NLRP10
Basic information
Region (hg38): 11:7957536-7965447
Previous symbols: [ "NALP10" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NLRP10 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 3 | |||||
missense | 36 | 36 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 36 | 1 | 3 |
Variants in NLRP10
This is a list of pathogenic ClinVar variants found in the NLRP10 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-7959664-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
11-7959706-T-C | not specified | Uncertain significance (Dec 01, 2022) | ||
11-7959725-A-G | not provided (-) | |||
11-7959736-CCTT-C | not provided (-) | |||
11-7959776-A-T | Benign (Apr 01, 2024) | |||
11-7959964-C-T | not specified | Uncertain significance (Jan 24, 2024) | ||
11-7960011-C-G | not specified | Uncertain significance (Feb 28, 2024) | ||
11-7960033-A-C | not specified | Uncertain significance (May 31, 2023) | ||
11-7960043-T-A | not specified | Uncertain significance (May 30, 2024) | ||
11-7960090-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
11-7960093-T-C | not specified | Uncertain significance (Dec 02, 2022) | ||
11-7960202-C-T | not provided (-) | |||
11-7960204-G-C | not specified | Uncertain significance (Dec 07, 2021) | ||
11-7960231-A-G | not specified | Uncertain significance (Oct 27, 2021) | ||
11-7960246-G-A | not specified | Uncertain significance (Jan 04, 2022) | ||
11-7960261-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
11-7960275-A-G | not specified | Uncertain significance (Mar 26, 2024) | ||
11-7960324-C-T | not specified | Uncertain significance (Jun 18, 2021) | ||
11-7960401-A-C | not specified | Uncertain significance (Nov 03, 2023) | ||
11-7960444-A-G | not specified | Uncertain significance (Jan 03, 2024) | ||
11-7960560-C-T | not specified | Uncertain significance (Dec 05, 2022) | ||
11-7960573-G-C | not specified | Uncertain significance (Jan 02, 2024) | ||
11-7960619-C-T | not provided (-) | |||
11-7960678-T-G | not specified | Uncertain significance (Jul 12, 2022) | ||
11-7960751-G-A | Benign (Feb 20, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NLRP10 | protein_coding | protein_coding | ENST00000328600 | 2 | 6003 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.01e-8 | 0.178 | 125612 | 0 | 134 | 125746 | 0.000533 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.287 | 362 | 347 | 1.04 | 0.0000189 | 4293 |
Missense in Polyphen | 63 | 61.924 | 1.0174 | 914 | ||
Synonymous | -1.20 | 167 | 148 | 1.13 | 0.00000832 | 1277 |
Loss of Function | 0.309 | 13 | 14.3 | 0.912 | 6.88e-7 | 185 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000864 | 0.000857 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000272 | 0.000272 |
Finnish | 0.000139 | 0.000139 |
European (Non-Finnish) | 0.000144 | 0.000141 |
Middle Eastern | 0.000272 | 0.000272 |
South Asian | 0.00287 | 0.00288 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits autoprocessing of CASP1, CASP1-dependent IL1B secretion, PYCARD aggregation and PYCARD-mediated apoptosis but not apoptosis induced by FAS or BID (PubMed:15096476). Displays anti-inflammatory activity (PubMed:20393137). Required for immunity against C.albicans infection (By similarity). Involved in the innate immune response by contributing to proinflammatory cytokine release in response to invasive bacterial infection (PubMed:22672233). Contributes to T-cell-mediated inflammatory responses in the skin (By similarity). Plays a role in protection against periodontitis through its involvement in induction of IL1A via ERK activation in oral epithelial cells infected with periodontal pathogens (PubMed:28766990). Exhibits both ATPase and GTPase activities (PubMed:23861819). {ECO:0000250|UniProtKB:Q8CCN1, ECO:0000269|PubMed:15096476, ECO:0000269|PubMed:20393137, ECO:0000269|PubMed:22672233, ECO:0000269|PubMed:23861819}.;
- Pathway
- Nucleotide-binding Oligomerization Domain (NOD) pathway
(Consensus)
Recessive Scores
- pRec
- 0.103
Intolerance Scores
- loftool
- 0.461
- rvis_EVS
- 0.05
- rvis_percentile_EVS
- 57.52
Haploinsufficiency Scores
- pHI
- 0.115
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.484
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.682
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nlrp10
- Phenotype
- hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- adaptive immune response;positive regulation of T-helper 1 type immune response;inflammatory response;innate immune response;positive regulation of interleukin-1 alpha secretion;positive regulation of inflammatory response;defense response to Gram-negative bacterium;defense response to fungus;positive regulation of defense response to bacterium;positive regulation of T-helper 17 type immune response;positive regulation of interleukin-8 secretion;positive regulation of interleukin-6 secretion
- Cellular component
- cytoplasm;extrinsic component of plasma membrane
- Molecular function
- GTPase activity;ATP binding;ATPase activity