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 | 521 | 117 | 382 |
| Samples | 460 | 107 | 346 |
| Peptides | 295 | 74 | 231 |
Function
KRT6A · Keratin 6A
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000330722 | P02538 | 521 | 295 |
Gene Properties
Recurrent Mutations
All 295 amino-acid changes on canonical ENST00000330722 · 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 KRT6A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KRT6A – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Melanoma | 8/210 4% | 49/1899 3% |
| Non-Small Cell Lung Carcinoma | 29/304 10% | 15/1390 1% |
| Unknown | 1/10 10% | 0/29 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 13/612 2% |
| Colorectal Carcinoma | 12/143 8% | 49/3239 2% |
| Ovarian Carcinoma | 5/109 5% | 12/998 1% |
| Gastric Carcinoma | 2/74 3% | 24/1809 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 21/1592 1% |
| Other Solid Cancers | 3/94 3% | 16/1515 1% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 5/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Hepatocellular Carcinoma | 2/46 4% | 23/2210 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Non-Cancerous | 0/104 0% | 9/830 1% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 4/752 1% |
| Head and Neck Carcinoma | 6/85 7% | 7/1574 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Prostate Carcinoma | 3/13 23% | 9/2105 0% |
| Glioma | 0/52 0% | 12/2127 1% |
| Breast Carcinoma | 4/144 3% | 13/3264 0% |
| Pancreatic Carcinoma | 2/89 2% | 5/1611 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
Mutation Distribution
Where KRT6A is mutated · all tissues, split by cell line vs tissue
How many mutations in KRT6A 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 521 mutations in KRT6A
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 |
|---|