Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 405 | 72 | 321 |
| Samples | 213 | 42 | 168 |
| Peptides | 153 | 27 | 126 |
Function
KCNJ11 · Potassium inwardly rectifying channel subfamily J member 11
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009].
Isoforms & Proteins
3 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
Gene Properties
Recurrent Mutations
All 149 amino-acid changes on canonical ENST00000339994 · needle height = samples · drag the mini-map to zoom
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 KCNJ11 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KCNJ11 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 13/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Colorectal Carcinoma | 7/143 5% | 28/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 1/74 1% | 17/1809 1% |
| Melanoma | 1/210 0% | 18/1899 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 7/1390 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 5/752 1% |
| Ovarian Carcinoma | 5/109 5% | 3/998 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 4/810 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Glioma | 1/52 2% | 9/2127 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
| Thyroid Gland Carcinoma | 3/45 7% | 1/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 4/2534 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
Mutation Distribution
Where KCNJ11 is mutated · all tissues, split by cell line vs tissue
How many mutations in KCNJ11 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
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 405 mutations in KCNJ11
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|