Hs05478884_cn

• Gene Symbol: NLRP1
• Assay Reference Genome Location: Chr.17:5509095 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 22861
• Gene Name: NLR family pyrin domain containing 1
• Gene Aliases: CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, NAC, NALP1, PP1044, SLEV1, VAMAS1
• Location: Chr.17:5501399-5584512 on Build GRCh38
• Assay Gene Location: Within Intron 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NLRP1	NM_001033053.2			NP_001028225.1
	AK026398.1			BAB15470.1
	AL832400.1
	BP391071.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1956	Chr.17:5470460 - 5509582 on Build GRCh38	Deletion	NLRP1 DERL2 LOC728392 MIS12
dgv884e212	Chr.17:5496610 - 5516416 on Build GRCh38	Loss	NLRP1 LOC728392

More Information

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

Gene Ontology Categories:

Process(es)

apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
inflammatory response
response to muramyl dipeptide
defense response to bacterium
innate immune response
positive regulation of interleukin-1 beta secretion
regulation of inflammatory response
neuron apoptotic process

Function(s)

protein binding
ATP binding
cysteine-type endopeptidase activator activity involved in apoptotic process
enzyme binding
protein domain specific binding