AutismKB 2.0

Annotation Detail for DDX39


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Basic Information Top
Gene Symbol:DDX39 ( BAT1,BAT1L,DDXL,MGC18203,MGC8417,URH49 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 39
Band: 19p13.12
Quick LinksEntrez ID:10212; OMIM: NA; Uniprot ID:DDX39_HUMAN; ENSEMBL ID: ENSG00000123136; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
13Phosphotyrosine(INSR)HMM predict
13SulfotyrosineHMM predict
25O-linkedHMM predict
265Phosphotyrosine(Jak)HMM predict
327Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005804
  • Location:chr19 14380630-14391170
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 14390775 14391782 1007 108
LIN9 SGSE7516 14390995 14391585 590 120
Nanog hESGSE18292 14395419 14395623 204 4351
PHF8 Hs68plusFBSGSE20725 14390566 14391908 1342 67
p130 QuiescentGSE19898 14391281 14391767 486 354
p130 SenescentGSE19898 14390819 14391742 923 110
p130 shRbQuiescentGSE19898 14390877 14391894 1017 215
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 14390773 14391094 321 0
H3ac HepG2E 14390588 14390885 297 0
TAF k562GSE8489 14390588 14390773 185 0
hScc1 BcellGSE12603 14385022 14385443 421 0
hScc1 BcellGSE12603 14390656 14391241 585 0
p130 SenescentGSE19898 14390051 14390267 216 0
p130 shRbSenescentGSE19898 14383860 14384005 145 0
p130 shRbSenescentGSE19898 14389961 14390214 253 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