AutismKB 2.0

Annotation Detail for SPEF1


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Basic Information Top
Gene Symbol:SPEF1 ( C20orf28,CLAMP,DKFZp434I114,SPEF1A )
Gene Full Name: sperm flagellar 1
Band: 20p13
Quick LinksEntrez ID:25876; OMIM: 610674; Uniprot ID:SPEF1_HUMAN; ENSEMBL ID: ENSG00000101222; HGNC ID: 15874
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 SPEF1 mRNAaffects expression 17562736
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 5.2610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8610977129
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6916109766 18713872 15619225 11739529 11834606 16393943 15968718 16781746 16081117 19923254 16177239 2444490 17522070 12392966 11421492 19739265 10774834 11743745 12958197 11529661 19420014 11287661 14986274 19164858 19085960 19416960 17906064 11461765 16227642 17562736 16485898 19370779 14725611 10663392 12594235 18071297 14550746 10915739 12540782 12153990 12705907
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.5119426721
MESH:D005756 Gastritis Acetaminophen 5.0916983495
MESH:D006930 Hyperalgesia Acetaminophen 3.1516870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4715629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.7212587719 12969438 16610002 19784758 19460945 19014921 16611625 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.8117185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.4719513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3618514411
MESH:D010146 Pain Acetaminophen 2.8716870215
MESH:D014581 Urticaria Acetaminophen 3.6710982225
No data
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  (e.g. CHD8)

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