AutismKB 2.0

Annotation Detail for BEND3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BEND3 ( KIAA1553,RP11-59I9.2 )
Gene Full Name: BEN domain containing 3
Band: 6q21
Quick LinksEntrez ID:57673; OMIM: NA; Uniprot ID:BEND3_HUMAN; ENSEMBL ID: ENSG00000178409; HGNC ID: 23040
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
164Phosphoserine.
489Phosphoserine.
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

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