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 | 600 | 111 | 482 |
| Samples | 527 | 103 | 418 |
| Peptides | 420 | 70 | 357 |
Function
NPC1 · NPC intracellular cholesterol transporter 1
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009].
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 |
|---|---|---|---|
| ENST00000269228 | O15118 | 600 | 420 |
Gene Properties
Recurrent Mutations
All 420 amino-acid changes on canonical ENST00000269228 · 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 NPC1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NPC1 – 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-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Chordoma | 0/7 0% | 1/13 8% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 4/42 10% | 22/612 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Melanoma | 1/210 0% | 65/1899 3% |
| Colorectal Carcinoma | 27/143 19% | 61/3239 2% |
| Gastric Carcinoma | 4/74 5% | 30/1809 2% |
| Bladder Carcinoma | 3/58 5% | 14/956 1% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 12/1390 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Other Solid Cancers | 2/94 2% | 20/1515 1% |
| Non-Cancerous | 1/104 1% | 11/830 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Hepatocellular Carcinoma | 0/46 0% | 23/2210 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 6/810 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 22/2550 1% |
| Meningioma | 0/3 0% | 2/252 1% |
| Head and Neck Carcinoma | 2/85 2% | 11/1574 1% |
| Kidney Carcinoma | 8/85 9% | 7/1862 0% |
| Ovarian Carcinoma | 2/109 2% | 6/998 1% |
| Pancreatic Carcinoma | 1/89 1% | 11/1611 1% |
| Biliary Tract Carcinoma | 0/54 0% | 7/950 1% |
| Breast Carcinoma | 0/144 0% | 24/3264 1% |
| Neuroendocrine Tumour | 5/154 3% | 0/577 0% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
Mutation Distribution
Where NPC1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NPC1 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 600 mutations in NPC1
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 |
|---|