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 | 354 | 64 | 275 |
| Samples | 330 | 59 | 262 |
| Peptides | 261 | 38 | 216 |
Function
NCSTN · Nicastrin
This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000294785 | Q92542 | 350 | 257 |
| ENST00000421914 | Q5T209* | 3 | 3 |
| ENST00000699538 | A0A8V8TNI3* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 257 amino-acid changes on canonical ENST00000294785 · 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 NCSTN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NCSTN – 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 |
|---|---|---|
| Chordoma | 2/7 29% | 0/13 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 17/612 3% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 5/210 2% | 34/1899 2% |
| Bladder Carcinoma | 3/58 5% | 13/956 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 21/1390 2% |
| Colorectal Carcinoma | 6/143 4% | 38/3239 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 9/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Gastric Carcinoma | 0/74 0% | 19/1809 1% |
| Other Sarcomas | 0/69 0% | 6/699 1% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 10/1592 1% |
| Ovarian Carcinoma | 2/109 2% | 6/998 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Neuroendocrine Tumour | 1/154 1% | 4/577 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 16/2550 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 4/2534 0% |
| Breast Carcinoma | 2/144 1% | 9/3264 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Head and Neck Carcinoma | 2/85 2% | 2/1574 0% |
Mutation Distribution
Where NCSTN is mutated · all tissues, split by cell line vs tissue
How many mutations in NCSTN 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 354 mutations in NCSTN
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 |
|---|