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 | 1,242 | 248 | 966 |
| Samples | 779 | 181 | 587 |
| Peptides | 778 | 137 | 639 |
Function
CEP290 · Centrosomal protein 290
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000552810 | O15078 | 933 | 705 |
| ENST00000309041 | J3KNF5* | 203 | 161 |
| ENST00000397838 | A0A0A0MS86* | 64 | 52 |
| ENST00000547691 | A0A5K1VW81* | 42 | 35 |
Gene Properties
Recurrent Mutations
All 704 amino-acid changes on canonical ENST00000552810 · 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 CEP290 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CEP290 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 50/612 8% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 23/810 3% |
| Non-Small Cell Lung Carcinoma | 29/304 10% | 26/1390 2% |
| Melanoma | 7/210 3% | 52/1899 3% |
| Cervical Carcinoma | 4/35 11% | 8/422 2% |
| Colorectal Carcinoma | 21/143 15% | 67/3239 2% |
| Unknown | 0/10 0% | 1/29 3% |
| Biliary Tract Carcinoma | 3/54 6% | 20/950 2% |
| Mesothelioma | 5/62 8% | 0/165 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Bladder Carcinoma | 3/58 5% | 19/956 2% |
| Gastric Carcinoma | 0/74 0% | 40/1809 2% |
| Ovarian Carcinoma | 6/109 6% | 17/998 2% |
| Neuroendocrine Tumour | 9/154 6% | 6/577 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 13/752 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Other Solid Cancers | 0/94 0% | 27/1515 2% |
| Ewings Sarcoma | 5/63 8% | 0/262 0% |
| Hepatocellular Carcinoma | 0/46 0% | 33/2210 1% |
| Plasma Cell Myeloma | 3/44 7% | 2/305 1% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 21/1592 1% |
| Breast Carcinoma | 12/144 8% | 29/3264 1% |
| Other Sarcomas | 1/69 1% | 8/699 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
Mutation Distribution
Where CEP290 is mutated · all tissues, split by cell line vs tissue
How many mutations in CEP290 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 1,242 mutations in CEP290
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 |
|---|