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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for WNK2 |
 Gene summary |
| Gene information | Gene symbol | WNK2 | Gene ID | 65268 |
| Gene name | WNK lysine deficient protein kinase 2 | |
| Synonyms | NY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43 | |
| Cytomap | 9q22.31 | |
| Type of gene | protein-coding | |
| Description | serine/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 date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| WNK2 | GO:0006468 | protein phosphorylation | 21733846 |
| WNK2 | GO:0046777 | protein autophosphorylation | 17667937 |
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Gene structures and expression levels for WNK2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000165238
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000474009.5 | WNK2-214:lncRNA:WNK2 | 2.935353e+00 | -1.044395e+00 | 5.660948e-03 | 2.180065e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for WNK2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_113291 | chr9 | 93247543:93247834:93252883:93253082:93256948:93257139 | 93252883:93253082 |
| exon_skip_119673 | chr9 | 93299070:93299261:93300051:93300149:93306777:93306818 | 93300051:93300149 |
| exon_skip_123626 | chr9 | 93247543:93247834:93252883:93253082:93256299:93256454 | 93252883:93253082 |
| exon_skip_125537 | chr9 | 93297853:93298067:93308328:93308584:93317520:93317631 | 93308328:93308584 |
| exon_skip_136075 | chr9 | 93297853:93298067:93299070:93299261:93300051:93300149 | 93299070:93299261 |
| exon_skip_172436 | chr9 | 93261814:93262107:93262670:93262719:93263566:93263734 | 93262670:93262719 |
| exon_skip_194881 | chr9 | 93252883:93253082:93256948:93257139:93258931:93259075 | 93256948:93257139 |
| exon_skip_204065 | chr9 | 93268627:93268746:93288788:93289620:93289978:93290047 | 93288788:93289620 |
| exon_skip_204811 | chr9 | 93297853:93298067:93299070:93299261:93308328:93308584 | 93299070:93299261 |
| exon_skip_227144 | chr9 | 93289978:93290047:93292308:93292396:93292491:93292988 | 93292308:93292396 |
| exon_skip_245911 | chr9 | 93252883:93253082:93256299:93256454:93256948:93257139 | 93256299:93256454 |
| exon_skip_269430 | chr9 | 93297853:93298067:93299070:93299261:93300051:93300098 | 93299070:93299261 |
| exon_skip_286149 | chr9 | 93299070:93299261:93300051:93300149:93306777:93306821 | 93300051:93300149 |
| exon_skip_291367 | chr9 | 93256948:93257139:93258931:93259614:93261814:93262107 | 93258931:93259614 |
| exon_skip_42763 | chr9 | 93289978:93290047:93292311:93292396:93292491:93292988 | 93292311:93292396 |
| exon_skip_50163 | chr9 | 93289187:93289620:93289978:93290047:93292308:93292396 | 93289978:93290047 |
| exon_skip_52419 | chr9 | 93300051:93300149:93306777:93306821:93308328:93308584 | 93306777:93306821 |
| exon_skip_60906 | chr9 | 93229696:93229868:93230888:93231108:93234808:93234965 | 93230888:93231108 |
| exon_skip_94365 | chr9 | 93297853:93298067:93299070:93299261:93300051:93300326 | 93299070:93299261 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for WNK2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000297954 | 93252883 | 93253082 | Frame-shift |
| ENST00000297954 | 93262670 | 93262719 | Frame-shift |
| ENST00000297954 | 93289978 | 93290047 | Frame-shift |
| ENST00000297954 | 93256299 | 93256454 | In-frame |
| ENST00000297954 | 93258931 | 93259614 | In-frame |
| ENST00000297954 | 93299070 | 93299261 | In-frame |
| ENST00000297954 | 93300051 | 93300149 | In-frame |
| ENST00000297954 | 93306777 | 93306821 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000297954 | 93256299 | 93256454 | In-frame |
| ENST00000297954 | 93299070 | 93299261 | In-frame |
| ENST00000297954 | 93300051 | 93300149 | In-frame |
| ENST00000297954 | 93306777 | 93306821 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000297954 | 93230888 | 93231108 | Frame-shift |
| ENST00000297954 | 93252883 | 93253082 | Frame-shift |
| ENST00000297954 | 93262670 | 93262719 | Frame-shift |
| ENST00000297954 | 93292308 | 93292396 | Frame-shift |
| ENST00000297954 | 93256299 | 93256454 | In-frame |
| ENST00000297954 | 93258931 | 93259614 | In-frame |
| ENST00000297954 | 93299070 | 93299261 | In-frame |
| ENST00000297954 | 93300051 | 93300149 | In-frame |
| ENST00000297954 | 93306777 | 93306821 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WNK2 |
p-ENSG00000165238_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000297954 | 7155 | 2297 | 93256299 | 93256454 | 2036 | 2190 | 678 | 730 |
| ENST00000297954 | 7155 | 2297 | 93258931 | 93259614 | 2384 | 3066 | 794 | 1022 |
| ENST00000297954 | 7155 | 2297 | 93299070 | 93299261 | 6036 | 6226 | 2012 | 2075 |
| ENST00000297954 | 7155 | 2297 | 93300051 | 93300149 | 6228 | 6325 | 2076 | 2108 |
| ENST00000297954 | 7155 | 2297 | 93306777 | 93306821 | 6327 | 6370 | 2109 | 2123 |
| Loci of skipped exons in MSBB 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 |
| ENST00000297954 | 7155 | 2297 | 93256299 | 93256454 | 2036 | 2190 | 678 | 730 |
| ENST00000297954 | 7155 | 2297 | 93299070 | 93299261 | 6036 | 6226 | 2012 | 2075 |
| ENST00000297954 | 7155 | 2297 | 93300051 | 93300149 | 6228 | 6325 | 2076 | 2108 |
| ENST00000297954 | 7155 | 2297 | 93306777 | 93306821 | 6327 | 6370 | 2109 | 2123 |
| Loci of skipped exons in Mayo 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 |
| ENST00000297954 | 7155 | 2297 | 93256299 | 93256454 | 2036 | 2190 | 678 | 730 |
| ENST00000297954 | 7155 | 2297 | 93258931 | 93259614 | 2384 | 3066 | 794 | 1022 |
| ENST00000297954 | 7155 | 2297 | 93299070 | 93299261 | 6036 | 6226 | 2012 | 2075 |
| ENST00000297954 | 7155 | 2297 | 93300051 | 93300149 | 6228 | 6325 | 2076 | 2108 |
| ENST00000297954 | 7155 | 2297 | 93306777 | 93306821 | 6327 | 6370 | 2109 | 2123 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q9Y3S1 | 678 | 730 | 680 | 731 | Alternative sequence | ID=VSP_050640;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 678 | 730 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 794 | 1022 | 843 | 845 | Alternative sequence | ID=VSP_050641;Note=In isoform 3. LAA->RTR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 794 | 1022 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 794 | 1022 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 794 | 1022 | 828 | 828 | Natural variant | ID=VAR_057114;Note=V->M;Dbxref=dbSNP:rs10761203 |
| Q9Y3S1 | 794 | 1022 | 974 | 974 | Natural variant | ID=VAR_059773;Note=R->L;Dbxref=dbSNP:rs10114908 |
| Q9Y3S1 | 2012 | 2075 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2012 | 2075 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 2012 | 2075 | 2067 | 2067 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21733846;Dbxref=PMID:21733846 |
| Q9Y3S1 | 2076 | 2108 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2076 | 2108 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 2109 | 2123 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2109 | 2123 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q9Y3S1 | 678 | 730 | 680 | 731 | Alternative sequence | ID=VSP_050640;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 678 | 730 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 2012 | 2075 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2012 | 2075 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 2012 | 2075 | 2067 | 2067 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21733846;Dbxref=PMID:21733846 |
| Q9Y3S1 | 2076 | 2108 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2076 | 2108 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 2109 | 2123 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2109 | 2123 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q9Y3S1 | 678 | 730 | 680 | 731 | Alternative sequence | ID=VSP_050640;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 678 | 730 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 794 | 1022 | 843 | 845 | Alternative sequence | ID=VSP_050641;Note=In isoform 3. LAA->RTR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 794 | 1022 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 794 | 1022 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 794 | 1022 | 828 | 828 | Natural variant | ID=VAR_057114;Note=V->M;Dbxref=dbSNP:rs10761203 |
| Q9Y3S1 | 794 | 1022 | 974 | 974 | Natural variant | ID=VAR_059773;Note=R->L;Dbxref=dbSNP:rs10114908 |
| Q9Y3S1 | 2012 | 2075 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2012 | 2075 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 2012 | 2075 | 2067 | 2067 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21733846;Dbxref=PMID:21733846 |
| Q9Y3S1 | 2076 | 2108 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2076 | 2108 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
| Q9Y3S1 | 2109 | 2123 | 846 | 2297 | Alternative sequence | ID=VSP_050642;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11280764;Dbxref=PMID:11280764 |
| Q9Y3S1 | 2109 | 2123 | 1 | 2297 | Chain | ID=PRO_0000086822;Note=Serine/threonine-protein kinase WNK2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in WNK2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for WNK2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for WNK2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_57709 | 4.204476e-01 | 2.589570e-02 | chr9 | + | 93308501 | 93308584 | 93316719 | 93316797 | 93317520 | 93317631 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WNK2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for WNK2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_246085 | -4.993683e-01 | 2.079716e-11 |
| CB | RBM6 | exon_skip_246085 | -5.144610e-01 | 4.013431e-12 |
| CB | U2AF2 | exon_skip_246085 | -4.194073e-01 | 3.741136e-08 |
| CB | TRA2A | exon_skip_246085 | -4.078309e-01 | 9.511803e-08 |
| CB | HNRNPDL | exon_skip_246085 | 4.571393e-01 | 1.384624e-09 |
| CB | RBM45 | exon_skip_246085 | 5.510940e-01 | 5.191749e-14 |
| CB | TARDBP | exon_skip_242699 | -4.283567e-01 | 2.427226e-08 |
| CB | U2AF2 | exon_skip_242699 | -4.957723e-01 | 4.687340e-11 |
| CB | CNOT4 | exon_skip_242699 | -4.339272e-01 | 1.522423e-08 |
| CB | PCBP4 | exon_skip_242699 | 4.133130e-01 | 8.208039e-08 |
| CB | TRA2A | exon_skip_242699 | -4.356637e-01 | 1.314123e-08 |
| CB | FUBP1 | exon_skip_242699 | -4.096766e-01 | 1.092203e-07 |
| CB | HNRNPC | exon_skip_242699 | -4.433212e-01 | 6.800492e-09 |
| CB | RBM4 | exon_skip_242699 | -5.827365e-01 | 1.454829e-15 |
| CB | RBM4B | exon_skip_242699 | -4.636115e-01 | 1.094934e-09 |
| TC | ELAVL4 | exon_skip_246085 | 5.315315e-01 | 6.688431e-13 |
| TC | KHDRBS3 | exon_skip_246085 | 4.605417e-01 | 1.139037e-09 |
| TC | RBM24 | exon_skip_246085 | 4.190575e-01 | 4.253247e-08 |
| TC | RALYL | exon_skip_246085 | 4.735013e-01 | 3.316249e-10 |
| TC | NOVA1 | exon_skip_246085 | 4.048346e-01 | 1.320858e-07 |
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RelatedDrugs for WNK2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for WNK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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