AutismKB 2.0

Annotation Detail for SETD2


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Basic Information Top
Gene Symbol:SETD2 ( FLJ16420,FLJ22472,FLJ23184,FLJ45883,FLJ46217,HBP231,HIF-1,HYPB,KIAA1732,KMT3A,SET2,p231HBP )
Gene Full Name: SET domain containing 2
Band: 3p21.31
Quick LinksEntrez ID:29072; OMIM: 612778; Uniprot ID:SETD2_HUMAN; ENSEMBL ID: ENSG00000181555; HGNC ID: 18420
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SETD2 mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of SETD2 mRNAaffects expression 20382639
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 SETD2 mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of SETD2 mRNAdecreases expression 15336504
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SETD2 mRNAaffects expression 17555576
D014810 Vitamin E Vitamin E results in decreased expression of SETD2 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.4116050911
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9620889678
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1311677210 16105132 15861022 17681005 17333356 16919318 17110522
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6617522070 16781746 11529661 16227642 19923254 17906064 12392966 19085960 19420014 14550746 12540782 11739529 19370779 11743745 11421492 15968718 10663392 12705907 16393943 14725611 10774834 16177239 15619225 16081117 16485898 14986274 19164858 10915739 17562736 12153990 12594235 18071297 2444490 11461765 11287661 19739265 16109766 18713872 12958197 11834606 19416960
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:C538011 Eales disease Vitamin E 5.329068938
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6312538720
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1815345470
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1516080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8016490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.5814716179
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007251 Influenza, Human Vitamin E 4.8316624496
MESH:D007674 Kidney Diseases Acetaminophen 6.5812587719 15629191
MESH:D007674 Kidney Diseases Vitamin E 6.5812488133
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9016169303
MESH:D008107 Liver Diseases Acetaminophen 1.6916610002 16611625 19784758 19014921 12587719 19460945 11587558 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008171 Lung Diseases Vitamin E 3.4016863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.8516919318 15861022
MESH:D012871 Skin Diseases Vitamin E 2.5118709164
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.838532709
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D020521 Stroke Vitamin E 3.8116517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9115869587 14671159
Pathway ID Pathway Name
KEGG:00310 Lysine degradation
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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