AutismKB 2.0

Annotation Details for NLRP5


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Basic Information Top
Gene Symbol:NLRP5 ( CLR19.8,MATER,NALP5,PAN11,PYPAF8 )
Gene Full Name: NLR family, pyrin domain containing 5
Band: 19q13.43
Quick LinksEntrez ID:126206; OMIM: 609658; Uniprot ID:NALP5_HUMAN; ENSEMBL ID: ENSG00000171487; HGNC ID: 21269
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005730ISS-nucleolus-
GO:0005739ISS-mitochondrion-
GO:0005829IEA-cytosol-
GO:0043234IEA-protein complex-
GO:0045179IEA-apical cortex-
GO ID Evidence Qualifier GO_term References
GO:0005524IEA-ATP binding-
GO ID Evidence Qualifier GO_term References
GO:0001701IEA-in utero embryonic development-
GO:0007566IEA-embryo implantation-
GO:0009566IEA-fertilization-
GO:0009887IEA-animal organ morphogenesis-
GO:0031647IEA-regulation of protein stability-
GO:0034613IEA-cellular protein localization-
GO:0043487IEA-regulation of RNA stability-
GO:0043623IEA-cellular protein complex assembly-
GO:0070997IMP-neuron death22166940
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1345193
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018