AutismKB 2.0

Annotation Details for PLEKHM1


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Basic Information Top
Gene Symbol:PLEKHM1 ( AP162,B2,KIAA0356,OPTB6 )
Gene Full Name: pleckstrin homology domain containing, family M (with RUN domain) member 1
Band: 17q21.31
Quick LinksEntrez ID:9842; OMIM: 611466; Uniprot ID:PKHM1_HUMAN; ENSEMBL ID: ENSG00000225190; HGNC ID: 29017
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005730IDA-nucleolus-
GO:0005765IEA-lysosomal membrane-
GO:0010008IEA-endosome membrane-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO ID Evidence Qualifier GO_term References
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006914IEA-autophagy-
GO:0015031IEA-protein transport-
GO:0035556IEA-intracellular signal transduction-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
PLEKHM1rs11012 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:2443207
  • 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