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 | 410 | 84 | 322 |
| Samples | 387 | 78 | 305 |
| Peptides | 279 | 54 | 234 |
Function
PCSK9 · Proprotein convertase subtilisin/kexin type 9
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014].
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 |
|---|---|---|---|
| ENST00000302118 | Q8NBP7 | 410 | 279 |
Gene Properties
Recurrent Mutations
All 279 amino-acid changes on canonical ENST00000302118 · 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 PCSK9 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PCSK9 – 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% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 15/612 2% |
| Melanoma | 3/210 1% | 56/1899 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Ovarian Carcinoma | 5/109 5% | 14/998 1% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 11/1390 1% |
| Colorectal Carcinoma | 7/143 5% | 42/3239 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 23/1592 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Non-Cancerous | 0/104 0% | 10/830 1% |
| Other Solid Cancers | 2/94 2% | 15/1515 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Gastric Carcinoma | 3/74 4% | 13/1809 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Neuroendocrine Tumour | 3/154 2% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Meningioma | 1/3 33% | 0/252 0% |
Mutation Distribution
Where PCSK9 is mutated · all tissues, split by cell line vs tissue
How many mutations in PCSK9 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 410 mutations in PCSK9
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 |
|---|