AutismKB 2.0

Annotation Detail for JPH4


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Basic Information Top
Gene Symbol:JPH4 ( FLJ34253,JP4,JPHL1,KIAA1831 )
Gene Full Name: junctophilin 4
Band: 14q11.2
Quick LinksEntrez ID:84502; OMIM: NA; Uniprot ID:JPH4_HUMAN; ENSEMBL ID: ENSG00000092051; HGNC ID: 20156
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 JPH4 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 1.6914725611 12392966 10915739 17562736 19416960 15619225 18071297 10774834 11461765 12540782 16081117 11739529 17906064 11743745 16109766 14550746 12958197 2444490 11287661 19420014 19085960 18713872 19739265 19923254 16177239 16393943 12705907 12594235 16227642 16485898 12153990 10663392 11834606 11529661 14986274 19164858 16781746 19370779 11421492 15968718 17522070
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 1.7219014921 11587558 12969438 16610002 19784758 16611625 19460945 12587719
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