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 | 877 | 140 | 728 |
| Samples | 411 | 90 | 316 |
| Peptides | 307 | 58 | 256 |
Function
GEN1 · GEN1 structure-specific endonuclease
This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016].
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 307 amino-acid changes on canonical ENST00000381254 · 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 GEN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GEN1 – 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 | 10/42 24% | 27/612 4% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Bladder Carcinoma | 4/58 7% | 15/956 2% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 10/810 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 21/1390 2% |
| Colorectal Carcinoma | 12/143 8% | 42/3239 1% |
| Melanoma | 3/210 1% | 25/1899 1% |
| Esophageal Carcinoma | 3/23 13% | 7/769 1% |
| Gastric Carcinoma | 3/74 4% | 18/1809 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Ovarian Carcinoma | 4/109 4% | 7/998 1% |
| Hepatocellular Carcinoma | 2/46 4% | 18/2210 1% |
| Burkitts Lymphoma | 0/32 0% | 2/196 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Non-Cancerous | 1/104 1% | 7/830 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 14/1592 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 16/2550 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Head and Neck Carcinoma | 1/85 1% | 11/1574 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Other Blood Cancers | 1/61 2% | 12/2725 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 8/2534 0% |
Mutation Distribution
Where GEN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in GEN1 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 877 mutations in GEN1
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 |
|---|