AutismKB 2.0

Annotation Detail for SPEF2


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Basic Information Top
Gene Symbol:SPEF2 ( CT122,FLJ23164,FLJ23577,FLJ25395,KIAA1770,KPL2,MGC102842 )
Gene Full Name: sperm flagellar 2
Band: 5p13.2
Quick LinksEntrez ID:79925; OMIM: 610172; Uniprot ID:SPEF2_HUMAN; ENSEMBL ID: ENSG00000152582; HGNC ID: 26293
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of SPEF2 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SPEF2 mRNAaffects expression 16483693
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.4418287403
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.3118057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 4.2718651412 19698954
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.4519483382
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0215710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.9718974383
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4915265979 18218290
MESH:D005234 Fatty Liver Amiodarone 4.0714986274
MESH:D006529 Hepatomegaly Amiodarone 4.5115265979
MESH:D006937 Hypercholesterolemia Amiodarone 4.429751232 8137927
MESH:D007037 Hypothyroidism Amiodarone 5.2817991464 18020914
MESH:D008064 Lipidoses Amiodarone 3.8517567588 15342952
MESH:D008133 Long QT Syndrome Amiodarone 3.9617391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.6812587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.5518516814
MESH:D009181 Mycoses Amiodarone 5.9717974566 12754197
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9912832656 11597910 12490602
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.9718724381
MESH:D013276 Stomach Ulcer Amiodarone 3.8618087811
MESH:D013610 Tachycardia Amiodarone 4.9611238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.8619225199
MESH:D013959 Thyroid Diseases Amiodarone 5.8319731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.6218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 5.0817467628 11989578
No data
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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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