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
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of DDX39A mRNAincreases expression 19774075
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of DDX39A mRNAdecreases expression 20382639
D016572 Cyclosporine Cyclosporine results in increased expression of DDX39A mRNAincreases expression 20106945
D014212 Tretinoin Tretinoin results in decreased expression of DDX39A mRNAdecreases expression 16249480
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000505 Alopecia Tretinoin 3.9415955085
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.2018218290 18057881 20041841
MESH:D001169 Arthritis, Experimental Tretinoin 3.3016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3316292516
MESH:D001249 Asthma Tretinoin 2.4316456186
MESH:D001281 Atrial Fibrillation Amiodarone 4.2019698954 18651412
MESH:D001471 Barrett Esophagus Tretinoin 4.9116935849
MESH:D001778 Blood Coagulation Disorders Amiodarone 10.7019483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.7016197459 16206674
MESH:D001943 Breast Neoplasms Tretinoin 2.2316873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.2216813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.8816168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3716051514 16096774
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0019225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.7218974383
MESH:D002386 Cataract Tretinoin 3.3017460283
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4420889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.4412371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.2216129372
MESH:D002779 Cholestasis Cyclosporine 3.2119486331
MESH:D002822 Choriocarcinoma Tretinoin 5.8816461808
MESH:D002972 Cleft Palate Tretinoin 2.809407595
MESH:D003092 Colitis Tretinoin 4.2617035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8316925845 9125849 9211117 17551590 9224671 9664655 9142499 10589399 8800419 14991402
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4715265979 18218290
MESH:D004489 Edema, Cardiac Tretinoin 5.1918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3516569247
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005124 Eye Abnormalities Tretinoin 3.879664655 16938888
MESH:D005234 Fatty Liver Amiodarone 9.2814986274
MESH:D005234 Fatty Liver Cyclosporine 9.2819224547
MESH:D005355 Fibrosis Cyclosporine 10.6212168785 12639820
MESH:D005355 Fibrosis Tretinoin 10.6217994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D005909 Glioblastoma Tretinoin 3.2417312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.8816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0714991402 9664655
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006529 Hepatomegaly Amiodarone 4.3115265979
MESH:D006930 Hyperalgesia Tretinoin 3.5316870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.309751232 8137927
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.1316778211
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007037 Hypothyroidism Amiodarone 5.0818020914 17991464
MESH:D007410 Intestinal Diseases Tretinoin 4.3317994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.3315992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.548314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D007938 Leukemia Tretinoin 2.9317143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1216932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1216294345 19850784 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3917506722 17107899 16935935 16788101 17368321 9834237 16140955 17649720 12679006 16823087 19225113 16891316 17301526 17294898 19029980 17361223 17217047 17712046 16766008 19075265 15748426 16331271 17339181 19642359 19035177
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.589224671
MESH:D008064 Lipidoses Amiodarone 3.7915342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008133 Long QT Syndrome Amiodarone 3.8915350150 11989578 17391786
MESH:D008171 Lung Diseases Amiodarone 3.6212587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.2018516814
MESH:D008527 Medulloblastoma Tretinoin 2.9117453147
MESH:D008545 Melanoma Tretinoin 1.9816752155
MESH:D008591 Meningomyelocele Tretinoin 4.9916940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009181 Mycoses Amiodarone 5.6212754197 17974566
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2817596541
MESH:D009369 Neoplasms Tretinoin 2.5716594593 16946489
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6519348381 18481113
MESH:D009421 Nervous System Malformations Tretinoin 4.289125849
MESH:D009436 Neural Tube Defects Tretinoin 3.299142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4416936753
MESH:D010146 Pain Tretinoin 3.2416870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5715976015
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011507 Proteinuria Tretinoin 4.0716636307
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D011625 Pterygium Tretinoin 5.4216723453
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9712490602 12832656 11597910
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.5616283617 16116481
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.7218724381
MESH:D012878 Skin Neoplasms Tretinoin 2.7616467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013276 Stomach Ulcer Amiodarone 3.7418087811
MESH:D013610 Tachycardia Amiodarone 4.8011238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.7019225199
MESH:D013959 Thyroid Diseases Amiodarone 5.4819731979
MESH:D013964 Thyroid Neoplasms Tretinoin 3.3316026305 17045167
MESH:D013971 Thyrotoxicosis Amiodarone 5.4218020914 19584973
MESH:D014062 Tongue Neoplasms Tretinoin 4.1816051514
MESH:D016171 Torsades de Pointes Amiodarone 4.8211989578 17467628
MESH:D014376 Tuberculosis Tretinoin 3.4516040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.0716129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.3316752155
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014820 Vitiligo Tretinoin 4.5616761959
MESH:D009396 Wilms Tumor Tretinoin 4.3416287080
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
No data
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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


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