AutismKB 2.0

Annotation Detail for DEF6


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Basic Information Top
Gene Symbol:DEF6 ( IBP,SLAT,SWAP70L )
Gene Full Name: differentially expressed in FDCP 6 homolog (mouse)
Band: 6p21.31
Quick LinksEntrez ID:50619; OMIM: 610094; Uniprot ID:DEFI6_HUMAN; ENSEMBL ID: ENSG00000023892; HGNC ID: 2760
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
200165Regulation of RAC1 activity
200050Regulation of RhoA activity
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of DEF6 mRNAincreases expression 16788091
D000082 Acetaminophen Acetaminophen affects the expression of DEF6 mRNAaffects expression 17562736
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.9110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8310977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6811529661 19416960 12392966 11461765 16393943 18713872 19370779 18071297 17562736 12705907 19420014 12153990 14550746 16109766 10663392 14986274 16485898 14725611 19164858 19739265 11739529 12594235 12540782 16781746 10774834 17906064 11743745 16227642 10915739 19085960 11834606 16081117 11421492 12958197 15619225 17522070 11287661 16177239 15968718 19923254 2444490
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.1719426721
MESH:D005756 Gastritis Acetaminophen 4.7416983495
MESH:D006930 Hyperalgesia Acetaminophen 3.1116870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4415629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.7119014921 12969438 19460945 16611625 12587719 19784758 16610002 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.7417185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.3319513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3118514411
MESH:D010146 Pain Acetaminophen 2.8216870215
MESH:D014581 Urticaria Acetaminophen 3.5810982225
No data
Pharmacogenomics Knowledge Base Top
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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