AutismKB 2.0

Annotation Detail for VPS54


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Basic Information Top
Gene Symbol:VPS54 ( HCC8,SLP-8p,VPS54L,hVps54L )
Gene Full Name: vacuolar protein sorting 54 homolog (S. cerevisiae)
Band: 2p15-p14
Quick LinksEntrez ID:51542; OMIM: NA; Uniprot ID:VPS54_HUMAN; ENSEMBL ID: ENSG00000143952; HGNC ID: 18652
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of VPS54 mRNAaffects expression 17562736
C014949 acetylhydrazine acetylhydrazine results in decreased expression of VPS54 mRNAdecreases expression 15282401
D000643 Ammonium Chloride Ammonium Chloride affects the expression of VPS54 mRNAaffects expression 16483693
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of VPS54 mRNAdecreases expression 19150397
D011374 Progesterone Progesterone inhibits the reaction [VPS54 gene mutant form results in decreased activity of CHAT protein]decreases activity|decreases reaction 17052708
D011374 Progesterone Progesterone inhibits the reaction [VPS54 gene mutant form results in decreased expression of BDNF mRNA]decreases expression|decreases reaction 17052708
D011374 Progesterone Progesterone inhibits the reaction [VPS54 gene mutant form results in decreased expression of CHAT protein]decreases expression|decreases reaction 17052708
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.9517868700
MESH:D001930 Brain Injuries Progesterone 4.7415665606 15845082 15380490
MESH:D001943 Breast Neoplasms Progesterone 2.4117614352 16175315 15562024
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9620889678
MESH:D003929 Diabetic Neuropathies Progesterone 4.9817187935
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6614550746 11421492 18713872 12705907 17906064 16485898 18071297 17562736 11743745 12958197 12153990 16109766 11287661 10774834 10663392 19164858 12540782 12392966 10915739 16177239 11739529 19420014 11529661 11461765 19085960 15968718 19370779 19416960 2444490 15619225 16227642 11834606 16781746 14725611 17522070 16393943 19923254 16081117 14986274 12594235 19739265
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.2217692515
MESH:D004715 Endometriosis Progesterone 4.1116134523
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.8915869954
MESH:D007249 Inflammation Progesterone 2.7515869954
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 16611625 12587719 19014921 16610002 12969438 11587558 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.0717203775 11408345
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D010051 Ovarian Neoplasms Progesterone 2.6117393432 16525653
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9518045962
MESH:D013119 Spinal Cord Injuries Progesterone 4.8216503802 15862959
MESH:D014581 Urticaria Acetaminophen 3.3810982225
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