Hs03362171_cn

• Gene Symbol: NLRP3
• Assay Reference Genome Location: Chr.1:247416142 on build GRCh38
• Cytoband: 1q44

Target Gene Details

• Entrez Gene ID: 114548
• Gene Name: NLR family pyrin domain containing 3
• Gene Aliases: AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCAS1, FCU, MWS, NALP3, PYPAF1
• Location: Chr.1:247416156-247449108 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NLRP3	NM_001079821.2			NP_001073289.1
	NM_001127461.2			NP_001120933.1
	XM_011544048.2			XP_011542350.1
	XM_011544053.2			XP_011542355.1
	XM_011544055.2			XP_011542357.1
	XM_017000181.1			XP_016855670.1
	XM_017000182.1			XP_016855671.1
	XM_017000183.1			XP_016855672.1
	XM_017000184.1			XP_016855673.1
	AK314998.1
	AL601856.1
	DA244290.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833137	Chr.1:247274015 - 247444126 on Build GRCh38	Gain	LOC107985115 NLRP3 ZNF496
esv33129	Chr.1:246911128 - 248165533 on Build GRCh38	Gain+Loss	LOC107985115 OR2M5 OR2C3 ZNF496 OR11L1 OR1C1 OR14A16 ZNF669 ZNF124 OR2G3 OR2M1P ZNF670-ZNF695 OR2AK2 GCSAML-AS1 OR2L5 OR9H1P OR6F1 VN1R5 OR2L2 AHCTF1 NLRP3 OR2T8 GCSAML OR2W5 C1orf229 ZNF670 OR13G1 OR2L8 ZNF695 OR2B11 OR2L13 TRIM58 OR2L3 MIR3916 OR2G2 OR2L1P OR2W3
nsv1011097	Chr.1:247402897 - 247503209 on Build GRCh38	Gain	NLRP3 OR2B11 OR2W5
nsv509790	Chr.1:247311000 - 247445876 on Build GRCh38	Insertion	LOC107985115 NLRP3 ZNF496

More Information

Additional Information:

For this assay, SNP(s) [rs79255773] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-motor microtubule binding protein

Gene Ontology Categories:

Process(es)

negative regulation of acute inflammatory response
positive regulation of type 2 immune response
transcription, DNA-templated
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
defense response
inflammatory response
signal transduction
detection of biotic stimulus
negative regulation of NF-kappaB transcription factor activity
interleukin-1 beta production
interleukin-18 production
positive regulation of interleukin-13 production
positive regulation of interleukin-4 production
positive regulation of interleukin-5 production
negative regulation of NF-kappaB import into nucleus
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
NLRP3 inflammasome complex assembly
innate immune response
positive regulation of T-helper 2 cell differentiation
positive regulation of transcription from RNA polymerase II promoter
interleukin-1 secretion
negative regulation of interleukin-1 beta secretion
positive regulation of interleukin-1 beta secretion
negative regulation of inflammatory response
positive regulation of NF-kappaB transcription factor activity
protein oligomerization
defense response to virus
cellular response to lipopolysaccharide
positive regulation of T-helper 17 cell differentiation
positive regulation of T-helper 2 cell cytokine production

Function(s)

protein binding
ATP binding
transcription factor binding
peptidoglycan binding
sequence-specific DNA binding