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 | 544 | 43 | 495 |
| Samples | 180 | 14 | 164 |
| Peptides | 157 | 16 | 143 |
Function
C12orf66 · KICSTOR subunit 2
As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose
Isoforms & Proteins
3 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 143 amino-acid changes on canonical ENST00000398055 · 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 C12orf66 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in C12orf66 – 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% | 6/133 5% |
| Endometrial Carcinoma | 1/42 2% | 11/612 2% |
| Bladder Carcinoma | 0/58 0% | 12/956 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 6/810 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 10/1390 1% |
| Gastric Carcinoma | 1/74 1% | 12/1809 1% |
| Colorectal Carcinoma | 2/143 1% | 20/3239 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 16/2550 1% |
| Melanoma | 0/210 0% | 13/1899 1% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 3/2640 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 2/2534 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
Mutation Distribution
Where C12orf66 is mutated · all tissues, split by cell line vs tissue
How many mutations in C12orf66 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 544 mutations in C12orf66
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 |
|---|