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 | 664 | 120 | 537 |
| Samples | 345 | 85 | 256 |
| Peptides | 254 | 56 | 207 |
Function
KCNQ1 · Potassium voltage-gated channel subfamily Q member 1
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011].
Isoforms & Proteins
4 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000155840 | P51787 | 357 | 249 |
| ENST00000335475 | P51787-2 | 273 | 208 |
| ENST00000526095 | A0A2R8YDV1* | 33 | 28 |
| ENST00000496887 | E9PPZ0* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 249 amino-acid changes on canonical ENST00000155840 · 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 KCNQ1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KCNQ1 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 8/40 20% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 8/133 6% |
| Chordoma | 1/7 14% | 0/13 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 15/612 2% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 10/210 5% | 49/1899 3% |
| Colorectal Carcinoma | 15/143 10% | 36/3239 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Cervical Carcinoma | 1/35 3% | 5/422 1% |
| Other Solid Cancers | 4/94 4% | 16/1515 1% |
| Gastric Carcinoma | 2/74 3% | 17/1809 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 11/1390 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Other Sarcomas | 0/69 0% | 7/699 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Neuroendocrine Tumour | 3/154 2% | 2/577 0% |
| Biliary Tract Carcinoma | 2/54 4% | 4/950 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Kidney Carcinoma | 1/85 1% | 8/1862 0% |
| Ovarian Carcinoma | 0/109 0% | 5/998 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Neuroblastoma | 3/87 3% | 2/1331 0% |
| Glioma | 0/52 0% | 7/2127 0% |
Mutation Distribution
Where KCNQ1 is mutated · all tissues, split by cell line vs tissue
How many mutations in KCNQ1 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 664 mutations in KCNQ1
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 |
|---|