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 | 1,621 | 298 | 1,309 |
| Samples | 857 | 178 | 672 |
| Peptides | 734 | 145 | 607 |
Function
ERCC6 · ERCC excision repair 6, chromatin remodeling factor
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016].
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 |
|---|---|---|---|
| ENST00000355832 | Q03468 | 776 | 541 |
| ENST00000447839 | P0DP91 | 422 | 317 |
| ENST00000515869 | P0DP91 | 422 | 317 |
| ENST00000681659 | A0A7P0T9G4* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 541 amino-acid changes on canonical ENST00000355832 · 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 ERCC6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ERCC6 – 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 | 5/54 9% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 44/612 7% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Melanoma | 12/210 6% | 84/1899 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 21/304 7% | 45/1390 3% |
| Colorectal Carcinoma | 23/143 16% | 108/3239 3% |
| Gastric Carcinoma | 8/74 11% | 62/1809 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 20/810 2% |
| Bladder Carcinoma | 7/58 12% | 20/956 2% |
| Chondrosarcoma | 1/14 7% | 1/75 1% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Other Solid Cancers | 5/94 5% | 26/1515 2% |
| Cervical Carcinoma | 0/35 0% | 8/422 2% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Neuroendocrine Tumour | 3/154 2% | 9/577 2% |
| Breast Carcinoma | 14/144 10% | 38/3264 1% |
| Non-Cancerous | 0/104 0% | 14/830 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Hepatocellular Carcinoma | 2/46 4% | 28/2210 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 17/1592 1% |
| Esophageal Carcinoma | 2/23 9% | 7/769 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 25/2550 1% |
| Ovarian Carcinoma | 7/109 6% | 5/998 0% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Head and Neck Carcinoma | 0/85 0% | 16/1574 1% |
| Glioma | 0/52 0% | 20/2127 1% |
Mutation Distribution
Where ERCC6 is mutated · all tissues, split by cell line vs tissue
How many mutations in ERCC6 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 1,621 mutations in ERCC6
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 |
|---|