AutismKB 2.0

Annotation Detail for SMCHD1


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Basic Information Top
Gene Symbol:SMCHD1 ( DKFZp686O0631,KIAA0650 )
Gene Full Name: structural maintenance of chromosomes flexible hinge domain containing 1
Band: 18p11.32
Quick LinksEntrez ID:23347; OMIM: NA; Uniprot ID:SMHD1_HUMAN; ENSEMBL ID: ENSG00000101596; HGNC ID: 29090
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
599Phosphotyrosine.
609Phosphotyrosine.
1349N6-acetyllysine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-210 hsa-mir-210 11 19826008
No data
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