AutismKB 2.0

Annotation Detail for MUSTN1


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Basic Information Top
Gene Symbol:MUSTN1 ( DKFZp686G21125,Mustang )
Gene Full Name: musculoskeletal, embryonic nuclear protein 1
Band: 3p21.1
Quick LinksEntrez ID:389125; OMIM: NA; Uniprot ID:MSTN1_HUMAN; ENSEMBL ID: ENSG00000213533,ENSG00000243696; HGNC ID: 22144
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
18Nuclear localization signal (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_205853
  • Location:chr3 52842178-52844118
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 52842743 52843487 744 0
hScc1 BcellGSE12603 52842920 52843237 317 0
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


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