AutismKB 2.0

Annotation Detail for ATP6V1E1


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Basic Information Top
Gene Symbol:ATP6V1E1 ( ATP6E,ATP6E2,ATP6V1E,P31,Vma4 )
Gene Full Name: ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
Band: 22q11.21
Quick LinksEntrez ID:529; OMIM: 108746; Uniprot ID:VATE1_HUMAN; ENSEMBL ID: ENSG00000131100; HGNC ID: 857
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04145Phagosome
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa04966Collecting duct acid secretion
hsa00190Oxidative phosphorylation
hsa01100Metabolic pathways
hsa05110Vibrio cholerae infection
Pathway IDPathway Name
Signaling by Insulin receptor
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of ATP6V1E1 mRNAaffects expression 17562736
D007657 Ketone Bodies Ketone Bodies results in increased expression of ATP6V1E1 mRNAincreases expression 16807920
D010665 Phenylpropanolamine Phenylpropanolamine results in decreased expression of ATP6V1E1 mRNAdecreases expression 16465460
C025299 polyphenols polyphenols results in decreased expression of ATP6V1E1 mRNAdecreases expression 16293270
C021751 tanshinone tanshinone results in increased expression of ATP6V1E1 mRNAincreases expression 15849732
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D000855 Anorexia Phenylpropanolamine 6.0817684035
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms tanshinone 3.5919885617 15849732
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D003110 Colonic Neoplasms polyphenols 2.7216293270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.2816485898 11461765 12594235 14725611 15619225 18713872 17562736 10663392 2444490 11529661 12958197 11743745 11834606 19739265 19370779 11739529 16227642 19416960 19923254 16781746 11421492 16177239 16393943 15968718 12392966 19085960 10774834 12705907 19420014 17906064 12153990 11287661 12540782 16109766 17522070 10915739 14986274 18071297 19164858 16081117 14550746
MESH:D056486 Drug-Induced Liver Injury polyphenols 4.2819370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005910 Glioma tanshinone 4.1416955220
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D017379 Hypertrophy, Left Ventricular tanshinone 5.5919662366
MESH:D007249 Inflammation polyphenols 3.2216366677
MESH:D007674 Kidney Diseases Acetaminophen 2.3812587719 15629191
MESH:D008107 Liver Diseases Acetaminophen 4.4019784758 16611625 19014921 12969438 11587558 12587719 16610002 19460945
MESH:D008107 Liver Diseases polyphenols 4.4016698588
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:D013705 Temporomandibular Joint Disorders polyphenols 5.8617997062
MESH:D014581 Urticaria Acetaminophen 3.3810982225
Pathway ID Pathway Name
KEGG:04966 Collecting duct acid secretion
KEGG:05120 Epithelial cell signaling in Helicobacter pylori infection
KEGG:01100 Metabolic pathways
KEGG:00190 Oxidative phosphorylation
KEGG:04145 Phagosome
KEGG:05323 Rheumatoid arthritis
REACT:498 Signaling by Insulin receptor
REACT:15518 Transmembrane transport of small molecules
KEGG:05110 Vibrio cholerae infection
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