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 | 768 | 105 | 629 |
| Samples | 376 | 63 | 298 |
| Peptides | 330 | 51 | 272 |
Function
ERCC6L · ERCC excision repair 6 like, spindle assembly checkpoint helicase
This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017].
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 329 amino-acid changes on canonical ENST00000334463 · 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 ERCC6L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ERCC6L – 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 |
|---|---|---|
| Endometrial Carcinoma | 5/42 12% | 28/612 5% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Melanoma | 1/210 0% | 44/1899 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Colorectal Carcinoma | 13/143 9% | 39/3239 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 11/752 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Biliary Tract Carcinoma | 0/54 0% | 12/950 1% |
| Ovarian Carcinoma | 4/109 4% | 9/998 1% |
| Other Solid Cancers | 3/94 3% | 15/1515 1% |
| Gastric Carcinoma | 1/74 1% | 19/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 6/810 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 6/1390 0% |
| Glioma | 0/52 0% | 15/2127 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Breast Carcinoma | 5/144 3% | 17/3264 1% |
| Other Sarcomas | 0/69 0% | 5/699 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Head and Neck Carcinoma | 0/85 0% | 10/1574 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 13/2550 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Meningioma | 1/3 33% | 0/252 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
Mutation Distribution
Where ERCC6L is mutated · all tissues, split by cell line vs tissue
How many mutations in ERCC6L 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 768 mutations in ERCC6L
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 |
|---|