AutismKB 2.0

Annotation Detail for SLC5A8


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Basic Information Top
Gene Symbol:SLC5A8 ( AIT,MGC125354,SMCT,SMCT1 )
Gene Full Name: solute carrier family 5 (iodide transporter), member 8
Band: 12q23.1-q23.2
Quick LinksEntrez ID:160728; OMIM: 608044; Uniprot ID:SC5A8_HUMAN; ENSEMBL ID: ENSG00000139357; HGNC ID: 19119
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
485N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_145913
  • Location:chr12 100073408-100128119
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 100117833 100118132 299 0
CTCF G2GSE9613 100089613 100091041 1428 0
CTCF G2GSE9613 100091296 100091665 369 0
CTCF G2GSE9613 100127551 100127924 373 0
ER E2-MCF7GSE14664 100080895 100080928 33 0
Oct1 HelaGSE14283 100080896 100080934 38 0
Oct1 HelaGSE14283 100100419 100100472 53 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