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 | 139 | 50 | 85 |
| Samples | 133 | 48 | 81 |
| Peptides | 104 | 30 | 74 |
Function
ERCC8 · ERCC excision repair 8, CSA ubiquitin ligase complex subunit
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000265038 | A0A7I2PE23* | 83 | 72 |
| ENST00000676185 | Q13216 | 56 | 41 |
Gene Properties
Recurrent Mutations
All 41 amino-acid changes on canonical ENST00000676185 · 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 ERCC8 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ERCC8 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Ewings Sarcoma | 3/63 5% | 0/262 0% |
| Endometrial Carcinoma | 0/42 0% | 6/612 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 7/1390 0% |
| Meningioma | 0/3 0% | 2/252 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Melanoma | 2/210 1% | 11/1899 1% |
| Colorectal Carcinoma | 14/143 10% | 6/3239 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 5/1592 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Other Solid Cancers | 2/94 2% | 2/1515 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Kidney Carcinoma | 2/85 2% | 2/1862 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Prostate Carcinoma | 2/13 15% | 1/2105 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
Mutation Distribution
Where ERCC8 is mutated · all tissues, split by cell line vs tissue
How many mutations in ERCC8 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 139 mutations in ERCC8
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 |
|---|