KCNJ6

Potassium inwardly rectifying channel subfamily J member 6 P48051 KCNJ6_HUMAN
Protein Coding Chr 21 21q22.13 Swiss-Prot reviewed Entrez 3763
Mutations
641
CL 91 · Tissue 548
Samples
326
CL 62 · Tissue 263
Peptides
228
unique mutant peptides
Transcripts
2
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
Mutations64191548
Samples32662263
Peptides22832206

Function

KCNJ6 · Potassium inwardly rectifying channel subfamily J member 6

This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015].

Isoforms & Proteins

2 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
ENST00000609713 P48051 338 228
ENST00000645093 P48051 303 224

Gene Properties

Type
Protein Coding
Chromosome
21
Cytoband
21q22.13
Entrez ID
Aliases
BIR1GIRK-2GIRK2KATP-2KATP2KCNJ7

Recurrent Mutations

All 228 amino-acid changes on canonical ENST00000609713 · 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 KCNJ6 · 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 KCNJ6 – 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
4/40 10%
0/0 0%
Melanoma
13/210 6%
64/1899 3%
Osteosarcoma
3/45 7%
2/166 1%
Endometrial Carcinoma
5/42 12%
10/612 2%
Colorectal Carcinoma
9/143 6%
41/3239 1%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Other Solid Cancers
0/94 0%
19/1515 1%
Other Sarcomas
4/69 6%
5/699 1%
Bladder Carcinoma
0/58 0%
11/956 1%
Gastric Carcinoma
0/74 0%
19/1809 1%
Non-Small Cell Lung Carcinoma
3/304 1%
14/1390 1%
Small Cell Lung Carcinoma
2/9 22%
5/752 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Ovarian Carcinoma
4/109 4%
4/998 0%
Squamous Cell Lung Carcinoma
2/57 4%
4/810 0%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Neuroendocrine Tumour
4/154 3%
0/577 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Non-Cancerous
0/104 0%
4/830 0%
Esophageal Squamous Cell Carcinoma
4/51 8%
7/2550 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Breast Carcinoma
0/144 0%
11/3264 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Head and Neck Carcinoma
0/85 0%
4/1574 0%
Glioma
0/52 0%
5/2127 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
6/2534 0%
Medulloblastoma
0/0 0%
1/450 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
B-Lymphoblastic Leukemia
2/55 4%
2/2640 0%

Mutation Distribution

Where KCNJ6 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in KCNJ6 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 53 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 641 mutations in KCNJ6

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