WNK1

WNK lysine deficient protein kinase 1 Q9H4A3 WNK1_HUMAN
Protein Coding Chr 12 12p13.33 Swiss-Prot reviewed Entrez 65125
Mutations
5,481
CL 724 · Tissue 4,588
Samples
1,086
CL 206 · Tissue 862
Peptides
1,060
unique mutant peptides
Transcripts
7
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations5,4817244,588
Samples1,086206862
Peptides1,060175859

Function

WNK1 · WNK lysine deficient protein kinase 1

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010].

Isoforms & Proteins

7 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000530271 Q9H4A3-7 1,164 921
ENST00000315939 Q9H4A3 1,131 843
ENST00000537687 Q9H4A3-6 1,081 849
ENST00000340908 Q9H4A3-5 1,075 833
ENST00000535572 F5GWT4* 871 682
ENST00000447667 F6UYG0* 147 113
ENST00000675631 Q9H4A3-4 12 10

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p13.33
Entrez ID
Aliases
HSAN2HSN2KDPPPP1R167PRKWNK1PSK

Recurrent Mutations

All 921 amino-acid changes on canonical ENST00000530271 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in WNK1 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in WNK1 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
11/40 28%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
11/42 26%
33/612 5%
Glioblastoma
6/98 6%
0/0 0%
Hodgkins Lymphoma
4/16 25%
4/122 3%
Bladder Carcinoma
4/58 7%
47/956 5%
Melanoma
8/210 4%
94/1899 5%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Other Solid Cancers
5/94 5%
67/1515 4%
Squamous Cell Lung Carcinoma
2/57 4%
36/810 4%
Non-Small Cell Lung Carcinoma
30/304 10%
39/1390 3%
Cervical Carcinoma
1/35 3%
17/422 4%
Colorectal Carcinoma
26/143 18%
107/3239 3%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Gastric Carcinoma
8/74 11%
50/1809 3%
Burkitts Lymphoma
6/32 19%
1/196 1%
Germ Cell Tumour
1/25 4%
4/169 2%
Neuroendocrine Tumour
8/154 5%
10/577 2%
Esophageal Carcinoma
3/23 13%
16/769 2%
Head and Neck Carcinoma
3/85 4%
34/1574 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Biliary Tract Carcinoma
5/54 9%
16/950 2%
Ovarian Carcinoma
8/109 7%
15/998 2%
Esophageal Squamous Cell Carcinoma
3/51 6%
50/2550 2%
Osteosarcoma
2/45 4%
2/166 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Other Sarcomas
1/69 1%
12/699 2%
Hepatocellular Carcinoma
3/46 7%
31/2210 1%
Non-Cancerous
0/104 0%
14/830 2%

Mutation Distribution

Where WNK1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in WNK1 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 5,481 mutations in WNK1

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide