AutismKB 2.0

Annotation Detail for SAE1


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Basic Information Top
Gene Symbol:SAE1 ( AOS1,FLJ3091,HSPC140,SUA1,UBLE1A )
Gene Full Name: SUMO1 activating enzyme subunit 1
Band: 19q13.32
Quick LinksEntrez ID:10055; OMIM: 613294; Uniprot ID:SAE1_HUMAN; ENSEMBL ID: ENSG00000142230; HGNC ID: 30660
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04120Ubiquitin mediated proteolysis
No data
No data
Pathway IDPathway Name
P00060Ubiquitin proteasome pathway
No data
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 SAE1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of SAE1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SAE1 mRNAaffects expression 16483693
D004642 Emodin Emodin results in decreased expression of SAE1 mRNAdecreases expression 16045814
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
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:D003490 Cyanosis 2,6-dinitrotoluene 4.5818551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.0221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0212705907 17562736 16227642 14725611 17522070 16485898 19420014 16781746 19416960 12153990 19085960 19739265 16109766 2444490 12958197 19923254 14986274 12540782 10774834 11287661 12392966 17906064 11461765 11743745 11834606 11529661 16081117 19164858 18071297 16393943 16177239 11739529 15968718 10663392 11421492 10915739 12594235 18713872 14550746 15619225 19370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D005355 Fibrosis Emodin 5.3619474275
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.3216705839
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Emodin 5.4517077332
MESH:D008106 Liver Cirrhosis, Experimental Emodin 3.1015288473
MESH:D008107 Liver Diseases Acetaminophen 1.7019014921 16611625 19460945 12587719 12969438 11587558 19784758 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.277678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.772876784 2876786 6135515
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.497678174 18551238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8316049721
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7918551238
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
Pathway ID Pathway Name
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162402387
    • No data
    No data
    Releated drug ID Related drug Name
    PA164744376adenosine monophosphate
    PA164743471adenosine triphosphate
    Drug Bank 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


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