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 | 823 | 122 | 686 |
| Samples | 291 | 54 | 230 |
| Peptides | 225 | 36 | 196 |
Function
PNPLA1 · Patatin like domain 1, omega-hydroxyceramide transacylase
The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012].
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 |
|---|---|---|---|
| ENST00000394571 | Q8N8W4 | 289 | 198 |
| ENST00000312917 | Q8N8W4-3 | 256 | 177 |
| ENST00000388715 | Q8N8W4-2 | 252 | 173 |
| ENST00000636260 | A0A1B0GW56* | 26 | 23 |
Gene Properties
Recurrent Mutations
All 198 amino-acid changes on canonical ENST00000394571 · 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 PNPLA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PNPLA1 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Melanoma | 5/210 2% | 48/1899 3% |
| Endometrial Carcinoma | 4/42 10% | 12/612 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Other Solid Cancers | 0/94 0% | 20/1515 1% |
| Bladder Carcinoma | 1/58 2% | 11/956 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 8/810 1% |
| Colorectal Carcinoma | 6/143 4% | 33/3239 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 11/1390 1% |
| Gastric Carcinoma | 4/74 5% | 14/1809 1% |
| Cervical Carcinoma | 3/35 9% | 1/422 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Esophageal Carcinoma | 1/23 4% | 5/769 1% |
| Other Sarcomas | 4/69 6% | 1/699 0% |
| Glioma | 0/52 0% | 14/2127 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Biliary Tract Carcinoma | 1/54 2% | 2/950 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Hepatocellular Carcinoma | 1/46 2% | 5/2210 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Breast Carcinoma | 1/144 1% | 8/3264 0% |
| Other Blood Cancers | 1/61 2% | 6/2725 0% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 1/2550 0% |
Mutation Distribution
Where PNPLA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PNPLA1 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 823 mutations in PNPLA1
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 |
|---|