AutismKB 2.0

Annotation Detail for AFAP1L1


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Basic Information Top
Gene Symbol:AFAP1L1 ( FLJ36748,MGC149773 )
Gene Full Name: actin filament associated protein 1-like 1
Band: 5q32
Quick LinksEntrez ID:134265; OMIM: NA; Uniprot ID:AF1L1_HUMAN; ENSEMBL ID: ENSG00000157510; HGNC ID: 26714
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
D000082 Acetaminophen Acetaminophen affects the expression of AFAP1L1 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in increased expression of AFAP1L1 mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of AFAP1L1 mRNAaffects binding|increases activity|increases expression 19710929
D014635 Valproic Acid Valproic Acid results in increased expression of AFAP1L1 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8619460635 18940202 17507914 18396377 17157402 18775368 17688650 16609825 19232924 18177632 15238991 20603192 18985861 18558336 18316065
MESH:D001714 Bipolar Disorder Valproic Acid 3.2420046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D002779 Cholestasis Cyclosporine 8.7419486331
MESH:D002779 Cholestasis pirinixic acid 8.7419176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9117688650 8888407 16575769
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.1011461765 11287661 18071297 10915739 11834606 17906064 16227642 12153990 19739265 14550746 14986274 12705907 12958197 11529661 14725611 10663392 16781746 12540782 19416960 11743745 17522070 16485898 11421492 19923254 16109766 19164858 19085960 10774834 12594235 19370779 17562736 18713872 15968718 12392966 11739529 19420014 16177239 16081117 16393943 2444490 15619225
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.101733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.713659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.6416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.966426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D005234 Fatty Liver Cyclosporine 15.6619224547
MESH:D005234 Fatty Liver pirinixic acid 15.6620131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 15.6619224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.6418558336 8888407
MESH:D005355 Fibrosis Cyclosporine 3.7012168785 12639820
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006529 Hepatomegaly pirinixic acid 3.5518467677 16221962 19176532 19772884
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4812587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.488314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2017596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.7019014921 16610002 12969438 16611625 19460945 19784758 11587558 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6316871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 1.9315890375 20007298 16377806
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D008881 Migraine Disorders Valproic Acid 3.4718765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6518481113 19348381
MESH:D009436 Neural Tube Defects Valproic Acid 3.378888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.2612752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9914763951 15475178 16876388 11738929 1511512 17978042 3137016 11044598
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
No data
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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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