AutismKB 2.0

Annotation Detail for ATP8A1


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Basic Information Top
Gene Symbol:ATP8A1 ( ATPASEII,ATPIA,ATPP2,MGC130042,MGC130043,MGC26327 )
Gene Full Name: ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
Band: 4p13
Quick LinksEntrez ID:10396; OMIM: 609542; Uniprot ID:AT8A1_HUMAN; ENSEMBL ID: ENSG00000124406; HGNC ID: 13531
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CHEMDEPENDENCY
smoking cessation
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C027576 4-hydroxy-2-nonenal 4-hydroxy-2-nonenal results in increased oxidation of ATP8A1 proteinincreases oxidation 15033435
D000171 Acrolein Acrolein results in increased oxidation of ATP8A1 proteinincreases oxidation 15033435
D001151 Arsenic Arsenic results in decreased expression of ATP8A1 mRNAdecreases expression 19654921
C006632 arsenic trioxide arsenic trioxide results in increased expression of ATP8A1 mRNAincreases expression 15761015
D016572 Cyclosporine Cyclosporine results in increased expression of ATP8A1 mRNAincreases expression 20106945
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of ATP8A1 mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in increased expression of ATP8A1 mRNAincreases expression 19619570
D015525 Fatty Acids, Omega-3 Fatty Acids, Omega-3 results in decreased expression of ATP8A1 mRNAdecreases expression 16823509
D008345 Manganese Manganese results in decreased expression of ATP8A1 mRNAdecreases expression 17175027
C025340 manganese chloride manganese chloride results in decreased expression of ATP8A1 mRNAdecreases expression 17175027
C030589 methylmercury cysteine methylmercury cysteine results in increased expression of ATP8A1 mRNAincreases expression 19465457
D043371 Fatty Acids, Omega-6 Fatty Acids, Omega-6 results in increased expression of ATP8A1 mRNAincreases expression 16823509
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ATP8A1 mRNAaffects binding|decreases expression|increases activity 19710929
D011374 Progesterone Progesterone affects the expression of ATP8A1 mRNAaffects expression 17251523
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of ATP8A1 mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ATP8A1 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ATP8A1 mRNAincreases expression 19619570
D014415 Tunicamycin Tunicamycin results in decreased expression of ATP8A1 mRNAdecreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9011752688 14514962 15322242
MESH:D055371 Acute Lung Injury Acrolein 9.4021297076 20525806
MESH:D055371 Acute Lung Injury pirinixic acid 9.4018653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4211798837 19825857
MESH:D000230 Adenocarcinoma Estradiol 4.4211473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.0716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.0716835633
MESH:D018246 Adrenocortical Adenoma Arsenic 5.2817306315
MESH:D000544 Alzheimer Disease Acrolein 3.2815207723 14715435 17570602
MESH:D000690 Amyotrophic Lateral Sclerosis 4-hydroxy-2-nonenal 4.1210965797
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9711748828
MESH:D000756 Anemia, Sideroblastic Manganese 11.1316910769
MESH:D000756 Anemia, Sideroblastic manganese chloride 11.1316910769
MESH:D020261 Arsenic Poisoning Arsenic 2.8716251483 16835338 18414634 12569548
MESH:D001161 Arteriosclerosis Acrolein 5.0515014928
MESH:D050197 Atherosclerosis Acrolein 7.2016126721 17363696 16037261
MESH:D050197 Atherosclerosis Arsenic 7.2019371607 12928151
MESH:D001289 Attention Deficit Disorder with Hyperactivity Fatty Acids, Omega-3 9.3318448859
MESH:D001289 Attention Deficit Disorder with Hyperactivity Fatty Acids, Omega-6 9.3318448859
MESH:D001321 Autistic Disorder Fatty Acids, Omega-3 3.4716920077
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 15.4616206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 15.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 15.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8515340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7815746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4017868700
MESH:D001930 Brain Injuries Progesterone 4.3015845082 15380490 15665606
MESH:D001943 Breast Neoplasms Estradiol 1.8416675129 18497071 12948864 17018787 17289903 17261762 19861407 14630087
MESH:D001943 Breast Neoplasms Progesterone 1.8416175315 15562024 17614352
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8420435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.3611589617
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5116111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8216835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6117687452 15504454
MESH:D006528 Carcinoma, Hepatocellular Arsenic 4.6817306315 16507464
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.6815073043 15553829 16217749 11135700 14691202
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6816924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 4.9419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1412490120
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7015504454 17687452 18922899
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.1018640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3818670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Arsenic 3.4717938729 15738583 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.3316973168 18022660
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.6412371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.6418566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1916835633
MESH:D002779 Cholestasis Cyclosporine 7.8319486331
MESH:D002779 Cholestasis pirinixic acid 7.8319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1112621046 15340226 16354765 15668235 8697196
MESH:D015179 Colorectal Neoplasms Acrolein 2.8917597105
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.8920501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0817141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.2212609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.4810525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4820055451 10048152 15322242
MESH:D003556 Cystitis Acrolein 5.4512161096
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.1315213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4418249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.4419279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.5317187935
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7811462148
MESH:D004487 Edema pirinixic acid 6.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.6311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9618230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.8217692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.0019148513 18566989 11473722
MESH:D004715 Endometriosis Progesterone 9.0216134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.029294722 10568697
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3212903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0311564622
MESH:D005234 Fatty Liver arsenic trioxide 13.2415073043
MESH:D005234 Fatty Liver Cyclosporine 13.2419224547
MESH:D005234 Fatty Liver pirinixic acid 13.2419236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5011858732
MESH:D005355 Fibrosis Cyclosporine 8.6212639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.6220067830
MESH:D005534 Foot Diseases Arsenic 5.626392382
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3016904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.278708960
MESH:D005909 Glioblastoma Manganese 3.9317043766
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3410048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4715720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3611000095
MESH:D006529 Hepatomegaly pirinixic acid 8.4019176532 18467677 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.4012621046 15340226 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.0915709030
MESH:D019584 Hot Flashes Estradiol 3.8117088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.118697196 18606429 15340226 16354765 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.2120558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.4817050553
MESH:D006973 Hypertension Arsenic 8.6411953799 9931084 16076760
MESH:D006973 Hypertension Cyclosporine 8.6410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.6418670907 18850075
MESH:D006987 Hypesthesia Arsenic 5.6216093927
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.4415869954
MESH:D007249 Inflammation Fatty Acids, Omega-3 8.6017296493
MESH:D007249 Inflammation Progesterone 8.6015869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.6012878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.2616627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.2616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5015604871
MESH:D007642 Keratosis Arsenic 5.0416930632 12749816
MESH:D007674 Kidney Diseases Acrolein 10.2912488133
MESH:D007674 Kidney Diseases Cyclosporine 10.298314463 18776723 10903974
MESH:D007674 Kidney Diseases Estradiol 10.2915618244
MESH:D007680 Kidney Neoplasms Cyclosporine 7.3512371664
MESH:D007680 Kidney Neoplasms Estradiol 7.3515610895
MESH:D007938 Leukemia arsenic trioxide 2.8415070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.8212560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.3616972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.4514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.7919077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1417050201 16467208 19850784 16968895 20471514
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 7.8417339181
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 7.8419225113 16112521 17217047 9834237 16966277 17107899 15748426 19035177 16331271 11468182 12018890 17712046 15622746 16330433 15336539 19642359 11161223 17869043 16823087 16891316 12712474 12679006 19075265 17649720 15213294
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.3916882451
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.3914659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.3915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.3912878042
MESH:D008107 Liver Diseases Arsenic 2.5511134558
MESH:D008113 Liver Neoplasms Arsenic 10.7816368122
MESH:D008113 Liver Neoplasms arsenic trioxide 10.7814682389
MESH:D008113 Liver Neoplasms pirinixic acid 10.7815890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.7816984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 5.8620377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.8612151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.3715213294
MESH:D008171 Lung Diseases Acrolein 4.2311504702
MESH:D008175 Lung Neoplasms Arsenic 3.4619168569 17976673 17306315
MESH:D008175 Lung Neoplasms arsenic trioxide 3.4619825857 11798837
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4611884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.1211807958 11408345 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.1217203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 13.2219453300
MESH:D020149 Manganese Poisoning Manganese 13.2219453300 16551646 16568477
MESH:D008546 Melanoma, Experimental Acrolein 5.2510803710
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8516801185
MESH:D009069 Movement Disorders Manganese 5.0416551646
MESH:D009101 Multiple Myeloma arsenic trioxide 3.1214977855 11468182 15949261 19549372 19417148
MESH:D009135 Muscular Diseases pirinixic acid 3.5516239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.7318349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.1616882451 16105982
MESH:D009203 Myocardial Infarction pirinixic acid 2.1519151258
MESH:D017202 Myocardial Ischemia Arsenic 9.0815371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.0812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.3216810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.3216411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0016624393
MESH:D009369 Neoplasms Acrolein 5.3717329238
MESH:D009369 Neoplasms pirinixic acid 5.3717405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7817289903
MESH:D009393 Nephritis Acrolein 6.3512653641
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5017954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3119348381 18481113
MESH:D009410 Nerve Degeneration Manganese 4.2916551646
MESH:D009421 Nervous System Malformations Estradiol 9.5916427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.5914600291
MESH:D009436 Neural Tube Defects Arsenic 7.5116620997
MESH:D009436 Neural Tube Defects arsenic trioxide 7.5110525206
MESH:D019636 Neurodegenerative Diseases Acrolein 4.5311342003
MESH:D020078 Neurogenic Inflammation Arsenic 4.4117056641
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D010051 Ovarian Neoplasms Arsenic 11.3917306315
MESH:D010051 Ovarian Neoplasms arsenic trioxide 11.3916624393 12452020 19769630
MESH:D010051 Ovarian Neoplasms Estradiol 11.3919401270
MESH:D010051 Ovarian Neoplasms Progesterone 11.3917393432 16525653
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5315580305
MESH:D010235 Paraganglioma arsenic trioxide 4.1919927285
MESH:D010300 Parkinson Disease Acrolein 6.0417690948
MESH:D010300 Parkinson Disease Manganese 6.0411181820
MESH:D020734 Parkinsonian Disorders Manganese 4.5016140633
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3112520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.2116093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.046392382 16905509 15371236
MESH:D010787 Photosensitivity Disorders 4-hydroxy-2-nonenal 13.6711550810
MESH:D010787 Photosensitivity Disorders Acrolein 13.6711550810
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2411118676 11896295 11399792 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9120887781
MESH:D011471 Prostatic Neoplasms Arsenic 2.6016140617
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.6019131511
MESH:D011471 Prostatic Neoplasms Estradiol 2.6016740699
MESH:D011507 Proteinuria Arsenic 4.0421343184
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D051437 Renal Insufficiency Acrolein 5.0512732208
MESH:D015427 Reperfusion Injury pirinixic acid 2.4019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8718990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8618045962
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0016646077
MESH:D012871 Skin Diseases Arsenic 2.756392382 19834688 17453740 17938729 16759981 15952646 16353154 17050553 18709164 17548696 16702368
MESH:D012878 Skin Neoplasms Arsenic 5.7517976673 15504454 17029826 16251483 19538983 17050553
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7516192470
MESH:D013119 Spinal Cord Injuries Progesterone 4.3315862959 16503802
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D020521 Stroke Acrolein 4.5816269634
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9612697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1119014326
MESH:D013978 Tibial Fractures Estradiol 4.7519048282
MESH:D016171 Torsades de Pointes arsenic trioxide 4.0115213294
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.3117976673 17306315 18640142 11144890 19429237 19322015 15987713
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.3112845720 12973940 20435036 11780464
MESH:D014605 Uveitis Cyclosporine 4.051336536
MESH:D014652 Vascular Diseases Arsenic 4.7917056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3115886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5017120751
Pathway ID Pathway Name
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25165
    • No data
    Releated disease ID Related disease Name
    PA443319Alzheimer Disease
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00144 - Phosphatidylserine Dietary supplement;Micronutrient
    No data
    No data
    No data

    Simple Query:


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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


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