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 | 2,917 | 434 | 2,453 |
| Samples | 830 | 183 | 638 |
| Peptides | 638 | 124 | 535 |
Function
NPC1L1 · NPC1 like intracellular cholesterol transporter 1
The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000381160 | A0A0C4DFX6* | 899 | 608 |
| ENST00000289547 | Q9UHC9 | 795 | 580 |
| ENST00000546276 | A0A0C4DGG6* | 763 | 553 |
| ENST00000423141 | Q9UHC9-3 | 460 | 322 |
Gene Properties
Recurrent Mutations
All 580 amino-acid changes on canonical ENST00000289547 · 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 NPC1L1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NPC1L1 – 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 | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 39/612 6% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Melanoma | 19/210 9% | 126/1899 7% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 26/304 9% | 39/1390 3% |
| Hodgkins Lymphoma | 4/16 25% | 1/122 1% |
| Colorectal Carcinoma | 26/143 18% | 79/3239 2% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Other Solid Cancers | 4/94 4% | 37/1515 2% |
| Gastric Carcinoma | 7/74 9% | 40/1809 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 19/810 2% |
| Cervical Carcinoma | 2/35 6% | 9/422 2% |
| Ovarian Carcinoma | 10/109 9% | 16/998 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Neuroendocrine Tumour | 7/154 5% | 8/577 1% |
| Bladder Carcinoma | 0/58 0% | 20/956 2% |
| Thyroid Gland Carcinoma | 2/45 4% | 25/1592 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 9/752 1% |
| Other Sarcomas | 6/69 9% | 4/699 1% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 25/2550 1% |
| Esophageal Carcinoma | 1/23 4% | 8/769 1% |
| Glioma | 3/52 6% | 21/2127 1% |
| Head and Neck Carcinoma | 5/85 6% | 12/1574 1% |
| Biliary Tract Carcinoma | 2/54 4% | 8/950 1% |
| Adrenocortical Carcinoma | 1/3 33% | 0/112 0% |
| B-Cell Non-Hodgkins Lymphoma | 8/88 9% | 11/2534 0% |
Mutation Distribution
Where NPC1L1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NPC1L1 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 2,917 mutations in NPC1L1
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 |
|---|