AutismKB 2.0

Annotation Detail for DDHD2


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Basic Information Top
Gene Symbol:DDHD2 ( KIAA0725,SAMWD1 )
Gene Full Name: DDHD domain containing 2
Band: 8p11.23
Quick LinksEntrez ID:23259; OMIM: NA; Uniprot ID:DDHD2_HUMAN; ENSEMBL ID: ENSG00000085788; HGNC ID: 29106
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
447Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015214
  • Location:chr8 38208263-38238142
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68minusFBSGSE20725 38207617 38208676 1059 117
Rb GrowingGSE19898 38207875 38208075 200 289
Rb QuiescentGSE19898 38207741 38208274 533 256
Rb SenescentGSE19898 38207856 38208332 476 170
hScc1 BcellGSE12603 38207896 38208527 631 52
p130 QuiescentGSE19898 38207838 38208277 439 206
p130 SenescentGSE19898 38207799 38208165 366 282
p130 shRbQuiescentGSE19898 38207809 38208385 576 167
p130 shRbSenescentGSE19898 38207921 38208302 381 152
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38208005 38208942 937 0
H3ac HepG2E 38209049 38209750 701 0
hScc1 CdLSGSE12603 38207934 38209251 1317 0
hScc1 G2GSE9613 38208005 38208942 937 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