AutismKB 2.0

Annotation Detail for PLEKHN1


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Basic Information Top
Gene Symbol:PLEKHN1 ( DKFZp434H2010,MGC120613,MGC120616,RP11-54O7.7 )
Gene Full Name: pleckstrin homology domain containing, family N member 1
Band: 1p36.33
Quick LinksEntrez ID:84069; OMIM: NA; Uniprot ID:PKHN1_HUMAN; ENSEMBL ID: ENSG00000187583; HGNC ID: 25284
Relate to Another Database: SFARIGene; denovo-db
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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