AutismKB 2.0

Annotation Detail for AMBRA1


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Basic Information Top
Gene Symbol:AMBRA1 ( DCAF3,FLJ20294,KIAA1736,MGC33725,WDR94 )
Gene Full Name: autophagy/beclin-1 regulator 1
Band: 11p11.2
Quick LinksEntrez ID:55626; OMIM: 611359; Uniprot ID:AMRA1_HUMAN; ENSEMBL ID: ENSG00000110497; HGNC ID: 25990
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of AMBRA1 mRNAaffects expression 16483693
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of AMBRA1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of AMBRA1 mRNAincreases expression 19482888
D014810 Vitamin E Vitamin E results in increased expression of AMBRA1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 4.186195326
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.7117620307
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9520007298 1701930 20935162 6705139 17173139
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.904080065
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D004421 Dystonia Phenobarbital 4.531851702
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.763659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.7411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.966401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.907750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.763659116
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1816080930
MESH:D006529 Hepatomegaly Phenobarbital 4.1316109766
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.8414716179
MESH:D007251 Influenza, Human Vitamin E 5.0816624496
MESH:D007674 Kidney Diseases Vitamin E 3.0312488133
MESH:D008103 Liver Cirrhosis Phenobarbital 3.1021047994
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008107 Liver Diseases Phenobarbital 2.2519363144
MESH:D008113 Liver Neoplasms Phenobarbital 2.438742319 19482888 19812893 19073162 15975961 21047994
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.951399818 18308698 2563599 17172636 6150874
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.2217484760
MESH:D010018 Osteomalacia Phenobarbital 5.1117016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6116965848
MESH:D011230 Precancerous Conditions Phenobarbital 4.042563599
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2415084515
MESH:D019310 Pseudolymphoma Phenobarbital 5.3612752131
MESH:D012640 Seizures Phenobarbital 2.9716876388 3137016 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.566407741
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D020521 Stroke Vitamin E 3.8816517955
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.391399818
No data
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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