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 | 532 | 172 | 301 |
| Samples | 183 | 122 | 47 |
| Peptides | 215 | 123 | 39 |
Function
NLRP3 · NLR family pyrin domain containing 3
This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020].
Isoforms & Proteins
8 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 |
|---|---|---|---|
| ENST00000336119 | A0A7I2R3P8* | 181 | 156 |
| ENST00000697408 | - | 57 | 56 |
| ENST00000391828 | A0A7I2R3P8* | 54 | 41 |
| ENST00000391827 | A0A7I2PRX0* | 51 | 38 |
| ENST00000643234 | A0A7I2YME5* | 51 | 38 |
| ENST00000366496 | A0A7I2PMC6* | 50 | 37 |
| ENST00000348069 | A0A7I2PJH0* | 49 | 36 |
| ENST00000474792 | A0A7I2UNQ2* | 39 | 30 |
Gene Properties
Recurrent Mutations
All 156 amino-acid changes on canonical ENST00000336119 · 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 NLRP3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NLRP3 – 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-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 31/304 10% | 6/1390 0% |
| Endometrial Carcinoma | 8/42 19% | 4/612 1% |
| Neuroendocrine Tumour | 11/154 7% | 0/577 0% |
| Melanoma | 17/210 8% | 13/1899 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Solid Cancers | 4/94 4% | 6/1515 0% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Colorectal Carcinoma | 12/143 8% | 5/3239 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Other Sarcomas | 3/69 4% | 0/699 0% |
| Gastric Carcinoma | 4/74 5% | 3/1809 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Bladder Carcinoma | 1/58 2% | 2/956 0% |
| Head and Neck Carcinoma | 4/85 5% | 1/1574 0% |
| Neuroblastoma | 2/87 2% | 2/1331 0% |
| Hepatocellular Carcinoma | 4/46 9% | 2/2210 0% |
| Glioma | 1/52 2% | 2/2127 0% |
| Pancreatic Carcinoma | 1/89 1% | 1/1611 0% |
| Non-Cancerous | 1/104 1% | 0/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Kidney Carcinoma | 2/85 2% | 0/1862 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 0/1592 0% |
| Breast Carcinoma | 0/144 0% | 2/3264 0% |
| Prostate Carcinoma | 1/13 8% | 0/2105 0% |
Mutation Distribution
Where NLRP3 is mutated · all tissues, split by cell line vs tissue
How many mutations in NLRP3 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 532 mutations in NLRP3
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 |
|---|