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 | 946 | 84 | 847 |
| Samples | 220 | 29 | 187 |
| Peptides | 171 | 28 | 143 |
Function
CEP57 · Centrosomal protein 57
This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011].
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 157 amino-acid changes on canonical ENST00000325542 · 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 CEP57 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CEP57 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Endometrial Carcinoma | 2/42 5% | 8/612 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Colorectal Carcinoma | 6/143 4% | 27/3239 1% |
| Melanoma | 1/210 0% | 19/1899 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 7/810 1% |
| Gastric Carcinoma | 1/74 1% | 14/1809 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Other Solid Cancers | 1/94 1% | 10/1515 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 7/1390 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 12/2550 0% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Prostate Carcinoma | 0/13 0% | 9/2105 0% |
| Hepatocellular Carcinoma | 1/46 2% | 8/2210 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 1/144 1% | 6/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Glioma | 0/52 0% | 4/2127 0% |
Mutation Distribution
Where CEP57 is mutated · all tissues, split by cell line vs tissue
How many mutations in CEP57 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 946 mutations in CEP57
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 |
|---|