NLRP14

NLR family pyrin domain containing 14, the group of NLR family|Pyrin domain containing

Basic information

Region (hg38): 11:7020479-7071526

Previous symbols: [ "NALP14" ]

Links

ENSG00000158077 ∙ NCBI:338323 ∙ OMIM:609665 ∙ HGNC:22939 ∙ Uniprot:Q86W24 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NLRP14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NLRP14 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				4	7	11
missense			62	8	15	85
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					23	23
Total	0	0	62	12	46

Variants in NLRP14

This is a list of pathogenic ClinVar variants found in the NLRP14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-7038518-T-A			Benign (Nov 12, 2018)
11-7038594-A-G		NLRP14-related disorder	Benign (Feb 24, 2019)
11-7038596-T-A		not specified	Uncertain significance (Jun 24, 2022)
11-7038622-T-C		NLRP14-related disorder	Likely benign (Mar 25, 2019)
11-7038634-A-G		NLRP14-related disorder	Benign (Dec 09, 2019)
11-7038647-G-A		NLRP14-related disorder	Likely benign (Apr 09, 2019)
11-7038693-A-T		not specified	Uncertain significance (Apr 12, 2023)
11-7038704-C-A		not specified	Uncertain significance (Mar 12, 2024)
11-7038729-A-C		NLRP14-related disorder	Benign (Jun 09, 2021)
11-7038734-G-T		not specified	Uncertain significance (Oct 12, 2021)
11-7038738-A-G		NLRP14-related disorder	Benign (Jun 13, 2019)
11-7038741-A-G		not specified	Uncertain significance (Feb 16, 2023)
11-7038750-G-A		NLRP14-related disorder	Benign (Jun 10, 2021)
11-7038755-G-A		not specified	Uncertain significance (Aug 13, 2021)
11-7038815-A-G		not specified	Uncertain significance (Feb 28, 2024)
11-7038843-A-T		Spermatogenic Failure	Benign (-)
11-7038861-A-G		NLRP14-related disorder	Benign (Nov 12, 2018)
11-7038874-C-G		not specified	Uncertain significance (Aug 08, 2022)
11-7038903-G-A			not provided (-)
11-7039005-TG-T			Benign (Nov 12, 2018)
11-7039128-AAGGAATTGAGTGAT-A			Benign (Jun 21, 2021)
11-7039439-A-T			Benign (Jun 20, 2021)
11-7039717-C-T		NLRP14-related disorder	Benign (Jun 14, 2019)
11-7039746-A-T		not specified • Spermatogenic Failure • NLRP14-related disorder	Benign (Nov 12, 2018)
11-7039767-G-C		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NLRP14	protein_coding	protein_coding	ENST00000299481	11	50863

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.74e-36	3.03e-7	125096	3	648	125747	0.00259

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.949	588	527	1.12	0.0000253	7235
Missense in Polyphen		137	141.69	0.96693		2145
Synonymous	-2.13	243	204	1.19	0.0000102	1997
Loss of Function	-1.19	49	40.8	1.20	0.00000191	587

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0131	0.0124
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.00388	0.00384
European (Non-Finnish)	0.00249	0.00249
Middle Eastern	0.000109	0.000109
South Asian	0.00144	0.00137
Other	0.00229	0.00228

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in inflammation and spermatogenesis.

Recessive Scores

• pRec: 0.139

Intolerance Scores

• loftool: 0.376
• rvis_EVS: 1.79
• rvis_percentile_EVS: 96.88

Haploinsufficiency Scores

• pHI: 0.0591
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.191

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Nlrp14

Gene ontology

• Biological process: multicellular organism development;spermatogenesis;cell differentiation
• Cellular component: cytoplasm
• Molecular function: ATP binding