AutismKB 2.0

Annotation Detail for DDX53


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Basic Information Top
Gene Symbol:DDX53 ( CAGE,CT26 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
Band: Xp22.11
Quick LinksEntrez ID:168400; OMIM: NA; Uniprot ID:DDX53_HUMAN; ENSEMBL ID: ENSG00000184735; HGNC ID: 20083
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
250Q motif.
379DEAD box.
Location(AA) Modifications Resource
Location(AA) Modification Resource
46O-linkedHMM predict
124Phosphoserine(CK1)HMM predict
130Phosphoserine(ATM)HMM predict
132Phosphothreonine(MAPK)HMM predict
202N-linkedHMM predict
250Phosphoserine(ATM)HMM predict
286Phosphoserine(ATM)HMM predict
303Phosphothreonine(MAPK)HMM predict
457Phosphothreonine(PKC)HMM predict
590N-linkedHMM predict
615Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_182699
  • Location:chrX 22928007-22930124
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 22947479 22947846 367 17538
Oct1 HelaGSE14283 22935949 22935976 27 5838
No data
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