AutismKB 2.0

Annotation Detail for OTOP3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OTOP3 ( - )
Gene Full Name: otopetrin 3
Band: 17q25.1
Quick LinksEntrez ID:347741; OMIM: 607828; Uniprot ID:OTOP3_HUMAN; ENSEMBL ID: ENSG00000182938; HGNC ID: 19658
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
21Phosphoserine.
23Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_178233
  • Location:chr17 70443491-70457104
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 70442675 70442997 322 656
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 70448820 70449391 571 0
H3K27me3 colorectalcancer 70445060 70445876 816 0
NRSF JurkatGSE13047 70445103 70445780 677 0
NRSF mAbJurkat 70445060 70446538 1478 0
NRSF mAbJurkat 70446895 70447537 642 0
NRSF-mono JurkatQuESTdata 70445139 70445779 640 0
NRSF-poly JurkatQuESTdata 70445156 70445697 541 0
Oct1 HelaGSE14283 70452096 70452134 38 0
p63 keratinocytesGSE17611 70451323 70452466 1143 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