ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ATP11A

Gene summary

Gene information	Gene symbol	ATP11A
	Gene ID	23250
	Gene name	ATPase phospholipid transporting 11A
	Synonyms	ATPIH\|ATPIS
	Cytomap	13q34
	Type of gene	protein-coding
	Description	probable phospholipid-transporting ATPase IHATPase, class VI, type 11AP4-ATPase flippase complex alpha subunit ATP11Aphospholipid-translocating ATPasepotential phospholipid-transporting ATPase IH
	Modification date	20180523
	UniProtAcc	P98196
	Context	PubMed: ATP11A [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

Top

Exon skipping events across known transcript of Ensembl for ATP11A 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.

Top

Gene isoform structures and expression levels for ATP11A

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for ATP11A

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_101430	13	113439485:113439571:113459270:113459360:113460526:113460607	113459270:113459360	ENSG00000068650.14	ENST00000466946.1,ENST00000418678.1,ENST00000459908.1,ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101434	13	113460526:113460607:113464932:113465040:113470396:113470525	113464932:113465040	ENSG00000068650.14	ENST00000418678.1,ENST00000459908.1,ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101435	13	113473617:113473721:113474213:113474264:113477658:113477723	113474213:113474264	ENSG00000068650.14	ENST00000418678.1,ENST00000459908.1,ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101438	13	113490556:113490565:113496589:113496693:113505350:113505532	113496589:113496693	ENSG00000068650.14	ENST00000418678.1,ENST00000459908.1,ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101440	13	113496622:113496693:113505350:113505532:113508592:113508844	113505350:113505532	ENSG00000068650.14	ENST00000418678.1,ENST00000459908.1,ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000471555.1,ENST00000283558.8
exon_skip_101444	13	113512131:113512234:113512458:113512604:113513706:113513766	113512458:113512604	ENSG00000068650.14	ENST00000418678.1,ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000471555.1,ENST00000283558.8
exon_skip_101445	13	113512458:113512604:113513706:113513766:113514600:113514728	113513706:113513766	ENSG00000068650.14	ENST00000418678.1,ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101448	13	113513706:113513766:113514600:113514728:113516753:113516889	113514600:113514728	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101450	13	113513706:113513766:113516753:113516889:113526048:113526114	113516753:113516889	ENSG00000068650.14	ENST00000471555.1
exon_skip_101451	13	113514600:113514728:113516753:113516889:113526048:113526114	113516753:113516889	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101452	13	113516753:113516889:113526048:113526114:113527886:113527990	113526048:113526114	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000471555.1,ENST00000283558.8
exon_skip_101458	13	113530122:113530255:113532530:113532617:113536126:113541482	113532530:113532617	ENSG00000068650.14	ENST00000487903.1
exon_skip_101460	13	113530122:113530255:113532530:113532617:113536189:113536461	113532530:113532617	ENSG00000068650.14	ENST00000375645.3,ENST00000471555.1
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENSG00000068650.14	ENST00000415301.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for ATP11A

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_101430	13	113439485:113439571:113459270:113459360:113460526:113460607	113459270:113459360	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8,ENST00000466946.1,ENST00000459908.1,ENST00000418678.1
exon_skip_101434	13	113460526:113460607:113464932:113465040:113470396:113470525	113464932:113465040	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8,ENST00000459908.1,ENST00000418678.1
exon_skip_101435	13	113473617:113473721:113474213:113474264:113477658:113477723	113474213:113474264	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8,ENST00000459908.1,ENST00000418678.1
exon_skip_101438	13	113490556:113490565:113496589:113496693:113505350:113505532	113496589:113496693	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8,ENST00000459908.1,ENST00000418678.1
exon_skip_101440	13	113496622:113496693:113505350:113505532:113508592:113508844	113505350:113505532	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8,ENST00000459908.1,ENST00000418678.1,ENST00000471555.1
exon_skip_101444	13	113512131:113512234:113512458:113512604:113513706:113513766	113512458:113512604	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8,ENST00000418678.1,ENST00000471555.1
exon_skip_101445	13	113512458:113512604:113513706:113513766:113514600:113514728	113513706:113513766	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8,ENST00000418678.1
exon_skip_101448	13	113513706:113513766:113514600:113514728:113516753:113516889	113514600:113514728	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101450	13	113513706:113513766:113516753:113516889:113526048:113526114	113516753:113516889	ENSG00000068650.14	ENST00000471555.1
exon_skip_101451	13	113514600:113514728:113516753:113516889:113526048:113526114	113516753:113516889	ENSG00000068650.14	ENST00000487903.1,ENST00000375630.2,ENST00000375645.3,ENST00000283558.8
exon_skip_101458	13	113530122:113530255:113532530:113532617:113536126:113541482	113532530:113532617	ENSG00000068650.14	ENST00000487903.1
exon_skip_101460	13	113530122:113530255:113532530:113532617:113536189:113536461	113532530:113532617	ENSG00000068650.14	ENST00000375645.3,ENST00000471555.1
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENSG00000068650.14	ENST00000415301.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for ATP11A

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
ENST00000375645	113532530	113532617	3UTR-3CDS
ENST00000487903	113532530	113532617	3UTR-3CDS
ENST00000375645	113496589	113496693	Frame-shift
ENST00000487903	113496589	113496693	Frame-shift
ENST00000375645	113505350	113505532	Frame-shift
ENST00000487903	113505350	113505532	Frame-shift
ENST00000375645	113512458	113512604	Frame-shift
ENST00000487903	113512458	113512604	Frame-shift
ENST00000375645	113514600	113514728	Frame-shift
ENST00000487903	113514600	113514728	Frame-shift
ENST00000375645	113516753	113516889	Frame-shift
ENST00000487903	113516753	113516889	Frame-shift
ENST00000375645	113459270	113459360	In-frame
ENST00000487903	113459270	113459360	In-frame
ENST00000375645	113464932	113465040	In-frame
ENST00000487903	113464932	113465040	In-frame
ENST00000375645	113474213	113474264	In-frame
ENST00000487903	113474213	113474264	In-frame
ENST00000375645	113513706	113513766	In-frame
ENST00000487903	113513706	113513766	In-frame
ENST00000375645	113526048	113526114	In-frame
ENST00000487903	113526048	113526114	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
ENST00000375645	113532530	113532617	3UTR-3CDS
ENST00000487903	113532530	113532617	3UTR-3CDS
ENST00000375645	113496589	113496693	Frame-shift
ENST00000487903	113496589	113496693	Frame-shift
ENST00000375645	113505350	113505532	Frame-shift
ENST00000487903	113505350	113505532	Frame-shift
ENST00000375645	113512458	113512604	Frame-shift
ENST00000487903	113512458	113512604	Frame-shift
ENST00000375645	113514600	113514728	Frame-shift
ENST00000487903	113514600	113514728	Frame-shift
ENST00000375645	113516753	113516889	Frame-shift
ENST00000487903	113516753	113516889	Frame-shift
ENST00000375645	113459270	113459360	In-frame
ENST00000487903	113459270	113459360	In-frame
ENST00000375645	113464932	113465040	In-frame
ENST00000487903	113464932	113465040	In-frame
ENST00000375645	113474213	113474264	In-frame
ENST00000487903	113474213	113474264	In-frame
ENST00000375645	113513706	113513766	In-frame
ENST00000487903	113513706	113513766	In-frame

Top

Infer the effects of exon skipping event on protein functional features for ATP11A

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
ENST00000375645	8812	1134	113459270	113459360	251	340	54	84
ENST00000487903	8875	1134	113459270	113459360	251	340	54	84
ENST00000375645	8812	1134	113464932	113465040	422	529	111	147
ENST00000487903	8875	1134	113464932	113465040	422	529	111	147
ENST00000375645	8812	1134	113474213	113474264	763	813	225	241
ENST00000487903	8875	1134	113474213	113474264	763	813	225	241
ENST00000375645	8812	1134	113513706	113513766	2756	2815	889	909
ENST00000487903	8875	1134	113513706	113513766	2756	2815	889	909
ENST00000375645	8812	1134	113526048	113526114	3080	3145	997	1019
ENST00000487903	8875	1134	113526048	113526114	3080	3145	997	1019

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
ENST00000375645	8812	1134	113459270	113459360	251	340	54	84
ENST00000487903	8875	1134	113459270	113459360	251	340	54	84
ENST00000375645	8812	1134	113464932	113465040	422	529	111	147
ENST00000487903	8875	1134	113464932	113465040	422	529	111	147
ENST00000375645	8812	1134	113474213	113474264	763	813	225	241
ENST00000487903	8875	1134	113474213	113474264	763	813	225	241
ENST00000375645	8812	1134	113513706	113513766	2756	2815	889	909
ENST00000487903	8875	1134	113513706	113513766	2756	2815	889	909

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
P98196	54	84	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	54	84	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	54	84	1	61	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	1	61	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	83	88	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	83	88	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	62	82	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	62	82	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	111	147	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	111	147	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	111	147	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	111	147	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	225	241	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	225	241	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	225	241	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	225	241	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	889	909	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	889	909	903	914	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	903	914	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	882	902	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	882	902	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	997	1019	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	997	1019	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	997	1019	987	1000	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	997	1019	987	1000	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	997	1019	1001	1023	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	997	1019	1001	1023	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
P98196	54	84	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	54	84	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	54	84	1	61	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	1	61	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	83	88	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	83	88	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	62	82	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	54	84	62	82	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	111	147	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	111	147	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	111	147	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	111	147	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	225	241	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	225	241	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	225	241	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	225	241	111	296	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	889	909	1	1134	Chain	ID=PRO_0000046369;Note=Probable phospholipid-transporting ATPase IH
P98196	889	909	903	914	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	903	914	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	882	902	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98196	889	909	882	902	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

Top

SNVs in the skipped exons for ATP11A

- 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
LIHC	TCGA-DD-A1EG-01	exon_skip_101438	113496590	113496693	113496633	113496633	Frame_Shift_Del	C	-	p.F583fs
LIHC	TCGA-DD-A39Y-01	exon_skip_101438	113496590	113496693	113496633	113496633	Frame_Shift_Del	C	-	p.F583fs
LIHC	TCGA-DD-A3A0-01	exon_skip_101440	113505351	113505532	113505459	113505459	Frame_Shift_Del	A	-	p.K641fs
LIHC	TCGA-DD-A39Y-01	exon_skip_101444	113512459	113512604	113512556	113512556	Frame_Shift_Del	T	-	p.H873fs
LIHC	TCGA-DD-A3A0-01	exon_skip_101450 exon_skip_101451	113516754	113516889	113516771	113516771	Frame_Shift_Del	C	-	p.A958fs
SKCM	TCGA-W3-A824-06	exon_skip_101434	113464933	113465040	113465029	113465029	Nonsense_Mutation	C	T	p.R144*
COAD	TCGA-AA-A00J-01	exon_skip_101438	113496590	113496693	113496637	113496637	Nonsense_Mutation	C	T	p.R585X
BLCA	TCGA-DK-AA77-01	exon_skip_101438	113496590	113496693	113496667	113496667	Nonsense_Mutation	C	T	p.R595*
BLCA	TCGA-S5-A6DX-01	exon_skip_101445	113513707	113513766	113513759	113513759	Nonsense_Mutation	C	G	p.S907*
LUSC	TCGA-22-5492-01	exon_skip_101430	113459271	113459360	113459361	113459361	Splice_Site	G	T	p.Q84_splice
BRCA	TCGA-A8-A09B-01	exon_skip_101434	113464933	113465040	113464932	113464932	Splice_Site	G	C	e5-1
KIRP	TCGA-A4-A6HP-01	exon_skip_101435	113474214	113474264	113474213	113474213	Splice_Site	G	A	.
KIRP	TCGA-A4-A6HP-01	exon_skip_101435	113474214	113474264	113474213	113474213	Splice_Site	G	A	p.K225_splice

- 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
JHU011_UPPER_AERODIGESTIVE_TRACT	113459271	113459360	113459286	113459286	Missense_Mutation	T	G	p.F60V
HCC2998_LARGE_INTESTINE	113459271	113459360	113459297	113459297	Missense_Mutation	G	T	p.K63N
LCLC103H_LUNG	113459271	113459360	113459318	113459318	Missense_Mutation	A	T	p.R70S
CL14_LARGE_INTESTINE	113459271	113459360	113459334	113459334	Missense_Mutation	T	A	p.Y76N
NCCSTCK140_STOMACH	113459271	113459360	113459344	113459344	Missense_Mutation	T	C	p.I79T
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113464933	113465040	113464967	113464967	Missense_Mutation	A	G	p.N123S
ABC1_LUNG	113464933	113465040	113465017	113465017	Missense_Mutation	C	G	p.R140G
SNU81_LARGE_INTESTINE	113496590	113496693	113496623	113496623	Missense_Mutation	C	A	p.S580Y
DV90_LUNG	113496590	113496693	113496629	113496629	Missense_Mutation	T	A	p.I582K
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113496590	113496693	113496686	113496686	Missense_Mutation	A	G	p.N601S
NCIH1435_LUNG	113505351	113505532	113505463	113505463	Missense_Mutation	A	C	p.K641T
SNU620_STOMACH	113512459	113512604	113512525	113512525	Missense_Mutation	A	G	p.H863R
HEC151_ENDOMETRIUM	113512459	113512604	113512584	113512584	Missense_Mutation	G	A	p.V883M
HEC1_ENDOMETRIUM	113514601	113514728	113514608	113514608	Missense_Mutation	A	G	p.Y912C
EN_ENDOMETRIUM	113516754	113516889	113516770	113516770	Missense_Mutation	G	T	p.A958S
OC316_OVARY	113516754	113516889	113516779	113516779	Missense_Mutation	C	T	p.R961C
OC314_OVARY	113516754	113516889	113516779	113516779	Missense_Mutation	C	T	p.R961C
NCIH2110_LUNG	113516754	113516889	113516830	113516830	Missense_Mutation	G	T	p.V978L
TE5_OESOPHAGUS	113516754	113516889	113516840	113516840	Missense_Mutation	T	C	p.F981S
YAPC_PANCREAS	113516754	113516889	113516840	113516840	Missense_Mutation	T	C	p.F981S
MOTN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113516754	113516889	113516840	113516840	Missense_Mutation	T	C	p.F981S
CORL95_LUNG	113516754	113516889	113516852	113516852	Missense_Mutation	T	A	p.F985Y
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113516754	113516889	113516855	113516855	Missense_Mutation	T	C	p.V986A

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP11A

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
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENST00000415301.1	ESCA	rs9577174	chr13:113534907	T/C	2.74e-09
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENST00000415301.1	KIRC	rs9577174	chr13:113534907	T/C	2.84e-25
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENST00000415301.1	KIRC	rs9577174	chr13:113534907	T/C	6.39e-10
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENST00000415301.1	LUAD	rs9577174	chr13:113534907	T/C	4.61e-24
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENST00000415301.1	STAD	rs9577174	chr13:113534907	T/C	2.00e-24
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENST00000415301.1	THCA	rs9577174	chr13:113534907	T/C	3.16e-25
exon_skip_101464	13	113530122:113530255:113534859:113534963:113536189:113536461	113534859:113534963	ENST00000415301.1	THCA	rs9577174	chr13:113534907	T/C	3.39e-05

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP11A

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP11A

Top

RelatedDrugs for ATP11A

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

Top

RelatedDiseases for ATP11A

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ATP11A	C1800706	Idiopathic Pulmonary Fibrosis	1	CTD_human;ORPHANET

	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

Home

Download

Statistics

Landscape

Help

Contact