AutismKB 2.0

Annotation Detail for HELQ


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Basic Information Top
Gene Symbol:HELQ ( HEL308,MGC20604 )
Gene Full Name: helicase, POLQ-like
Band: 4q21.23
Quick LinksEntrez ID:113510; OMIM: 606769; Uniprot ID:HELQ_HUMAN; ENSEMBL ID: ENSG00000163312; HGNC ID: 18536
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_133636
  • Location:chr4 84547524-84596048
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 NormHepG2 84595775 84596450 675 64
Oct4 hESGSE17917 84595926 84596304 378 67
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 84529313 84529591 278 18073
Oct4 hESGSE21916 84530306 84531069 763 16837
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 84595703 84596232 529 0
H3K4me3 colorectalcancer 84594920 84595860 940 0
Oct1 H2O2-HelaGSE14283 84588062 84588089 27 0
Oct1 HelaGSE14283 84581879 84581965 86 0
Oct1 HelaGSE14283 84587224 84587286 62 0
P300 T30-glioblastomaGSE21026 84595233 84596811 1578 0
PHF8 293TGSE20725 84595308 84596562 1254 0
TAF HelaGSE8489 84591243 84591402 159 0
TAF HelaGSE8489 84591882 84592058 176 0
USF1 HepG2E 84594920 84596918 1998 0
USF2 HepG2E 84594920 84596892 1972 0
p130 SenescentGSE19898 84595510 84596445 935 0
p130 shRbQuiescentGSE19898 84595499 84596377 878 0
p130 shRbSenescentGSE19898 84595402 84596484 1082 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