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 | 2,864 | 469 | 2,364 |
| Samples | 237 | 57 | 174 |
| Peptides | 229 | 43 | 185 |
Function
CEP78 · Centrosomal protein 78
This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017].
Isoforms & Proteins
13 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 |
|---|---|---|---|
| ENST00000643273 | Q5JTW2-3 | 250 | 197 |
| ENST00000376597 | Q5JTW2-2 | 222 | 189 |
| ENST00000643499 | A0A2R8Y7A4* | 222 | 189 |
| ENST00000645398 | A0A2R8YCP0* | 222 | 189 |
| ENST00000376598 | A0A2U3TZI9* | 219 | 186 |
| ENST00000277082 | A8MST6* | 218 | 185 |
| ENST00000415759 | Q5JTW2-5 | 218 | 185 |
| ENST00000642669 | Q5JTW2-5 | 218 | 185 |
| ENST00000643347 | A0A2R8Y5W6* | 218 | 185 |
| ENST00000424347 | Q5JTW2 | 217 | 183 |
| ENST00000642214 | A0A2R8Y4C1* | 215 | 182 |
| ENST00000647199 | A0A2R8Y7U5* | 215 | 182 |
| ENST00000643847 | A0A2R8Y589* | 210 | 178 |
Gene Properties
Recurrent Mutations
All 197 amino-acid changes on canonical ENST00000643273 · 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 CEP78 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CEP78 – 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 | 3/40 8% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 19/612 3% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 12/1390 1% |
| Melanoma | 7/210 3% | 19/1899 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Colorectal Carcinoma | 4/143 3% | 32/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 2/58 3% | 7/956 1% |
| Other Solid Cancers | 1/94 1% | 9/1515 1% |
| Head and Neck Carcinoma | 4/85 5% | 6/1574 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 4/810 0% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 9/2550 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Gastric Carcinoma | 1/74 1% | 7/1809 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Breast Carcinoma | 3/144 2% | 6/3264 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 2/1592 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Prostate Carcinoma | 2/13 15% | 2/2105 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 1/2534 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
Mutation Distribution
Where CEP78 is mutated · all tissues, split by cell line vs tissue
How many mutations in CEP78 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 2,864 mutations in CEP78
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 |
|---|