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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for WNK2

check button Gene summary
Gene informationGene symbol

WNK2

Gene ID

65268

Gene nameWNK lysine deficient protein kinase 2
SynonymsNY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43
Cytomap

9q22.31

Type of geneprotein-coding
Descriptionserine/threonine-protein kinase WNK2antigen NY-CO-43mitogen-activated protein kinase kinase kinaseprotein kinase lysine-deficient 2protein kinase with no lysine 2serologically defined colon cancer antigen 43
Modification date20180523
UniProtAcc

Q9Y3S1

ContextPubMed: WNK2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
WNK2

GO:0006468

protein phosphorylation

21733846

WNK2

GO:0046777

protein autophosphorylation

17667937


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Exon skipping events across known transcript of Ensembl for WNK2 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for WNK2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for WNK2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_497207996002038:96002258:96009824:96010116:96015164:9601536496009824:96010116ENSG00000165238.12ENST00000448039.1,ENST00000395475.2,ENST00000411624.1,ENST00000356055.3,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497210996009824:96010116:96015164:96015364:96018580:9601873696015164:96015364ENSG00000165238.12ENST00000411624.1,ENST00000356055.3,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497211996009824:96010116:96015164:96015364:96019229:9601942196015164:96015364ENSG00000165238.12ENST00000448039.1,ENST00000395475.2
exon_skip_497216996015164:96015364:96018580:96018736:96019229:9601942196018580:96018736ENSG00000165238.12ENST00000411624.1,ENST00000356055.3,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497217996015164:96015364:96019229:96019421:96021212:9602135796019229:96019421ENSG00000165238.12ENST00000448039.1,ENST00000395475.2
exon_skip_497218996019229:96019421:96021212:96021896:96024095:9602438996021212:96021896ENSG00000165238.12ENST00000395475.2,ENST00000411624.1,ENST00000356055.3,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497219996024095:96024389:96024951:96025001:96025847:9602601696024951:96025001ENSG00000165238.12ENST00000395475.2,ENST00000411624.1,ENST00000356055.3,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497221996030908:96031028:96031121:96031232:96051069:9605176796031121:96031232ENSG00000165238.12ENST00000349097.3,ENST00000297954.4
exon_skip_497224996030908:96031028:96051069:96051902:96052259:9605232996051069:96051902ENSG00000165238.12ENST00000395475.2,ENST00000411624.1,ENST00000356055.3,ENST00000448251.1,ENST00000395477.2,ENST00000427277.2,ENST00000432730.1
exon_skip_497228996051468:96051902:96052259:96052329:96054589:9605467896052259:96052329ENSG00000165238.12ENST00000395475.2,ENST00000411624.1,ENST00000448251.1,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497235996060134:96060349:96061351:96061543:96062332:9606243196061351:96061543ENSG00000165238.12ENST00000395475.2,ENST00000448251.1,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497238996060134:96060349:96061351:96061543:96070609:9607086696061351:96061543ENSG00000165238.12ENST00000453718.1
exon_skip_497254996060134:96060349:96070609:96070866:96079801:9607991396070609:96070866ENSG00000165238.12ENST00000411624.1
exon_skip_497256996061396:96061543:96062332:96062431:96069058:9606910396062332:96062431ENSG00000165238.12ENST00000395475.2,ENST00000356055.3,ENST00000448251.1,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1
exon_skip_497277996062332:96062431:96069058:96069103:96070609:9607086696069058:96069103ENSG00000165238.12ENST00000395475.2,ENST00000356055.3,ENST00000448251.1,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000427277.2,ENST00000432730.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for WNK2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_497207996002038:96002258:96009824:96010116:96015164:9601536496009824:96010116ENSG00000165238.12ENST00000448039.1,ENST00000297954.4,ENST00000395477.2,ENST00000395475.2,ENST00000349097.3,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000411624.1
exon_skip_497210996009824:96010116:96015164:96015364:96018580:9601873696015164:96015364ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000349097.3,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000411624.1
exon_skip_497211996009824:96010116:96015164:96015364:96019229:9601942196015164:96015364ENSG00000165238.12ENST00000448039.1,ENST00000395475.2
exon_skip_497216996015164:96015364:96018580:96018736:96019229:9601942196018580:96018736ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000349097.3,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000411624.1
exon_skip_497217996015164:96015364:96019229:96019421:96021212:9602135796019229:96019421ENSG00000165238.12ENST00000448039.1,ENST00000395475.2
exon_skip_497218996019229:96019421:96021212:96021896:96024095:9602438996021212:96021896ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000395475.2,ENST00000349097.3,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000411624.1
exon_skip_497219996024095:96024389:96024951:96025001:96025847:9602601696024951:96025001ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000395475.2,ENST00000349097.3,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000411624.1
exon_skip_497221996030908:96031028:96031121:96031232:96051069:9605176796031121:96031232ENSG00000165238.12ENST00000297954.4,ENST00000349097.3
exon_skip_497224996030908:96031028:96051069:96051902:96052259:9605232996051069:96051902ENSG00000165238.12ENST00000395477.2,ENST00000395475.2,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000411624.1,ENST00000448251.1
exon_skip_497228996051468:96051902:96052259:96052329:96054589:9605467896052259:96052329ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000395475.2,ENST00000349097.3,ENST00000427277.2,ENST00000432730.1,ENST00000411624.1,ENST00000448251.1
exon_skip_497235996060134:96060349:96061351:96061543:96062332:9606243196061351:96061543ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000395475.2,ENST00000349097.3,ENST00000427277.2,ENST00000432730.1,ENST00000448251.1
exon_skip_497238996060134:96060349:96061351:96061543:96070609:9607086696061351:96061543ENSG00000165238.12ENST00000453718.1
exon_skip_497254996060134:96060349:96070609:96070866:96079801:9607991396070609:96070866ENSG00000165238.12ENST00000411624.1
exon_skip_497256996061396:96061543:96062332:96062431:96069058:9606910396062332:96062431ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000395475.2,ENST00000349097.3,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000448251.1
exon_skip_497277996062332:96062431:96069058:96069103:96070609:9607086696069058:96069103ENSG00000165238.12ENST00000297954.4,ENST00000395477.2,ENST00000395475.2,ENST00000349097.3,ENST00000427277.2,ENST00000356055.3,ENST00000432730.1,ENST00000448251.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for WNK2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002979549600982496010116Frame-shift
ENST000002979549601516496015364Frame-shift
ENST000002979549602495196025001Frame-shift
ENST000002979549605225996052329Frame-shift
ENST000002979549601858096018736In-frame
ENST000002979549602121296021896In-frame
ENST000002979549603112196031232In-frame
ENST000002979549606135196061543In-frame
ENST000002979549606233296062431In-frame
ENST000002979549606905896069103In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002979549600982496010116Frame-shift
ENST000002979549601516496015364Frame-shift
ENST000002979549602495196025001Frame-shift
ENST000002979549605225996052329Frame-shift
ENST000002979549601858096018736In-frame
ENST000002979549602121296021896In-frame
ENST000002979549603112196031232In-frame
ENST000002979549606135196061543In-frame
ENST000002979549606233296062431In-frame
ENST000002979549606905896069103In-frame

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Infer the effects of exon skipping event on protein functional features for WNK2

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

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000029795471552297960185809601873620352190678730
ENST00000297954715522979602121296021896238330667941022
ENST000002979547155229796031121960312324034414413441381
ENST000002979547155229796061351960615436035622620112075
ENST000002979547155229796062332960624316227632520752108
ENST000002979547155229796069058960691036326637021082123

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000029795471552297960185809601873620352190678730
ENST00000297954715522979602121296021896238330667941022
ENST000002979547155229796031121960312324034414413441381
ENST000002979547155229796061351960615436035622620112075
ENST000002979547155229796062332960624316227632520752108
ENST000002979547155229796069058960691036326637021082123

check button 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 featureDescription of feature
Q9Y3S1678730680731Alternative sequenceID=VSP_050640;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S167873012297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S17941022843845Alternative sequenceID=VSP_050641;Note=In isoform 3. LAA->RTR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S179410228462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S1794102212297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S17941022828828Natural variantID=VAR_057114;Note=V->M;Dbxref=dbSNP:rs10761203
Q9Y3S17941022974974Natural variantID=VAR_059773;Note=R->L;Dbxref=dbSNP:rs10114908
Q9Y3S1134413818462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S11344138113451381Alternative sequenceID=VSP_050643;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11214970;Dbxref=PMID:11214970
Q9Y3S11344138112297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S1201120758462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S12011207512297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S12011207520672067Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21733846;Dbxref=PMID:21733846
Q9Y3S1207521088462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S12075210812297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S1210821238462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S12108212312297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2


check button 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 featureDescription of feature
Q9Y3S1678730680731Alternative sequenceID=VSP_050640;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S167873012297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S17941022843845Alternative sequenceID=VSP_050641;Note=In isoform 3. LAA->RTR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S179410228462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S1794102212297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S17941022828828Natural variantID=VAR_057114;Note=V->M;Dbxref=dbSNP:rs10761203
Q9Y3S17941022974974Natural variantID=VAR_059773;Note=R->L;Dbxref=dbSNP:rs10114908
Q9Y3S1134413818462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S11344138113451381Alternative sequenceID=VSP_050643;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11214970;Dbxref=PMID:11214970
Q9Y3S11344138112297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S1201120758462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S12011207512297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S12011207520672067Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21733846;Dbxref=PMID:21733846
Q9Y3S1207521088462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S12075210812297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2
Q9Y3S1210821238462297Alternative sequenceID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764
Q9Y3S12108212312297ChainID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2


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SNVs in the skipped exons for WNK2

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

check button - Differential PSIs between mutated versus non-mutated samples.
WNK2_COAD_exon_skip_497224_psi_boxplot.png
boxplot
WNK2_LUAD_exon_skip_497224_psi_boxplot.png
boxplot
WNK2_READ_exon_skip_497224_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-BC-A3KG-01exon_skip_497207
96009825960101169600994496009944Frame_Shift_DelG-p.E554fs
COADTCGA-CM-5861-01exon_skip_497217
96019230960194219601930596019305Frame_Shift_DelC-p.V755fs
LIHCTCGA-DD-A1EG-01exon_skip_497217
96019230960194219601935196019351Frame_Shift_DelC-p.A771fs
LIHCTCGA-DD-A39Y-01exon_skip_497218
96021213960218969602123496021234Frame_Shift_DelC-p.P803fs
UCSTCGA-NF-A4X2-01exon_skip_497218
96021213960218969602123596021245Frame_Shift_DelCCCCCATCACG-p.802_805del
UCSTCGA-NF-A4X2-01exon_skip_497218
96021213960218969602123596021245Frame_Shift_DelCCCCCATCACG-p.PPIT802fs
LIHCTCGA-DD-A39Y-01exon_skip_497218
96021213960218969602149996021499Frame_Shift_DelC-p.A890fs
LIHCTCGA-DD-A3A0-01exon_skip_497218
96021213960218969602149996021499Frame_Shift_DelC-p.A890fs
LIHCTCGA-DD-A1EG-01exon_skip_497218
96021213960218969602168196021681Frame_Shift_DelC-p.P952fs
LIHCTCGA-G3-A3CJ-01exon_skip_497218
96021213960218969602169996021699Frame_Shift_DelC-p.P958fs
COADTCGA-AD-5900-01exon_skip_497224
96051070960519029605119096051190Frame_Shift_DelC-p.A1385fs
LIHCTCGA-DD-A1EG-01exon_skip_497224
96051070960519029605165196051651Frame_Shift_DelC-p.P1577fs
LIHCTCGA-DD-A39Y-01exon_skip_497224
96051070960519029605165196051651Frame_Shift_DelC-p.P1577fs
LIHCTCGA-DD-A3A0-01exon_skip_497224
96051070960519029605165196051651Frame_Shift_DelC-p.P1577fs
LIHCTCGA-DD-A39Y-01exon_skip_497224
96051070960519029605169996051699Frame_Shift_DelA-p.K1592fs
LIHCTCGA-DD-A3A0-01exon_skip_497238
exon_skip_497235
96061352960615439606137596061375Frame_Shift_DelG-p.G2020fs
LIHCTCGA-DD-A1EG-01exon_skip_497238
exon_skip_497235
96061352960615439606147896061478Frame_Shift_DelG-p.R2054fs
LIHCTCGA-G3-A3CJ-01exon_skip_497256
96062333960624319606234296062342Frame_Shift_DelT-p.V2079fs
LIHCTCGA-DD-A39Y-01exon_skip_497254
96070610960708669607063196070631Frame_Shift_DelC-p.A2131fs
SKCMTCGA-FR-A3R1-01exon_skip_497207
96009825960101169600990096009900Nonsense_MutationCTp.Q540*
SKCMTCGA-FR-A3R1-01exon_skip_497207
96009825960101169600990096009900Nonsense_MutationCTp.Q540X
READTCGA-F5-6814-01exon_skip_497224
96051070960519029605107396051073Nonsense_MutationCAp.S1346X
SKCMTCGA-ER-A19W-06exon_skip_497224
96051070960519029605172096051720Nonsense_MutationCTp.Q1562X
SKCMTCGA-ER-A19W-06exon_skip_497224
96051070960519029605172096051720Nonsense_MutationCTp.Q1599*
LUADTCGA-55-7995-01exon_skip_497224
96051070960519029605176596051765Nonsense_MutationGTp.E1614*
PAADTCGA-IB-7651-01exon_skip_497216
96018581960187369601858096018580Splice_SiteGT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
WNK2_96030908_96031028_96051069_96051902_96052259_96052329_TCGA-F5-6814-01Sample: TCGA-F5-6814-01
Cancer type: READ
ESID: exon_skip_497224
Skipped exon start: 96051070
Skipped exon end: 96051902
Mutation start: 96051073
Mutation end: 96051073
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.S1346X
exon_skip_104037_READ_TCGA-F5-6814-01.png
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exon_skip_108731_READ_TCGA-F5-6814-01.png
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exon_skip_111139_READ_TCGA-F5-6814-01.png
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exon_skip_111141_READ_TCGA-F5-6814-01.png
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exon_skip_134785_READ_TCGA-F5-6814-01.png
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exon_skip_138676_READ_TCGA-F5-6814-01.png
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exon_skip_141979_READ_TCGA-F5-6814-01.png
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exon_skip_142361_READ_TCGA-F5-6814-01.png
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exon_skip_142369_READ_TCGA-F5-6814-01.png
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exon_skip_142374_READ_TCGA-F5-6814-01.png
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exon_skip_145114_READ_TCGA-F5-6814-01.png
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exon_skip_145115_READ_TCGA-F5-6814-01.png
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exon_skip_153669_READ_TCGA-F5-6814-01.png
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exon_skip_28270_READ_TCGA-F5-6814-01.png
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exon_skip_290191_READ_TCGA-F5-6814-01.png
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exon_skip_296525_READ_TCGA-F5-6814-01.png
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exon_skip_358963_READ_TCGA-F5-6814-01.png
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exon_skip_428765_READ_TCGA-F5-6814-01.png
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exon_skip_43545_READ_TCGA-F5-6814-01.png
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exon_skip_444150_READ_TCGA-F5-6814-01.png
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exon_skip_479241_READ_TCGA-F5-6814-01.png
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exon_skip_497224_READ_TCGA-F5-6814-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96015165960153649601528996015289Frame_Shift_DelC-p.S653fs
SNU407_LARGE_INTESTINE96018581960187369601869096018690Frame_Shift_DelC-p.T715fs
HCT116_LARGE_INTESTINE96019230960194219601930596019305Frame_Shift_DelC-p.P757fs
DV90_LUNG96021213960218969602137196021371Frame_Shift_DelC-p.L847fs
HEC265_ENDOMETRIUM96021213960218969602141996021419Frame_Shift_DelC-p.H863fs
IGROV1_OVARY96021213960218969602141996021419Frame_Shift_DelC-p.H863fs
CW2_LARGE_INTESTINE96021213960218969602161096021610Frame_Shift_DelC-p.S927fs
SISO_CERVIX96051070960519029605159796051597Frame_Shift_DelC-p.P1558fs
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96051070960519029605159796051597Frame_Shift_DelC-p.P1558fs
MFE296_ENDOMETRIUM96051070960519029605165196051651Frame_Shift_DelC-p.P1577fs
NUGC2_STOMACH96051070960519029605165196051651Frame_Shift_DelC-p.P1577fs
C33A_CERVIX96051070960519029605183196051831Frame_Shift_DelG-p.G1637fs
CL34_LARGE_INTESTINE96051070960519029605183196051831Frame_Shift_DelG-p.G1637fs
IGROV1_OVARY96019230960194219601930496019305Frame_Shift_Ins-Cp.P756fs
SNU1040_LARGE_INTESTINE96019230960194219601930496019305Frame_Shift_Ins-Cp.P756fs
22RV1_PROSTATE96021213960218969602141896021419Frame_Shift_Ins-Cp.HP863fs
SNUC5_LARGE_INTESTINE96021213960218969602141896021419Frame_Shift_Ins-Cp.HP863fs
NCIH1435_LUNG96021213960218969602179396021794Frame_Shift_Ins-Ap.Q989fs
HEC265_ENDOMETRIUM96051070960519029605183096051831Frame_Shift_Ins-Gp.G1636fs
HCT116_LARGE_INTESTINE96051070960519029605183096051831Frame_Shift_Ins-Gp.G1636fs
LS180_LARGE_INTESTINE96051070960519029605183096051831Frame_Shift_Ins-Gp.G1636fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96021213960218969602173396021750In_Frame_DelTGCCCCCGCAACCCACAC-p.968_974LPPQPTR>W
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96009825960101169600985596009855Missense_MutationGAp.V525I
TGBC11TKB_STOMACH96009825960101169600987996009879Missense_MutationCAp.R533S
SNU1_STOMACH96009825960101169600992396009923Missense_MutationGTp.W547C
KYSE150_OESOPHAGUS96009825960101169600996396009963Missense_MutationCTp.P561S
MFE319_ENDOMETRIUM96015165960153649601521296015212Missense_MutationTCp.S628P
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM96015165960153649601526196015261Missense_MutationCTp.A644V
SARC9371_BONE96015165960153649601529396015293Missense_MutationCTp.P655S
C33A_CERVIX96015165960153649601536296015362Missense_MutationGAp.A678T
CAL33_UPPER_AERODIGESTIVE_TRACT96018581960187369601861196018611Missense_MutationCTp.P689S
EN_ENDOMETRIUM96018581960187369601861796018617Missense_MutationTCp.C691R
HEC251_ENDOMETRIUM96018581960187369601862496018624Missense_MutationCTp.P693L
AN3CA_ENDOMETRIUM96018581960187369601865096018650Missense_MutationCTp.P702S
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96018581960187369601866596018665Missense_MutationGAp.A707T
NCIH1355_LUNG96019230960194219601923796019237Missense_MutationCTp.P733L
NCIH187_LUNG96019230960194219601923796019237Missense_MutationCTp.P733L
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96019230960194219601937696019376Missense_MutationGTp.Q779H
HOS_BONE96019230960194219601939396019393Missense_MutationTAp.L785Q
HTK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96019230960194219601939396019393Missense_MutationTAp.L785Q
SNU324_PANCREAS96021213960218969602130796021307Missense_MutationCAp.P826H
HCC78_LUNG96021213960218969602141896021418Missense_MutationACp.H863P
NCIH522_LUNG96021213960218969602150596021505Missense_MutationCGp.P892R
CW2_LARGE_INTESTINE96021213960218969602151196021511Missense_MutationTCp.V894A
KM12_LARGE_INTESTINE96021213960218969602157196021571Missense_MutationCTp.A914V
MKN1_STOMACH96021213960218969602157196021571Missense_MutationCTp.A914V
LB771HNC_UPPER_AERODIGESTIVE_TRACT96021213960218969602160796021607Missense_MutationCGp.P926R
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM96021213960218969602164396021643Missense_MutationCTp.T938I
NCIH1838_LUNG96021213960218969602174596021745Missense_MutationCTp.P972L
GP2D_LARGE_INTESTINE96021213960218969602174796021747Missense_MutationAGp.T973A
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96021213960218969602178796021787Missense_MutationTCp.L986P
EW11_BONE96021213960218969602188296021882Missense_MutationACp.T1018P
HT55_LARGE_INTESTINE96024952960250019602496196024961Missense_MutationTAp.S1124T
SKGIIIA_CERVIX96051070960519029605115796051157Missense_MutationGAp.S1411N
SKMEL3_SKIN96051070960519029605119296051192Missense_MutationCTp.P1423S
CADOES1_BONE96051070960519029605125596051255Missense_MutationCGp.P1444A
TCYIK_CERVIX96051070960519029605125596051255Missense_MutationCGp.P1444A
DU145_PROSTATE96051070960519029605129796051297Missense_MutationGAp.G1458R
COLO741_SKIN96051070960519029605130996051309Missense_MutationGAp.G1462R
HT144_SKIN96051070960519029605138796051387Missense_MutationGTp.V1488L
NCIH1373_LUNG96051070960519029605148496051484Missense_MutationGTp.S1520I
TOV21G_OVARY96051070960519029605148496051484Missense_MutationGAp.S1520N
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96051070960519029605148496051484Missense_MutationGAp.S1520N
LS180_LARGE_INTESTINE96051070960519029605151096051510Missense_MutationGAp.A1529T
SARC9371_BONE96051070960519029605154996051549Missense_MutationGAp.G1542R
SARC9371_BONE96051070960519029605155096051550Missense_MutationGAp.G1542E
LOVO_LARGE_INTESTINE96051070960519029605155696051556Missense_MutationTCp.V1544A
GAMG_CENTRAL_NERVOUS_SYSTEM96051070960519029605157996051579Missense_MutationCTp.P1552S
SNU1040_LARGE_INTESTINE96051070960519029605157996051579Missense_MutationCTp.P1552S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96051070960519029605168296051682Missense_MutationTCp.I1586T
NCIH650_LUNG96051070960519029605188096051880Missense_MutationGCp.R1652P
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96051070960519029605188096051880Missense_MutationGAp.R1652H
LB2518MEL_SKIN96051070960519029605188596051885Missense_MutationCAp.Q1654K
OVK18_OVARY96051070960519029605189596051895Missense_MutationAGp.Q1657R
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96052260960523299605227896052278Missense_MutationGAp.A1666T
NCIH1770_LUNG96052260960523299605229196052291Missense_MutationGAp.G1670E
NCIH2106_LUNG96052260960523299605229196052291Missense_MutationGAp.G1670E
SNU283_LARGE_INTESTINE96061352960615439606137996061379Missense_MutationCTp.P2021L
HGC27_STOMACH96061352960615439606137996061379Missense_MutationCTp.P2021L
NCIH1437_LUNG96061352960615439606140696061406Missense_MutationGTp.S2030I
SNU1040_LARGE_INTESTINE96061352960615439606143896061438Missense_MutationATp.S2041C
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96061352960615439606144196061441Missense_MutationGAp.G2042R
SNU1040_LARGE_INTESTINE96061352960615439606148396061483Missense_MutationTAp.S2056T
HEC6_ENDOMETRIUM96061352960615439606150296061502Missense_MutationGAp.C2062Y
G402_SOFT_TISSUE96061352960615439606152296061522Missense_MutationGAp.G2069R
BICR18_UPPER_AERODIGESTIVE_TRACT96062333960624319606236696062366Missense_MutationTGp.V2087G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96062333960624319606236696062366Missense_MutationTGp.V2087G
BICR18_UPPER_AERODIGESTIVE_TRACT96062333960624319606236896062368Missense_MutationAGp.T2088A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96062333960624319606236896062368Missense_MutationAGp.T2088A
SNU1040_LARGE_INTESTINE96062333960624319606239596062395Missense_MutationGAp.A2097T
NCIH1105_LUNG96062333960624319606239996062399Missense_MutationGAp.R2098Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96070610960708669607066096070660Missense_MutationGAp.A2141T
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96070610960708669607070496070704Missense_MutationGCp.K2155N
LCLC103H_LUNG96070610960708669607073296070732Missense_MutationCAp.L2165M
FTC238_THYROID96070610960708669607076896070768Missense_MutationGAp.A2177T
SNU478_BILIARY_TRACT96070610960708669607083896070838Missense_MutationGAp.G2200D
MFE319_ENDOMETRIUM96070610960708669607084796070847Missense_MutationCTp.A2203V
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE96021213960218969602154396021543Nonsense_MutationCTp.Q905*
SNU81_LARGE_INTESTINE96069059960691039606909196069091Nonsense_MutationGTp.E2120*
COLO668_LUNG96070610960708669607064296070642Nonsense_MutationGTp.E2135*
LS411N_LARGE_INTESTINE96015165960153649601516696015166Splice_SiteGAp.S612S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WNK2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_497224996030908:96031028:96051069:96051902:96052259:9605232996051069:96051902ENST00000395475.2,ENST00000411624.1,ENST00000356055.3,ENST00000448251.1,ENST00000395477.2,ENST00000427277.2,ENST00000432730.1LGGrs2169756chr9:96051521A/G1.10e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WNK2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WNK2


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RelatedDrugs for WNK2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for WNK2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource