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 | 655 | 93 | 554 |
| Samples | 553 | 88 | 460 |
| Peptides | 440 | 66 | 380 |
Function
ERCC5 · ERCC excision repair 5, endonuclease
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000652225 | P28715 | 655 | 440 |
Gene Properties
Recurrent Mutations
All 440 amino-acid changes on canonical ENST00000652225 · 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 ERCC5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ERCC5 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 34/133 26% |
| Endometrial Carcinoma | 2/42 5% | 31/612 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 6/210 3% | 64/1899 3% |
| Cervical Carcinoma | 2/35 6% | 9/422 2% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 23/1390 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 18/810 2% |
| Colorectal Carcinoma | 13/143 9% | 60/3239 2% |
| Other Solid Cancers | 4/94 4% | 22/1515 1% |
| Gastric Carcinoma | 3/74 4% | 26/1809 1% |
| Ovarian Carcinoma | 8/109 7% | 8/998 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Bladder Carcinoma | 0/58 0% | 13/956 1% |
| Neuroendocrine Tumour | 2/154 1% | 7/577 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Biliary Tract Carcinoma | 3/54 6% | 7/950 1% |
| Head and Neck Carcinoma | 1/85 1% | 14/1574 1% |
| Hepatocellular Carcinoma | 1/46 2% | 18/2210 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Other Sarcomas | 1/69 1% | 5/699 1% |
| Breast Carcinoma | 4/144 3% | 22/3264 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Kidney Carcinoma | 2/85 2% | 10/1862 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 12/2550 0% |
| Prostate Carcinoma | 1/13 8% | 10/2105 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Glioma | 1/52 2% | 10/2127 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
Mutation Distribution
Where ERCC5 is mutated · all tissues, split by cell line vs tissue
How many mutations in ERCC5 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 655 mutations in ERCC5
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 |
|---|