AutismKB 2.0

Annotation Details for PHLDB1


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Basic Information Top
Gene Symbol:PHLDB1 ( DKFZp686H039,DKFZp686O24210,FLJ00141,FLJ90266,KIAA0638,LL5A,MGC111531 )
Gene Full Name: pleckstrin homology-like domain, family B, member 1
Band: 11q23.3
Quick LinksEntrez ID:23187; OMIM: 612834; Uniprot ID:PHLB1_HUMAN; ENSEMBL ID: ENSG00000019144; HGNC ID: 23697
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0045180IDA-basal cortex23940118
No data
GO ID Evidence Qualifier GO_term References
GO:0010470IMP-regulation of gastrulation23940118
GO:0010717IMP-regulation of epithelial to mesenchymal transition23940118
GO:0070507IGI-regulation of microtubule cytoskeleton organization23940118
GO:1904261IGI-positive regulation of basement membrane assembly involved in embryonic body morphogenesis23940118
GO:1904261IMP-positive regulation of basement membrane assembly involved in embryonic body morphogenesis23940118
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2143230
  • Data Attributes: HomoloGene calculated
No data
No data

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