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 | 636 | 72 | 554 |
| Samples | 159 | 26 | 127 |
| Peptides | 158 | 19 | 135 |
Function
PSEN1 · Presenilin 1
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008].
Isoforms & Proteins
7 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 130 amino-acid changes on canonical ENST00000324501 · 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 PSEN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PSEN1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 3/42 7% | 14/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 4/210 2% | 15/1899 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 9/1390 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 4/810 0% |
| Bladder Carcinoma | 2/58 3% | 6/956 1% |
| Colorectal Carcinoma | 2/143 1% | 18/3239 1% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Other Solid Cancers | 1/94 1% | 4/1515 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Breast Carcinoma | 0/144 0% | 7/3264 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Prostate Carcinoma | 2/13 15% | 1/2105 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 3/2640 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
Mutation Distribution
Where PSEN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PSEN1 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 636 mutations in PSEN1
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 |
|---|