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 | 517 | 81 | 421 |
| Samples | 402 | 62 | 337 |
| Peptides | 330 | 45 | 286 |
Function
CEP104 · Centrosomal protein 104
This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016].
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 323 amino-acid changes on canonical ENST00000378230 · 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 CEP104 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CEP104 – 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 | 2/25 8% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 20/612 3% |
| Melanoma | 3/210 1% | 44/1899 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Bladder Carcinoma | 3/58 5% | 18/956 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 15/1390 1% |
| Colorectal Carcinoma | 9/143 6% | 46/3239 1% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 9/810 1% |
| Gastric Carcinoma | 1/74 1% | 20/1809 1% |
| Non-Cancerous | 0/104 0% | 10/830 1% |
| Other Solid Cancers | 0/94 0% | 17/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Neuroendocrine Tumour | 5/154 3% | 2/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 18/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 13/2534 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Glioma | 0/52 0% | 14/2127 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Head and Neck Carcinoma | 0/85 0% | 9/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Ovarian Carcinoma | 1/109 1% | 4/998 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
Mutation Distribution
Where CEP104 is mutated · all tissues, split by cell line vs tissue
How many mutations in CEP104 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 517 mutations in CEP104
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 |
|---|