AutismKB 2.0

Annotation Detail for ASPA


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Basic Information Top
Gene Symbol:ASPA ( ACY2,ASP )
Gene Full Name: aspartoacylase
Band: 17p13.2
Quick LinksEntrez ID:443; OMIM: 608034; Uniprot ID:ACY2_HUMAN; ENSEMBL ID: ENSG00000108381; HGNC ID: 756
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00250Alanine, aspartate and glutamate metabolism
hsa00340Histidine metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00074Canavan disease
Inherited disorders of amino acid metabolism
Genetic disorders
No data
No data
No data
Desease Name
Canavan disease
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C025205 1,10-phenanthroline 1,10-phenanthroline results in decreased activity of ASPA proteindecreases activity 17027983
D000082 Acetaminophen Acetaminophen affects the expression of ASPA mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of ASPA proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ASPA mRNAaffects expression 16483693
D016572 Cyclosporine Cyclosporine results in decreased expression of ASPA mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of ASPA mRNAdecreases expression 18042831
D004041 Dietary Fats Dietary Fats results in increased expression of ASPA mRNAincreases expression 18042831
D004492 Edetic Acid Edetic Acid results in decreased activity of ASPA proteindecreases activity 17027983
D005419 Flavonoids Flavonoids results in decreased expression of ASPA mRNAdecreases expression 18035473
C437127 O,O-diethylphosphorylcholine iodide O,O-diethylphosphorylcholine iodide results in decreased activity of ASPA proteindecreases activity 17027983
C041786 palm oil palm oil results in decreased expression of ASPA mRNAdecreases expression 18042831
C041786 palm oil palm oil results in increased expression of ASPA mRNAincreases expression 18042831
D010634 Phenobarbital Phenobarbital results in increased expression of ASPA mRNAincreases expression 19270015
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ASPA mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of ASPA mRNAincreases expression 18301758
C025299 polyphenols polyphenols results in decreased expression of ASPA mRNAdecreases expression 16293270
D015032 Zinc Zinc binds to ASPA proteinaffects binding 17194761
17027983
D015032 Zinc Zinc binds to ASPA proteinaffects binding 17194761
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.526195326
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D000169 Acrodermatitis Zinc 5.4917190629 16889938 17202136
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.4017620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.4016434500
MESH:D000544 Alzheimer Disease Zinc 2.7616325427 16580781 17119284 16410023
MESH:D000755 Anemia, Sickle Cell Zinc 4.9716916123
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D001161 Arteriosclerosis Dietary Fats 3.9615238619
MESH:D001249 Asthma Zinc 2.9717085522
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2019483382
MESH:D001930 Brain Injuries Zinc 4.7617109824
MESH:D001943 Breast Neoplasms Dietary Fats 2.2820435547
MESH:D017825 Canavan Disease marker/mechanism 17027983 17194761
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.603084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.6021507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.601701930 17173139 6705139 20007298 20935162
MESH:D002294 Carcinoma, Squamous Cell Zinc 2.9116543248
MESH:D002318 Cardiovascular Diseases Zinc 3.6916936243
MESH:D002386 Cataract Acetaminophen 2.6110977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.5612371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.324080065
MESH:D002779 Cholestasis Cyclosporine 7.8919486331
MESH:D002779 Cholestasis pirinixic acid 7.8919176532
MESH:D003110 Colonic Neoplasms polyphenols 2.6816293270
MESH:D019465 Craniofacial Abnormalities Zinc 2.4319302082
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003920 Diabetes Mellitus Zinc 4.2516479319
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.0510915739 16109766 19085960 17562736 15968718 19420014 17522070 15619225 11421492 12958197 17906064 16393943 11287661 19370779 19739265 12594235 10774834 14986274 16485898 11834606 12540782 2444490 11739529 16227642 10663392 16177239 19416960 12392966 11461765 16081117 12153990 19164858 16781746 19923254 14550746 12705907 14725611 11529661 18071297 11743745 18713872
MESH:D056486 Drug-Induced Liver Injury polyphenols 4.0519370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D050171 Dyslipidemias Dietary Fats 3.4918367378
MESH:D004421 Dystonia Phenobarbital 4.061851702
MESH:D004487 Edema pirinixic acid 2.5312083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.183659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.9711558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.596401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.327750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.103659116
MESH:D004938 Esophageal Neoplasms Zinc 2.8716543248
MESH:D005234 Fatty Liver Cyclosporine 13.3819224547
MESH:D005234 Fatty Liver Dietary Fats 13.3817967931 19004024 18296743 19551842
MESH:D005234 Fatty Liver pirinixic acid 13.3819236843 20131406
MESH:D005355 Fibrosis Cyclosporine 8.9412639820 12168785
MESH:D005355 Fibrosis Dietary Fats 8.9418296743
MESH:D005756 Gastritis Acetaminophen 11.5016983495
MESH:D005756 Gastritis Zinc 11.5017241300
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.308708960
MESH:D006130 Growth Disorders Zinc 3.9917217573
MESH:D006333 Heart Failure pirinixic acid 7.2520558911
MESH:D006333 Heart Failure Zinc 7.2517162251
MESH:D006335 Heart Injuries Zinc 5.8717074742
MESH:D016481 Helicobacter Infections Zinc 4.5917241300
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5015720958
MESH:D006527 Hepatolenticular Degeneration Zinc 4.7617276780
MESH:D006529 Hepatomegaly Phenobarbital 8.7216109766
MESH:D006529 Hepatomegaly pirinixic acid 8.7216221962 19176532 18467677 19772884
MESH:D006930 Hyperalgesia Acetaminophen 2.7416870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6521332399
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.6721332399
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D007249 Inflammation Dietary Fats 8.6420412841
MESH:D007249 Inflammation Flavonoids 8.6417296493
MESH:D007249 Inflammation polyphenols 8.6416366677
MESH:D007333 Insulin Resistance Dietary Fats 7.3618457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.3616306350
MESH:D007511 Ischemia Zinc 4.7016584753
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5415604871
MESH:D007674 Kidney Diseases Acetaminophen 10.2512587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.258314463 10903974 18776723
MESH:D007674 Kidney Diseases Zinc 10.2516960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.4716518626
MESH:D007680 Kidney Neoplasms Cyclosporine 2.7812371664
MESH:D008103 Liver Cirrhosis Dietary Fats 6.7618296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.7621047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008107 Liver Diseases Acetaminophen 6.6616610002 19784758 19014921 16611625 11587558 12969438 12587719 19460945
MESH:D008107 Liver Diseases Phenobarbital 6.6619363144
MESH:D008107 Liver Diseases polyphenols 6.6616698588
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2916871587 17185352
MESH:D008113 Liver Neoplasms Aflatoxin B1 7.5415890375 2125692 9163691 18177683
MESH:D008113 Liver Neoplasms Phenobarbital 7.5419073162 8742319 19482888 21047994 15975961 19812893
MESH:D008113 Liver Neoplasms pirinixic acid 7.5420007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.138603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.1318308698 1399818 17172636 2563599 6150874
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8714755239
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.3312773700
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8816801185
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5617484760
MESH:D009369 Neoplasms pirinixic acid 1.9717405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3319348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9118514411
MESH:D009765 Obesity Dietary Fats 4.4720132043 21332399 16723640 20518802 17217161 18674790 11836018 19632207 18457598
MESH:D009765 Obesity pirinixic acid 4.4720558911
MESH:D010018 Osteomalacia Phenobarbital 4.4517016548
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5116965848
MESH:D011230 Precancerous Conditions Cyclosporine 9.1312371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.132563599
MESH:D011225 Pre-Eclampsia Zinc 4.2217114810
MESH:D011471 Prostatic Neoplasms Zinc 3.8116517595 16700911 12429649 16606632
MESH:D019310 Pseudolymphoma Phenobarbital 4.5912752131
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D012162 Retinal Degeneration Zinc 4.1616584753
MESH:D012640 Seizures Phenobarbital 2.733137016 16876388 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 4.906407741
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3517997062
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.091399818
MESH:D014062 Tongue Neoplasms Zinc 4.4516543248
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D014605 Uveitis Cyclosporine 4.081336536
MESH:D015430 Weight Gain Dietary Fats 3.7916723640
MESH:D014985 Xerophthalmia Cyclosporine 4.5417120751
Pathway ID Pathway Name
KEGG:00250 Alanine, aspartate and glutamate metabolism
KEGG:00340 Histidine metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00128 - L-Aspartic Acid Dietary supplement;Micronutrient;Non-Essential Amino Acids
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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


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