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 | 54 | 15 | 38 |
| Samples | 49 | 15 | 33 |
| Peptides | 25 | 9 | 17 |
Function
KRTAP1-4 · Keratin associated protein 1-4
The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009].
Isoforms & Proteins
2 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 24 amino-acid changes on canonical ENST00000377747 · 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 KRTAP1-4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KRTAP1-4 – 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% | 3/133 2% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Endometrial Carcinoma | 0/42 0% | 3/612 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 1/1390 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 3/2534 0% |
| Colorectal Carcinoma | 2/143 1% | 3/3239 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 1/1592 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Gastric Carcinoma | 0/74 0% | 2/1809 0% |
| Breast Carcinoma | 0/144 0% | 2/3264 0% |
| Pancreatic Carcinoma | 1/89 1% | 0/1611 0% |
| Other Solid Cancers | 1/94 1% | 0/1515 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 0/2550 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
Mutation Distribution
Where KRTAP1-4 is mutated · all tissues, split by cell line vs tissue
How many mutations in KRTAP1-4 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.
Mutations
All 54 mutations in KRTAP1-4
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 |
|---|