AutismKB 2.0

Annotation Detail for DOCK8


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Basic Information Top
Gene Symbol:DOCK8 ( FLJ00026,FLJ00152,FLJ00346,MRD2,ZIR8 )
Gene Full Name: dedicator of cytokinesis 8
Band: 9p24.3
Quick LinksEntrez ID:81704; OMIM: 611432; Uniprot ID:DOCK8_HUMAN; ENSEMBL ID: ENSG00000107099; HGNC ID: 19191
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Hyper-IgE recurrent infection syndrome, autosomal recessive
Mental retardation, autosomal dominant 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of DOCK8 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of DOCK8 mRNAdecreases expression 20064835
C071834 glycidamide glycidamide results in decreased expression of DOCK8 mRNAdecreases expression 17822822
C006253 pirinixic acid pirinixic acid results in decreased expression of DOCK8 mRNAdecreases expression 18445702
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002779 Cholestasis pirinixic acid 3.1219176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D002658 Developmental Disabilities marker/mechanism
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6710663392 15619225 12153990 17562736 17906064 12594235 10915739 11529661 19739265 19164858 11287661 14550746 19416960 18713872 11421492 19370779 12958197 19420014 12705907 16485898 14986274 11739529 11461765 11743745 16081117 12540782 16177239 2444490 18071297 19923254 10774834 12392966 11834606 16393943 15968718 16781746 14725611 16109766 19085960 16227642 17522070
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005234 Fatty Liver pirinixic acid 3.1920131406 19236843
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006529 Hepatomegaly pirinixic acid 3.5518467677 16221962 19772884 19176532
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
OMIM:243700 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE marker/mechanism
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.7016610002 19014921 16611625 12969438 12587719 19460945 19784758 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7721137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 4.7715890375 20007298 16377806
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5720064080 20464547 20869020 18569708 6695378 18816296 18520028 20135361 17053015
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008607 Mental Retardation marker/mechanism
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3911141357
MESH:D009369 Neoplasms pirinixic acid 5.3917405874
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5210029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3017053015
MESH:D014581 Urticaria Acetaminophen 3.4410982225
Pathway ID Pathway Name
REACT:604 Hemostasis
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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


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