AutismKB 2.0

Annotation Detail for ATP13A4


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Basic Information Top
Gene Symbol:ATP13A4 ( DKFZp761I1011,MGC126545 )
Gene Full Name: ATPase type 13A4
Band: 3q29
Quick LinksEntrez ID:84239; OMIM: 609556; Uniprot ID:AT134_HUMAN; ENSEMBL ID: ENSG00000127249; HGNC ID: 25422
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004052 Diethylnitrosamine Diethylnitrosamine results in decreased expression of ATP13A4 mRNAdecreases expression 17942915
D004052 Diethylnitrosamine MET protein inhibits the reaction [Diethylnitrosamine results in decreased expression of ATP13A4 mRNA]decreases expression|decreases reaction 17942915
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ATP13A4 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ATP13A4 mRNAaffects binding|decreases expression|increases activity 19710929
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ATP13A4 mRNAaffects cotreatment|increases expression 17183730
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:D000236 Adenoma Diethylnitrosamine 3.0510737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 12.2919052882 17620307 16434500 17162532 19061943 18056438
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.2916434500
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9818775368 18558336 18316065 17507914 16609825 15238991 17688650 18985861 18177632 18396377 17157402 19232924 19460635 18940202 20603192
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:D001943 Breast Neoplasms Diethylnitrosamine 2.1917474063
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 1.8817761372 10737359 19822196 16807293 18393292 19418558 16502159 18785209 17173139 20084675 20524982 3581430 11831363 19394651 19171122 19335982 19539802 19519916 18506893 16681979 17138121 18978308 21159647 18691550 20214788 18665156 17978847 18056438 16288022 20432363 20007298 20935162 19208518 18971187 16328049 17428255 16935385 10672840 19701751 19919837 16779866 16569478 19052882 20727157 3084413 17162532 18210153 19383236 16830150 20512989 16540662 18494052 20101231 17055752 16878318 18788625 19107877 16698587 20514400
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.1217174075 2727394 21159647 7505956
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 4.0519052882
MESH:D002779 Cholestasis pirinixic acid 3.1219176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9117688650 16575769 8888407
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2620387270
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 4.2719107877
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.2719641884 1733752
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:D004931 Esophageal Achalasia Diethylnitrosamine 5.8416302075
MESH:D005234 Fatty Liver Diethylnitrosamine 15.7120387270 21071580
MESH:D005234 Fatty Liver pirinixic acid 15.7119236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 15.7119224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.6418558336 8888407
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006529 Hepatomegaly pirinixic acid 3.5519176532 18467677 16221962 19772884
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.1916612254
MESH:D007249 Inflammation Diethylnitrosamine 2.5518785209
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2017596541 16294345
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 3.0120032147 18407596 18522880 18665156 19638242
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1717034775
MESH:D008113 Liver Neoplasms Diethylnitrosamine 4.8421278145 18978307 19499222 19833225 18644402 19642983 20101389 20118626 19427195 2422723 19073162 21167192 19690152 21047994 18648771 19551842 19812893 21071580 20137499 20501860 19294768 20405173 20452335 2862719 16942905 10737359 19426721 20492335 12112319 19090486 19638242 19256749 19254457 9163691 18754104 20583210 12771043 19996281 15175105 15885732 19850985 18977376 19255062 20434301
MESH:D008113 Liver Neoplasms pirinixic acid 4.8420007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.8518308698 18079962 3124819 18253720 17942915 19126423 16842330 18775883 19004024 18164116 9362446 18544905 18093689 21159647 19519916 18282651 2563599 19539802 17174075 17854601 19009564 16267830
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7720970405 6695378 21163286 20512841
MESH:D008881 Migraine Disorders Valproic Acid 3.4718803445 18765137
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:D009362 Neoplasm Metastasis Diethylnitrosamine 2.693581430 9029167
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.378888407 16359493
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6920387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.8420387270
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5316540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.922563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.2612752131 11422049
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 1511512 11044598 15475178 3137016 17978042 11738929 16876388
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.297505956
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
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