AutismKB 2.0

Annotation Detail for EPN3


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Basic Information Top
Gene Symbol:EPN3 ( FLJ20778,MGC129899 )
Gene Full Name: epsin 3
Band: 17q21.33
Quick LinksEntrez ID:55040; OMIM: 607264; Uniprot ID:EPN3_HUMAN; ENSEMBL ID: ENSG00000049283; HGNC ID: 18235
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of EPN3 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EPN3 mRNAincreases expression 17557909
D015025 Zearalenone Zearalenone results in decreased expression of EPN3 mRNAdecreases expression 19371625
C030110 oxaliplatin oxaliplatin results in increased expression of EPN3 mRNAincreases expression 16510598
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in increased expression of EPN3 mRNAincreases expression 17616710
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:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1317333356 16919318 15861022 17681005 11677210 17110522 16105132
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.7420423518
MESH:D003110 Colonic Neoplasms oxaliplatin 3.2216024531 16510598 16004971
MESH:D015179 Colorectal Neoplasms oxaliplatin 2.9418509181 17401013 17695437 18448328 17594712 17255274
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6618071297 17562736 14986274 15619225 10774834 11529661 15968718 12594235 16781746 14550746 14725611 19164858 16177239 18713872 19416960 19420014 16081117 12392966 12705907 11739529 16109766 11743745 17906064 16393943 16227642 12540782 11421492 16485898 11461765 2444490 19085960 19923254 11834606 19370779 17522070 19739265 12958197 12153990 10663392 10915739 11287661
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6312538720
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1815345470
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006930 Hyperalgesia Acetaminophen 9.0216870215
MESH:D006930 Hyperalgesia oxaliplatin 9.0217418472
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.6912969438 16610002 19460945 16611625 19014921 12587719 19784758 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
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:D011537 Pruritus Ethinyl Estradiol 3.8516919318 15861022
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 5.4815864552
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:04144 Endocytosis
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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