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 | 881 | 81 | 795 |
| Samples | 177 | 25 | 151 |
| Peptides | 98 | 16 | 85 |
Function
CDKN1A · Cyclin dependent kinase inhibitor 1A
This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015].
Isoforms & Proteins
5 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 98 amino-acid changes on canonical ENST00000244741 · 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 CDKN1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CDKN1A – 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% | 32/133 24% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Bladder Carcinoma | 1/58 2% | 10/956 1% |
| Endometrial Carcinoma | 1/42 2% | 5/612 1% |
| Melanoma | 0/210 0% | 15/1899 1% |
| Colorectal Carcinoma | 6/143 4% | 15/3239 0% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 13/2550 1% |
| Hepatocellular Carcinoma | 2/46 4% | 9/2210 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 4/1390 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Gastric Carcinoma | 0/74 0% | 7/1809 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Glioma | 1/52 2% | 5/2127 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 2/1592 0% |
| Kidney Carcinoma | 2/85 2% | 1/1862 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Other Solid Cancers | 0/94 0% | 2/1515 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
| Breast Carcinoma | 0/144 0% | 2/3264 0% |
Mutation Distribution
Where CDKN1A is mutated · all tissues, split by cell line vs tissue
How many mutations in CDKN1A 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 881 mutations in CDKN1A
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 |
|---|