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
Post Translation Modification Top
Location(AA) Modification
35Phosphoserine.
570Phosphotyrosine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032129
  • Location:chr1 891739-900340
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 909473 909766 293 9279
CTCF CD4SISSRdata 909473 909766 293 9279
CTCF JurkatGSE12889 909389 909685 296 9197
Rb GrowingGSE19898 911841 911986 145 11573
TFAP2C MCF7GSE21234 901475 902068 593 1431
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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