ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for WNK1

Gene summary

Gene information	Gene symbol	WNK1
	Gene ID	65125
	Gene name	WNK lysine deficient protein kinase 1
	Synonyms	HSAN2\|HSN2\|KDP\|PPP1R167\|PRKWNK1\|PSK\|p65
	Cytomap	12p13.33
	Type of gene	protein-coding
	Description	serine/threonine-protein kinase WNK1WNK lysine deficient protein kinase 1 isoformerythrocyte 65 kDa proteinprostate-derived sterile 20-like kinaseprotein kinase with no lysine 1protein phosphatase 1, regulatory subunit 167serine/threonine-protein ki
	Modification date	20180523
	UniProtAcc	Q9H4A3
	Context	PubMed: WNK1 [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
WNK1	GO:0006468	protein phosphorylation	10660600
WNK1	GO:0010923	negative regulation of phosphatase activity	19389623
WNK1	GO:0023016	signal transduction by trans-phosphorylation	16669787
WNK1	GO:0035556	intracellular signal transduction	10660600

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Exon skipping events across known transcript of Ensembl for WNK1 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 WNK1

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 WNK1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_78880	12	862731:863490:922807:922980:936207:936428	922807:922980	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000447667.2
exon_skip_78881	12	966326:966415:968410:968630:970178:970301	968410:968630	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2,ENST00000540360.1,ENST00000535572.1
exon_skip_78883	12	971248:971436:974275:974530:977031:978270	974275:974530	ENSG00000060237.12	ENST00000530271.2
exon_skip_78884	12	971400:971436:977031:978270:980430:980514	977031:978270	ENSG00000060237.12	ENST00000537687.1
exon_skip_78887	12	971400:971436:980430:980514:987377:987478	980430:980514	ENSG00000060237.12	ENST00000315939.6,ENST00000340908.4,ENST00000545285.1
exon_skip_78888	12	971400:971436:980430:980514:987380:987527	980430:980514	ENSG00000060237.12	ENST00000535572.1
exon_skip_78891	12	977733:978270:980430:980514:987377:987478	980430:980514	ENSG00000060237.12	ENST00000537687.1,ENST00000530271.2,ENST00000574679.1
exon_skip_78894	12	987437:987527:988738:989197:989886:989980	988738:989197	ENSG00000060237.12	ENST00000315939.6,ENST00000340908.4,ENST00000530271.2,ENST00000535698.1
exon_skip_78899	12	987437:987527:989886:990165:990857:990955	989886:990165	ENSG00000060237.12	ENST00000537687.1
exon_skip_78902	12	988738:989197:989886:990165:990857:990955	989886:990165	ENSG00000060237.12	ENST00000315939.6,ENST00000340908.4,ENST00000530271.2
exon_skip_78903	12	991099:991239:992108:992225:992560:992585	992108:992225	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2,ENST00000545055.1,ENST00000535572.1
exon_skip_78904	12	992560:992734:992939:992997:993286:993409	992939:992997	ENSG00000060237.12	ENST00000315939.6,ENST00000534872.1,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2,ENST00000535572.1
exon_skip_78907	12	996386:996470:998305:998389:999618:999676	998305:998389	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2,ENST00000535572.1
exon_skip_78909	12	998305:998389:999618:999676:1003727:1003801	999618:999676	ENSG00000060237.12	ENST00000535572.1
exon_skip_78910	12	998305:998389:999618:999679:1003727:1003801	999618:999679	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2
exon_skip_78912	12	999618:999679:1003727:1003801:1005236:1005898	1003727:1003801	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2
exon_skip_78914	12	1006763:1006847:1009641:1009836:1017012:1017122	1009641:1009836	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2,ENST00000535572.1
exon_skip_78918	12	1009763:1009836:1010726:1010819:1013618:1013653	1010726:1010819	ENSG00000060237.12	ENST00000543065.1
exon_skip_78920	12	1009763:1009836:1013618:1013660:1017012:1017122	1013618:1013660	ENSG00000060237.12	ENST00000544559.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for WNK1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_78880	12	862731:863490:922807:922980:936207:936428	922807:922980	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000447667.2,ENST00000530271.2
exon_skip_78881	12	966326:966415:968410:968630:970178:970301	968410:968630	ENSG00000060237.12	ENST00000535572.1,ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000540360.1,ENST00000340908.4
exon_skip_78883	12	971248:971436:974275:974530:977031:978270	974275:974530	ENSG00000060237.12	ENST00000530271.2
exon_skip_78884	12	971400:971436:977031:978270:980430:980514	977031:978270	ENSG00000060237.12	ENST00000537687.1
exon_skip_78887	12	971400:971436:980430:980514:987377:987478	980430:980514	ENSG00000060237.12	ENST00000315939.6,ENST00000340908.4,ENST00000545285.1
exon_skip_78888	12	971400:971436:980430:980514:987380:987527	980430:980514	ENSG00000060237.12	ENST00000535572.1
exon_skip_78891	12	977733:978270:980430:980514:987377:987478	980430:980514	ENSG00000060237.12	ENST00000537687.1,ENST00000530271.2,ENST00000574679.1
exon_skip_78894	12	987437:987527:988738:989197:989886:989980	988738:989197	ENSG00000060237.12	ENST00000315939.6,ENST00000530271.2,ENST00000340908.4,ENST00000535698.1
exon_skip_78899	12	987437:987527:989886:990165:990857:990955	989886:990165	ENSG00000060237.12	ENST00000537687.1
exon_skip_78902	12	988738:989197:989886:990165:990857:990955	989886:990165	ENSG00000060237.12	ENST00000315939.6,ENST00000530271.2,ENST00000340908.4
exon_skip_78903	12	991099:991239:992108:992225:992560:992585	992108:992225	ENSG00000060237.12	ENST00000535572.1,ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000340908.4,ENST00000545055.1
exon_skip_78904	12	992560:992734:992939:992997:993286:993409	992939:992997	ENSG00000060237.12	ENST00000535572.1,ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000340908.4,ENST00000534872.1
exon_skip_78907	12	996386:996470:998305:998389:999618:999676	998305:998389	ENSG00000060237.12	ENST00000535572.1,ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000340908.4
exon_skip_78909	12	998305:998389:999618:999676:1003727:1003801	999618:999676	ENSG00000060237.12	ENST00000535572.1
exon_skip_78910	12	998305:998389:999618:999679:1003727:1003801	999618:999679	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000340908.4
exon_skip_78912	12	999618:999679:1003727:1003801:1005236:1005898	1003727:1003801	ENSG00000060237.12	ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000340908.4
exon_skip_78914	12	1006763:1006847:1009641:1009836:1017012:1017122	1009641:1009836	ENSG00000060237.12	ENST00000535572.1,ENST00000315939.6,ENST00000537687.1,ENST00000530271.2,ENST00000340908.4
exon_skip_78918	12	1009763:1009836:1010726:1010819:1013618:1013653	1010726:1010819	ENSG00000060237.12	ENST00000543065.1
exon_skip_78920	12	1009763:1009836:1013618:1013660:1017012:1017122	1013618:1013660	ENSG00000060237.12	ENST00000544559.1

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 WNK1

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
ENST00000315939	922807	922980	Frame-shift
ENST00000315939	968410	968630	Frame-shift
ENST00000315939	992939	992997	Frame-shift
ENST00000315939	999618	999679	Frame-shift
ENST00000315939	1003727	1003801	Frame-shift
ENST00000315939	980430	980514	In-frame
ENST00000315939	988738	989197	In-frame
ENST00000315939	989886	990165	In-frame
ENST00000315939	992108	992225	In-frame
ENST00000315939	998305	998389	In-frame
ENST00000315939	1009641	1009836	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
ENST00000315939	922807	922980	Frame-shift
ENST00000315939	968410	968630	Frame-shift
ENST00000315939	992939	992997	Frame-shift
ENST00000315939	999618	999679	Frame-shift
ENST00000315939	1003727	1003801	Frame-shift
ENST00000315939	980430	980514	In-frame
ENST00000315939	988738	989197	In-frame
ENST00000315939	989886	990165	In-frame
ENST00000315939	992108	992225	In-frame
ENST00000315939	998305	998389	In-frame
ENST00000315939	1009641	1009836	In-frame

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Infer the effects of exon skipping event on protein functional features for WNK1

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
ENST00000315939	10469	2382	980430	980514	2783	2866	713	741
ENST00000315939	10469	2382	988738	989197	3017	3475	791	944
ENST00000315939	10469	2382	989886	990165	3476	3754	944	1037
ENST00000315939	10469	2382	992108	992225	4016	4132	1124	1163
ENST00000315939	10469	2382	998305	998389	6008	6091	1788	1816
ENST00000315939	10469	2382	1009641	1009836	7092	7286	2149	2214

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
ENST00000315939	10469	2382	980430	980514	2783	2866	713	741
ENST00000315939	10469	2382	988738	989197	3017	3475	791	944
ENST00000315939	10469	2382	989886	990165	3476	3754	944	1037
ENST00000315939	10469	2382	992108	992225	4016	4132	1124	1163
ENST00000315939	10469	2382	998305	998389	6008	6091	1788	1816
ENST00000315939	10469	2382	1009641	1009836	7092	7286	2149	2214

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

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

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SNVs in the skipped exons for WNK1

- 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.

WNK1_HNSC_exon_skip_78884_psi_boxplot.png
boxplot

WNK1_LUAD_exon_skip_78884_psi_boxplot.png
boxplot

WNK1_LUAD_exon_skip_78894_psi_boxplot.png
boxplot

WNK1_STAD_exon_skip_78894_psi_boxplot.png
boxplot

- 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_78912	1003728	1003801	1003779	1003779	Frame_Shift_Del	T	-	p.V2114fs
LIHC	TCGA-DD-A3A0-01	exon_skip_78914	1009642	1009836	1009679	1009679	Frame_Shift_Del	C	-	p.H2422fs
COAD	TCGA-A6-6650-01	exon_skip_78880	922808	922980	922896	922899	Frame_Shift_Del	TTTA	-	p.283_284del
LIHC	TCGA-DD-A39Y-01	exon_skip_78884	977032	978270	977604	977604	Frame_Shift_Del	G	-	p.Q904fs
HNSC	TCGA-CV-5430-01	exon_skip_78884	977032	978270	977668	977669	Frame_Shift_Del	CT	-	p.L926fs
STAD	TCGA-CG-5723-01	exon_skip_78894	988739	989197	989023	989023	Frame_Shift_Del	G	-	p.P886fs
LUAD	TCGA-97-8552-01	exon_skip_78894	988739	989197	989062	989063	Frame_Shift_Del	TC	-	p.LL899fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_78902 exon_skip_78899	989887	990165	989892	989892	Frame_Shift_Del	C	-	p.F1206fs
LIHC	TCGA-DD-A39Y-01	exon_skip_78902 exon_skip_78899	989887	990165	990120	990120	Frame_Shift_Del	T	-	p.S1282fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_78902 exon_skip_78899	989887	990165	990131	990131	Frame_Shift_Del	C	-	p.A1286fs
LIHC	TCGA-BC-A112-01	exon_skip_78881	968411	968630	968496	968497	Frame_Shift_Ins	-	A	p.K496fs
LIHC	TCGA-DD-A1EC-01	exon_skip_78883	974276	974530	974308	974309	Frame_Shift_Ins	-	C	p.H725fs
STAD	TCGA-KB-A93J-01	exon_skip_78894	988739	989197	988923	988924	Frame_Shift_Ins	-	AG	p.S853fs
STAD	TCGA-KB-A93J-01	exon_skip_78894	988739	989197	988923	988924	Frame_Shift_Ins	-	AG	p.T853fs
BLCA	TCGA-GC-A6I1-01	exon_skip_78880	922808	922980	922874	922874	Nonsense_Mutation	C	T	p.Q276*
LUAD	TCGA-69-7980-01	exon_skip_78884	977032	978270	977998	977998	Nonsense_Mutation	G	T	p.E1036*
BLCA	TCGA-ZF-AA4W-01	exon_skip_78884	977032	978270	978034	978034	Nonsense_Mutation	G	T	p.E1048*
LUAD	TCGA-17-Z057-01	exon_skip_78888 exon_skip_78887 exon_skip_78891	980431	980514	980452	980452	Nonsense_Mutation	C	T	p.Q1134*
LGG	TCGA-TQ-A8XE-02	exon_skip_78888 exon_skip_78887 exon_skip_78891	980431	980514	980512	980512	Nonsense_Mutation	C	T	p.Q1154*
COAD	TCGA-F4-6703-01	exon_skip_78903	992109	992225	992127	992127	Nonsense_Mutation	C	T	p.R1391X

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-97-8552-01
	Cancer type: LUAD
	ESID: exon_skip_78894
	Skipped exon start: 988739
	Skipped exon end: 989197
	Mutation start: 989062
	Mutation end: 989063
	Mutation type: Frame_Shift_Del
	Reference seq: TC
	Mutation seq: -
	AAchange: p.LL899fs
exon_skip_78894_LUAD_TCGA-97-8552-01.png
	Sample: TCGA-KB-A93J-01
	Cancer type: STAD
	ESID: exon_skip_78894
	Skipped exon start: 988739
	Skipped exon end: 989197
	Mutation start: 988923
	Mutation end: 988924
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: AG
	AAchange: p.T853fs
	Sample: TCGA-KB-A93J-01
	Cancer type: STAD
	ESID: exon_skip_78894
	Skipped exon start: 988739
	Skipped exon end: 989197
	Mutation start: 988923
	Mutation end: 988924
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: AG
	AAchange: p.S853fs
exon_skip_286384_STAD_TCGA-KB-A93J-01.png
exon_skip_78894_STAD_TCGA-KB-A93J-01.png
exon_skip_97667_STAD_TCGA-KB-A93J-01.png
	Sample: TCGA-CG-5723-01
	Cancer type: STAD
	ESID: exon_skip_78894
	Skipped exon start: 988739
	Skipped exon end: 989197
	Mutation start: 989023
	Mutation end: 989023
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P886fs
exon_skip_101055_STAD_TCGA-CG-5723-01.png
exon_skip_135181_STAD_TCGA-CG-5723-01.png
exon_skip_143805_STAD_TCGA-CG-5723-01.png
exon_skip_287270_STAD_TCGA-CG-5723-01.png
exon_skip_325884_STAD_TCGA-CG-5723-01.png
exon_skip_352908_STAD_TCGA-CG-5723-01.png
exon_skip_353222_STAD_TCGA-CG-5723-01.png
exon_skip_356108_STAD_TCGA-CG-5723-01.png
exon_skip_381180_STAD_TCGA-CG-5723-01.png
exon_skip_42584_STAD_TCGA-CG-5723-01.png
exon_skip_447822_STAD_TCGA-CG-5723-01.png
exon_skip_53674_STAD_TCGA-CG-5723-01.png
exon_skip_60290_STAD_TCGA-CG-5723-01.png
exon_skip_60294_STAD_TCGA-CG-5723-01.png
exon_skip_71774_STAD_TCGA-CG-5723-01.png
exon_skip_78894_STAD_TCGA-CG-5723-01.png
exon_skip_84515_STAD_TCGA-CG-5723-01.png
exon_skip_92488_STAD_TCGA-CG-5723-01.png
	Sample: TCGA-TQ-A8XE-02
	Cancer type: LGG
	ESID: exon_skip_78891
	Skipped exon start: 980431
	Skipped exon end: 980514
	Mutation start: 980512
	Mutation end: 980512
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q1154*
exon_skip_78887_LGG_TCGA-TQ-A8XE-02.png
exon_skip_78888_LGG_TCGA-TQ-A8XE-02.png
	Sample: TCGA-TQ-A8XE-02
	Cancer type: LGG
	ESID: exon_skip_78891
	Skipped exon start: 980431
	Skipped exon end: 980514
	Mutation start: 980512
	Mutation end: 980512
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.Q1154*
exon_skip_78887_LGG_TCGA-TQ-A8XE-02.png
exon_skip_78888_LGG_TCGA-TQ-A8XE-02.png
	Sample: TCGA-69-7980-01
	Cancer type: LUAD
	ESID: exon_skip_78884
	Skipped exon start: 977032
	Skipped exon end: 978270
	Mutation start: 977998
	Mutation end: 977998
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E1036*
exon_skip_13473_LUAD_TCGA-69-7980-01.png
exon_skip_139222_LUAD_TCGA-69-7980-01.png
exon_skip_27378_LUAD_TCGA-69-7980-01.png
exon_skip_370335_LUAD_TCGA-69-7980-01.png
exon_skip_78884_LUAD_TCGA-69-7980-01.png
exon_skip_93613_LUAD_TCGA-69-7980-01.png
	Sample: TCGA-CV-5430-01
	Cancer type: HNSC
	ESID: exon_skip_78884
	Skipped exon start: 977032
	Skipped exon end: 978270
	Mutation start: 977668
	Mutation end: 977669
	Mutation type: Frame_Shift_Del
	Reference seq: CT
	Mutation seq: -
	AAchange: p.L926fs
exon_skip_286384_HNSC_TCGA-CV-5430-01.png
exon_skip_492891_HNSC_TCGA-CV-5430-01.png
exon_skip_78884_HNSC_TCGA-CV-5430-01.png

- 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
MFE319_ENDOMETRIUM	988739	989197	989023	989023	Frame_Shift_Del	G	-	p.P886fs
BICR18_UPPER_AERODIGESTIVE_TRACT	989887	990165	989990	989991	Frame_Shift_Ins	-	TT	p.M980fs
BICR18_UPPER_AERODIGESTIVE_TRACT	989887	990165	990123	990124	Frame_Shift_Ins	-	AC	p.A1024fs
BICR18_UPPER_AERODIGESTIVE_TRACT	989887	990165	990125	990126	Frame_Shift_Ins	-	A	p.Q1025fs
BICR18_UPPER_AERODIGESTIVE_TRACT	988739	989197	989112	989113	In_Frame_Ins	-	GCC	p.917_918insP
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	989887	990165	989989	989990	In_Frame_Ins	-	CTT	p.979_980insS
JHOS4_OVARY	1009642	1009836	1009716	1009716	Missense_Mutation	G	C	p.E2175Q
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1009642	1009836	1009739	1009739	Missense_Mutation	A	T	p.L2182F
SNB75_CENTRAL_NERVOUS_SYSTEM	1009642	1009836	1009744	1009744	Missense_Mutation	C	T	p.P2184L
HCT15_LARGE_INTESTINE	1009642	1009836	1009764	1009764	Missense_Mutation	A	G	p.S2191G
SNU81_LARGE_INTESTINE	922808	922980	922922	922922	Missense_Mutation	A	C	p.K292Q
RERFLCFM_LUNG	968411	968630	968604	968604	Missense_Mutation	G	C	p.V532L
EW12_BONE	988739	989197	988790	988790	Missense_Mutation	G	T	p.V809F
HEC251_ENDOMETRIUM	988739	989197	988835	988835	Missense_Mutation	T	G	p.F824V
LS411N_LARGE_INTESTINE	988739	989197	988837	988837	Missense_Mutation	C	A	p.F824L
AN3CA_ENDOMETRIUM	988739	989197	988878	988878	Missense_Mutation	A	G	p.Q838R
LS411N_LARGE_INTESTINE	988739	989197	988884	988884	Missense_Mutation	C	A	p.P840H
SNU1040_LARGE_INTESTINE	988739	989197	988968	988968	Missense_Mutation	G	A	p.G868D
LOVO_LARGE_INTESTINE	988739	989197	988989	988989	Missense_Mutation	C	T	p.T875M
EKVX_LUNG	988739	989197	988993	988993	Missense_Mutation	G	C	p.L876F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	988739	989197	989069	989069	Missense_Mutation	C	T	p.P902S
CCK81_LARGE_INTESTINE	989887	990165	989890	989890	Missense_Mutation	T	C	p.F946L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	989887	990165	989896	989896	Missense_Mutation	C	T	p.P948S
BICR18_UPPER_AERODIGESTIVE_TRACT	989887	990165	989896	989896	Missense_Mutation	C	T	p.P948S
EWS502_BONE	989887	990165	989921	989921	Missense_Mutation	G	A	p.G956E
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	989887	990165	990089	990089	Missense_Mutation	G	T	p.G1012V
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	992940	992997	992945	992945	Missense_Mutation	G	C	p.L1223F
HCC1395_BREAST	998306	998389	998336	998336	Missense_Mutation	C	G	p.Q1799E
HCC95_LUNG	998306	998389	998351	998351	Missense_Mutation	C	G	p.L1804V
SW780_URINARY_TRACT	980431	980514	980513	980513	Splice_Site	A	G	p.Q741R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WNK1

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_78907	12	996386:996470:998305:998389:999618:999676	998305:998389	ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000530271.2,ENST00000535572.1	LGG	rs12828016	chr12:998365	G/T	6.60e-06
exon_skip_78894	12	987437:987527:988738:989197:989886:989980	988738:989197	ENST00000315939.6,ENST00000340908.4,ENST00000530271.2,ENST00000535698.1	BRCA	rs9804992	chr12:988894	A/G	5.57e-03
exon_skip_78894	12	987437:987527:988738:989197:989886:989980	988738:989197	ENST00000315939.6,ENST00000340908.4,ENST00000530271.2,ENST00000535698.1	STAD	rs9804992	chr12:988894	A/G	1.70e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WNK1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WNK1

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RelatedDrugs for WNK1

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 WNK1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
WNK1	C0020538	Hypertensive disease	1	CTD_human
WNK1	C0022658	Kidney Diseases	1	CTD_human
WNK1	C0033805	Pseudohypoaldosteronism	1	CTD_human

	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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