A	C	p.N118K
NCIH2110_LUNG	193175168	193175254	193175168	193175168	Splice_Site	C	A	p.Q587H
NCIH2887_LUNG	193175168	193175254	193175169	193175169	Splice_Site	T	C	p.Q587R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP13A4

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 ATP13A4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP13A4

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RelatedDrugs for ATP13A4

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 ATP13A4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for ATP13A4

Exon skipping events across known transcript of Ensembl for ATP13A4 from UCSC genome browser

Gene isoform structures and expression levels for ATP13A4

Exon skipping events with PSIs in TCGA for ATP13A4

Exon skipping events with PSIs in GTEx for ATP13A4

Open reading frame (ORF) annotation in the exon skipping event for ATP13A4

Infer the effects of exon skipping event on protein functional features for ATP13A4

SNVs in the skipped exons for ATP13A4

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP13A4

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP13A4

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP13A4

RelatedDrugs for ATP13A4

RelatedDiseases for ATP13A4