NLRP8
protein-codingNLR family pyrin domain containing 8, the group of Pyrin domain containing|NLR family
Gene summary
This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
- NALP8
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~40.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to NLRP8 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 93 | 8 | 1 | 102 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 93 | 10 | 1 | 104 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| Ensembl | ENSP00000291971.3 | 10 | MANE Select | |
| RefSeq | NP_001303929.1 | 10 | Standard | |
| RefSeq | NP_001420635.1 | 10 | Standard | |
| Ensembl | ENSP00000468121.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- molecular_function
- ATP binding
Cellular Component
- cellular_component
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000291971
- Coding exons
- 10
- Length
- 40798
- Individuals with no LoFs
- 124997
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 749
- Defined
- 125747
- p
- 0.00299
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.853 | 638 | 580 | 1.10 | 0.0000326 | 6910 |
| Missense (PolyPhen) | 145 | 137.79 | 1.0523 | 1865 | ||
| Synonymous | -1.42 | 264 | 236 | 1.12 | 0.0000144 | 2009 |
| Loss of Function | 0.212 | 38 | 39.4 | 0.964 | 0.00000189 | 485 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0035 | 0.0035 | notable |
| Latino/Admixed American | 0.0014 | 0.0014 | notable |
| Ashkenazi Jewish | 0.0013 | 0.0013 | notable |
| East Asian | 0.0021 | 0.0021 | notable |
| Finnish | 0.0018 | 0.0018 | notable |
| European (Non-Finnish) | 0.0044 | 0.0044 | notable |
| South Asian | 0.0016 | 0.0016 | notable |
| Other | 0.0020 | 0.0020 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in inflammation. {ECO:0000305}.;
Recessive Scores
- pRec
- 0.0829
Intolerance Scores
- LoFtool
- 0.318
- RVIS EVS
- 1.88
- RVIS percentile EVS
- 97.25
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0710
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |