AutismKB 2.0

Annotation Detail for ESYT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ESYT1 ( FAM62A,KIAA0747,MBC2 )
Gene Full Name: extended synaptotagmin-like protein 1
Band: 12q13.2
Quick LinksEntrez ID:23344; OMIM: NA; Uniprot ID:ESYT1_HUMAN; ENSEMBL ID: ENSG00000139641; HGNC ID: 29534
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ESYT1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of ESYT1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ESYT1 mRNAaffects expression 16483693
D008727 Methotrexate ESYT1 protein affects the susceptibility to Methotrexateaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 4.8712039119
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1717286800
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Methotrexate 3.0716978400
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9616705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.963084413
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.036135515
MESH:D019465 Craniofacial Abnormalities Methotrexate 2.679562676 12039119
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5818551238
MESH:D003550 Cystic Fibrosis Methotrexate 4.6319747007
MESH:D003882 Dermatomyositis Methotrexate 5.6320191521
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.0218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0216081117 10915739 11461765 11287661 19085960 12705907 15968718 18071297 16781746 19164858 16177239 12594235 17906064 10663392 14725611 17562736 12958197 16227642 11421492 10774834 19416960 14986274 16109766 11834606 19739265 11739529 17522070 19370779 15619225 19923254 16485898 19420014 12540782 12153990 11743745 2444490 18713872 16393943 12392966 11529661 14550746
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006086 Graft vs Host Disease Methotrexate 5.7116518429
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.3216705839
MESH:D007805 Language Development Disorders Methotrexate 5.579562676
MESH:D008103 Liver Cirrhosis Methotrexate 3.8914986274
MESH:D008107 Liver Diseases Acetaminophen 1.7019014921 16610002 19784758 12969438 19460945 16611625 12587719 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6316871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.277678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.772876784 2876786 6135515
MESH:D017563 Lung Diseases, Interstitial Methotrexate 5.7418516814
MESH:D008223 Lymphoma Methotrexate 4.2217352296
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D052016 Mucositis Methotrexate 5.9117488658
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.4918551238 7678174
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8316049721
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D011565 Psoriasis Methotrexate 3.5417410198
MESH:D051437 Renal Insufficiency Methotrexate 5.2717352296
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7918551238
MESH:D013576 Syndactyly Methotrexate 5.549562676
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.9510091137
MESH:D014581 Urticaria Acetaminophen 3.4410982225
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (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