AutismKB 2.0

Annotation Detail for NBEAL1


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Basic Information Top
Gene Symbol:NBEAL1 ( A530083I02Rik,ALS2CR16,ALS2CR17,FLJ22838,FLJ26555,MGC164581,MGC168834 )
Gene Full Name: neurobeachin-like 1
Band: 2q33.2
Quick LinksEntrez ID:65065; OMIM: 609816; Uniprot ID:NBEL1_HUMAN; ENSEMBL ID: ENSG00000144426; HGNC ID: 20681
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
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