AutismKB 2.0

Annotation Details for PCDHGB1


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Basic Information Top
Gene Symbol:PCDHGB1 ( MGC119466,MGC119467,MGC119469,PCDH-GAMMA-B1 )
Gene Full Name: protocadherin gamma subfamily B, 1
Band: 5q31
Quick LinksEntrez ID:56104; OMIM: 606299; Uniprot ID:PCDGD_HUMAN; ENSEMBL ID: ENSG00000081853,ENSG00000240184,ENSG00000240764,EN; HGNC ID: 8708
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005887IBA-integral component of plasma membrane-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1935169
  • Data Attributes: MGI curated and HomoloGene calculated

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