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 | 455 | 78 | 373 |
| Samples | 433 | 76 | 353 |
| Peptides | 248 | 48 | 215 |
Function
CD1C · CD1c molecule
This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000368170 | P29017 | 455 | 248 |
Gene Properties
Recurrent Mutations
All 248 amino-acid changes on canonical ENST00000368170 · 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 CD1C · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CD1C – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Melanoma | 5/210 2% | 97/1899 5% |
| Endometrial Carcinoma | 7/42 17% | 19/612 3% |
| Non-Small Cell Lung Carcinoma | 21/304 7% | 24/1390 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 13/810 2% |
| Other Solid Cancers | 0/94 0% | 31/1515 2% |
| Pancreatic Carcinoma | 2/89 2% | 30/1611 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Gastric Carcinoma | 2/74 3% | 23/1809 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Neuroendocrine Tumour | 5/154 3% | 2/577 0% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Ovarian Carcinoma | 4/109 4% | 6/998 1% |
| Colorectal Carcinoma | 5/143 4% | 25/3239 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 18/2550 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 3/69 4% | 1/699 0% |
| Neuroblastoma | 0/87 0% | 6/1331 0% |
| Hepatocellular Carcinoma | 1/46 2% | 8/2210 0% |
| Breast Carcinoma | 5/144 3% | 8/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Prostate Carcinoma | 1/13 8% | 5/2105 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
Mutation Distribution
Where CD1C is mutated · all tissues, split by cell line vs tissue
How many mutations in CD1C 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 40 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 455 mutations in CD1C
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 |
|---|