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 | 2,129 | 289 | 1,833 |
| Samples | 1,007 | 178 | 825 |
| Peptides | 661 | 105 | 589 |
Function
NLRP4 · NLR family pyrin domain containing 4
The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016].
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 646 amino-acid changes on canonical ENST00000301295 · 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 NLRP4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NLRP4 – 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 | 20/210 10% | 170/1899 9% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 38/612 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Other Solid Cancers | 4/94 4% | 74/1515 5% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 37/810 5% |
| Non-Small Cell Lung Carcinoma | 30/304 10% | 44/1390 3% |
| Colorectal Carcinoma | 14/143 10% | 98/3239 3% |
| Cervical Carcinoma | 4/35 11% | 10/422 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 20/752 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Ovarian Carcinoma | 10/109 9% | 14/998 1% |
| Neuroendocrine Tumour | 11/154 7% | 4/577 1% |
| Esophageal Carcinoma | 2/23 9% | 14/769 2% |
| Bladder Carcinoma | 1/58 2% | 19/956 2% |
| Head and Neck Carcinoma | 1/85 1% | 31/1574 2% |
| Gastric Carcinoma | 2/74 3% | 33/1809 2% |
| Glioma | 1/52 2% | 37/2127 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 32/2550 1% |
| Biliary Tract Carcinoma | 2/54 4% | 12/950 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Burkitts Lymphoma | 1/32 3% | 2/196 1% |
| Non-Cancerous | 4/104 4% | 7/830 1% |
| Other Sarcomas | 3/69 4% | 6/699 1% |
| Pancreatic Carcinoma | 4/89 4% | 15/1611 1% |
| Hepatocellular Carcinoma | 4/46 9% | 17/2210 1% |
Mutation Distribution
Where NLRP4 is mutated · all tissues, split by cell line vs tissue
How many mutations in NLRP4 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 17 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 2,129 mutations in NLRP4
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 |
|---|