AutismKB 2.0

Annotation Details for PLEKHG1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PLEKHG1 ( ARHGEF41,FLJ31738,KIAA1209 )
Gene Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 1
Band: 6q25.1
Quick LinksEntrez ID:57480; OMIM: NA; Uniprot ID:PKHG1_HUMAN; ENSEMBL ID: ENSG00000120278; HGNC ID: 20884
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus-
GO:0005654IDA-nucleoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005089IEA-Rho guanyl-nucleotide exchange factor activity-
GO ID Evidence Qualifier GO_term References
GO:0035023IEA-regulation of Rho protein signal transduction-
GO:0043547IEA-positive regulation of GTPase activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2676551
  • Data Attributes: MGI curated and 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