AutismKB 2.0

Annotation Detail for DDRGK1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DDRGK1 ( C20orf116,MGC2592,dJ1187M17.3 )
Gene Full Name: DDRGK domain containing 1
Band: 20p13
Quick LinksEntrez ID:65992; OMIM: NA; Uniprot ID:DDRGK_HUMAN; ENSEMBL ID: ENSG00000198171; HGNC ID: 16110
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_023935
  • Location:chr20 3119017-3133294
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 3112388 3113062 674 6293
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 3132957 3133246 289 0
H3ac HepG2E 3130915 3133407 2492 0
HIF1 NormHepG2 3132843 3133481 638 0
PHF8 293TGSE20725 3132386 3133457 1071 0
PHF8 HeLaGSE20725 3132568 3133461 893 0
PHF8 Hs68plusFBSGSE20725 3132603 3133489 886 0
Rb GrowingGSE19898 3132646 3132835 189 0
Rb QuiescentGSE19898 3132430 3132873 443 0
Rb SenescentGSE19898 3132444 3133125 681 0
Rb shRbQuiescentGSE19898 3132635 3132789 154 0
hScc1 BcellGSE12603 3123521 3123868 347 0
hScc1 BcellGSE12603 3131680 3132008 328 0
p130 QuiescentGSE19898 3132492 3132790 298 0
p130 SenescentGSE19898 3132508 3132923 415 0
p130 SenescentGSE19898 3133073 3133325 252 0
p130 shRbQuiescentGSE19898 3132721 3133301 580 0
p130 shRbSenescentGSE19898 3132964 3133377 413 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