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 | 928 | 130 | 793 |
| Samples | 461 | 85 | 373 |
| Peptides | 329 | 62 | 274 |
Function
PCSK1 · Proprotein convertase subtilisin/kexin type 1
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 initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014].
Isoforms & Proteins
2 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 323 amino-acid changes on canonical ENST00000311106 · 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 PCSK1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PCSK1 – 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 |
|---|---|---|
| Melanoma | 12/210 6% | 115/1899 6% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 20/612 3% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Other Solid Cancers | 3/94 3% | 29/1515 2% |
| Colorectal Carcinoma | 12/143 8% | 47/3239 1% |
| Bladder Carcinoma | 3/58 5% | 11/956 1% |
| Cervical Carcinoma | 2/35 6% | 4/422 1% |
| Other Sarcomas | 4/69 6% | 5/699 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 8/810 1% |
| Neuroendocrine Tumour | 6/154 4% | 1/577 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 12/1390 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Glioma | 0/52 0% | 14/2127 1% |
| Hepatocellular Carcinoma | 1/46 2% | 13/2210 1% |
| Pancreatic Carcinoma | 2/89 2% | 8/1611 0% |
| Kidney Carcinoma | 0/85 0% | 10/1862 1% |
| Esophageal Carcinoma | 2/23 9% | 2/769 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Head and Neck Carcinoma | 1/85 1% | 7/1574 0% |
| Ovarian Carcinoma | 2/109 2% | 3/998 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 1/752 0% |
| Breast Carcinoma | 2/144 1% | 11/3264 0% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 6/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Prostate Carcinoma | 0/13 0% | 7/2105 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
Mutation Distribution
Where PCSK1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PCSK1 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 928 mutations in PCSK1
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 |
|---|