AutismKB 2.0

Annotation Details for PYDC1


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Basic Information Top
Gene Symbol:PYDC1 ( ASC2,POP1,PYC1 )
Gene Full Name: PYD (pyrin domain) containing 1
Band: 16p11.2
Quick LinksEntrez ID:260434; OMIM: NA; Uniprot ID:PYDC1_HUMAN; ENSEMBL ID: ENSG00000169900; HGNC ID: 30261
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus12656673
GO:0005829IDA-cytosol12656673
GO:0008385IDA-IkappaB kinase complex12656673
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding12656673
GO ID Evidence Qualifier GO_term References
GO:0006469IDA-negative regulation of protein kinase activity12656673
GO:0010804IMP-negative regulation of tumor necrosis factor-mediated signaling pathway24871464
GO:0032088IDA-negative regulation of NF-kappaB transcription factor activity12656673
GO:0032088IMPNOTnegative regulation of NF-kappaB transcription factor activity24871464
GO:0033209IDA-tumor necrosis factor-mediated signaling pathway12656673
GO:0045087IDA-innate immune response12656673
GO:0050713IMPNOTnegative regulation of interleukin-1 beta secretion24871464
GO:0050718IDA-positive regulation of interleukin-1 beta secretion12656673
GO:1900226IMPNOTnegative regulation of NLRP3 inflammasome complex assembly24871464
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top

Simple Query:


  (e.g. CHD8)

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