AutismKB 2.0

Annotation Detail for SBSN


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Basic Information Top
Gene Symbol:SBSN ( MGC75533,UNQ698 )
Gene Full Name: suprabasin
Band: 19q13.13
Quick LinksEntrez ID:374897; OMIM: 609969; Uniprot ID:SBSN_HUMAN; ENSEMBL ID: ENSG00000189001; HGNC ID: 24950
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198538
  • Location:chr19 40706110-40711092
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 40707942 40708343 401 0
hScc1 BcellGSE12603 40709499 40709872 373 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