AutismKB 2.0

Annotation Detail for AASDHPPT


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Basic Information Top
Gene Symbol:AASDHPPT ( AASD-PPT,DKFZp566E2346,LYS2,LYS5 )
Gene Full Name: aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Band: 11q22.3
Quick LinksEntrez ID:60496; OMIM: 607756; Uniprot ID:ADPPT_HUMAN; ENSEMBL ID: ENSG00000149313; HGNC ID: 14235
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6012acyl carrier protein metabolism
No data
Pathway IDPathway Name
Metabolism of vitamins and cofactors
No data
No data
Pathway IDPathway Name
500597Vitamin B5 (pantothenate) metabolism
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of AASDHPPT mRNAaffects expression 17562736
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 AASDHPPT mRNAdecreases expression 19150397
C006253 pirinixic acid pirinixic acid results in increased expression of AASDHPPT mRNAincreases expression 18301758
D014501 Uranium Uranium affects the expression of AASDHPPT mRNAaffects expression 15672453
C005460 uranyl acetate uranyl acetate affects the expression of AASDHPPT mRNAaffects expression 15672453
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
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:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6612705907 11739529 11421492 11743745 17522070 11529661 16781746 11287661 14725611 12153990 11461765 15619225 18071297 10915739 15968718 19923254 19416960 17906064 12958197 19739265 11834606 2444490 19085960 10663392 16081117 18713872 19420014 12540782 16393943 14550746 19164858 12392966 12594235 14986274 16177239 17562736 16109766 19370779 16485898 16227642 10774834
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4818467677 19176532 16221962 19772884
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6916611625 19460945 12969438 19014921 16610002 11587558 12587719 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 1.9220007298 15890375 16377806
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D014581 Urticaria Acetaminophen 3.3810982225
Pathway ID Pathway Name
REACT:11193 Metabolism of vitamins and cofactors
KEGG:00770 Pantothenate and CoA biosynthesis
Pharmacogenomics Knowledge Base Top
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  (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