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 | 144 | 26 | 114 |
| Samples | 140 | 25 | 111 |
| Peptides | 108 | 17 | 95 |
Function
CDK5R1 · Cyclin dependent kinase 5 regulatory subunit 1
The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000313401 | Q15078 | 144 | 108 |
Gene Properties
Recurrent Mutations
All 108 amino-acid changes on canonical ENST00000313401 · 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 CDK5R1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CDK5R1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 3/42 7% | 9/612 1% |
| Colorectal Carcinoma | 6/143 4% | 28/3239 1% |
| Melanoma | 5/210 2% | 14/1899 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Gastric Carcinoma | 2/74 3% | 10/1809 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Meningioma | 0/3 0% | 1/252 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 3/1390 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Bladder Carcinoma | 1/58 2% | 2/956 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 5/2534 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Pancreatic Carcinoma | 1/89 1% | 1/1611 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 2/2640 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
Mutation Distribution
Where CDK5R1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CDK5R1 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 144 mutations in CDK5R1
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 |
|---|