AutismKB 2.0

Annotation Detail for DDX50


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DDX50 ( GU2,GUB,MGC3199,RH-II/GuB )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 50
Band: 10q22.1
Quick LinksEntrez ID:79009; OMIM: 610373; Uniprot ID:DDX50_HUMAN; ENSEMBL ID: ENSG00000107625; HGNC ID: 17906
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45Phosphoserine.
82Phosphoserine.
165Q motif.
293DEVD box.
Location(AA) Modifications Resource
45Phosphoserine.Swiss-Prot 53.0
45PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
22Phosphoserine(ATM)HMM predict
35Phosphoserine(PKG)HMM predict
39SulfotyrosineHMM predict
45Phosphoserine(CK1)HMM predict
64Phosphoserine(PKG)HMM predict
86Phosphoserine(CK1)HMM predict
104Phosphotyrosine(Syk)HMM predict
113Phosphoserine(CK1)HMM predict
239Phosphoserine(PKG)HMM predict
314Phosphothreonine(CK2)HMM predict
355Phosphothreonine(PKC)HMM predict
361Phosphothreonine(PKC)HMM predict
401N-linkedHMM predict
425Phosphoserine(ATM)HMM predict
613Phosphoserine(PKG)HMM predict
641Phosphoserine(PKC)HMM predict
667SulfotyrosineHMM predict
671N-linkedHMM predict
675N-linkedHMM predict
705Phosphoserine(PKG)HMM predict
709Phosphoserine(IKK)HMM predict
725N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024045
  • Location:chr10 70331039-70376607
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70327318 70327518 200 3622
CTCF CD4SISSRdata 70327318 70327518 200 3622
Fos K562GSE19551 70330337 70331652 1315 45
GABP HelaGSE8489 70329063 70330168 1105 1424
GABP k562GSE8489 70328742 70330424 1682 1457
H3ac HepG2E 70330061 70330529 468 745
HIF1 HypoHepG2 70330567 70331327 760 93
PHF8 293TGSE20725 70330008 70331699 1691 186
PHF8 HeLaGSE20725 70330231 70331720 1489 64
PHF8 Hs68minusFBSGSE20725 70330149 70331723 1574 104
PHF8 Hs68plusFBSGSE20725 70329963 70331865 1902 126
TAF k562GSE8489 70328742 70330492 1750 1423
hScc1 BcellGSE12603 70327189 70327584 395 3653
hScc1 CdLSGSE12603 70327001 70327584 583 3747
hScc1 G2GSE9613 70327153 70327584 431 3671
p130 QuiescentGSE19898 70330281 70330889 608 455
p130 SenescentGSE19898 70330332 70331521 1189 113
p130 shRbSenescentGSE19898 70330415 70331516 1101 74
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 70331327 70331926 599 0
H3ac HepG2E 70332459 70332859 400 0
Rb shRbSenescenceGSE19898 70331338 70331545 207 0
TAF k562GSE8489 70331371 70331926 555 0
TFAP2C MCF7GSE21234 70330941 70331341 400 0
p130 QuiescentGSE19898 70330939 70331387 448 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