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 | 892 | 100 | 786 |
| Samples | 290 | 30 | 258 |
| Peptides | 265 | 33 | 230 |
Function
C1orf112 · FIGNL1-interacting regulator of recombination and mitosis
Forms a complex with FIGL1, which regulates DNA double-strand break (DSB) repair via homologous recombination (HR) (PubMed:29608566, PubMed:37256941, PubMed:37347663, PubMed:37515771, PubMed:37556550, PubMed:38286805). The FIGNL1-FIRRM complex is essential for resolution of homologous recombination intermediates in response to DNA interstrand cross-links (ICLs) (PubMed:37256941, PubMed:37347663, PubMed:37515771, PubMed:37556550, PubMed:38286805). The complex regulates HR by promoting disassembly of RAD51 filaments from DNA and chromatin, thereby preventing DNA damage-independent RAD51 loading and persistent DNA accumulation of RAD51 recombinases (PubMed:37256941, PubMed:37347663, PubMed:37515771, PubMed:37556550, PubMed:38286805). It also regulates HR during meiosis by promoting dissociation of DMC1 filaments from DNA (By similarity). Within the complex, provides the ATPase activity to disassemble DMC1 and RAD51 filaments, while FIRRM directly binds single-stranded DNA to facilitate this unloading (PubMed:37556550). Independently of FIRRM, slso acts as a regulator of PLK1 kinase activity at kinetochores that promotes faithful chromosome segregation in prometaphase by bridging kinase and phosphatase activities (PubMed:34260926). Phosphorylation of FIRRM by PLK1 negatively regulates its interaction with the phosphatase, PPP1CC, thus creating a negative feedback loop for maintaining proper PLK1 kinase activity during mitosis (PubMed:34260926)
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000286031 | Q9NSG2 | 300 | 239 |
| ENST00000359326 | Q9NSG2 | 300 | 239 |
| ENST00000413811 | Q9NSG2-3 | 189 | 155 |
| ENST00000472795 | A0A1B0GUP7* | 53 | 45 |
| ENST00000496973 | A0A1B0GV14* | 50 | 37 |
Gene Properties
Recurrent Mutations
All 239 amino-acid changes on canonical ENST00000286031 · 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 C1orf112 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in C1orf112 – 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% | 5/133 4% |
| Endometrial Carcinoma | 1/42 2% | 23/612 4% |
| Cervical Carcinoma | 2/35 6% | 9/422 2% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 13/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Melanoma | 0/210 0% | 23/1899 1% |
| Gastric Carcinoma | 0/74 0% | 18/1809 1% |
| Colorectal Carcinoma | 6/143 4% | 26/3239 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Non-Cancerous | 0/104 0% | 7/830 1% |
| Other Solid Cancers | 1/94 1% | 10/1515 1% |
| Hepatocellular Carcinoma | 0/46 0% | 14/2210 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Head and Neck Carcinoma | 0/85 0% | 10/1574 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 15/2550 1% |
| Ovarian Carcinoma | 1/109 1% | 5/998 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Breast Carcinoma | 3/144 2% | 14/3264 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Glioma | 0/52 0% | 10/2127 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 5/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 8/2534 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
Mutation Distribution
Where C1orf112 is mutated · all tissues, split by cell line vs tissue
How many mutations in C1orf112 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 892 mutations in C1orf112
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 |
|---|