AutismKB 2.0

Annotation Detail for ANKLE2


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Basic Information Top
Gene Symbol:ANKLE2 ( FLJ22280,FLJ36132,KIAA0692,LEMD7 )
Gene Full Name: ankyrin repeat and LEM domain containing 2
Band: 12q24.33
Quick LinksEntrez ID:23141; OMIM: NA; Uniprot ID:ANKL2_HUMAN; ENSEMBL ID: ENSG00000176915; HGNC ID: 29101
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
259Phosphoserine.
268Phosphoserine.
487Phosphoserine.
488Phosphoserine.
496Phosphoserine.
512Phosphoserine.
528Phosphoserine.
662Phosphoserine.
896Phosphoserine.
914Phosphoserine.
919Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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