AutismKB 2.0

Annotation Detail for HHATL


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Basic Information Top
Gene Symbol:HHATL ( C3orf3,GUP1,KIAA1173,MBOAT3,MSTP002,OACT3 )
Gene Full Name: hedgehog acyltransferase-like
Band: 3p22.1
Quick LinksEntrez ID:57467; OMIM: 608116; Uniprot ID:HHATL_HUMAN; ENSEMBL ID: ENSG00000010282; HGNC ID: 13242
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_020707
  • Location:chr3 42709159-42718016
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 42720272 42721167 895 2703
NRSF JurkatGSE13047 42717018 42720640 3622 813
NRSF mAbJurkat 42719669 42721658 1989 2647
NRSF-mono JurkatQuESTdata 42717016 42719030 2014 7
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 42710633 42710782 149 0
CTCF G2GSE9613 42713760 42714060 300 0
CTCF G2GSE9613 42714993 42715224 231 0
CTCF G2GSE9613 42716117 42716477 360 0
NRSF mAbJurkat 42710248 42713436 3188 0
NRSF mAbJurkat 42714538 42716477 1939 0
NRSF mAbJurkat 42716975 42718591 1616 0
NRSF-poly JurkatQuESTdata 42716569 42718856 2287 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