AutismKB 2.0

Annotation Detail for ATP6V0D1


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Basic Information Top
Gene Symbol:ATP6V0D1 ( ATP6D,ATP6DV,FLJ43534,P39,VATX,VMA6,VPATPD )
Gene Full Name: ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
Band: 16q22.1
Quick LinksEntrez ID:9114; OMIM: 607028; Uniprot ID:VA0D1_HUMAN; ENSEMBL ID: ENSG00000159720; HGNC ID: 13724
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
hsa04145Phagosome
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa04966Collecting duct acid secretion
hsa00190Oxidative phosphorylation
hsa01100Metabolic pathways
hsa05110Vibrio cholerae infection
Pathway IDPathway Name
Diabetes pathways
Signaling by Insulin receptor
No data
No data
Pathway IDPathway Name
500131Activation of Chaperones by IRE1alpha
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of ATP6V0D1 mRNAincreases expression 19933214
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ATP6V0D1 mRNAaffects expression 21346803
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of ATP6V0D1 mRNAdecreases expression 17108234
D012643 Selenium Selenium results in increased expression of ATP6V0D1 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ATP6V0D1 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ATP6V0D1 mRNAincreases expression 19933214
D014810 Vitamin E Vitamin E results in increased expression of ATP6V0D1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.3516050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7816705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18670907 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1017333356 16105132 17110522 15861022 16919318 11677210 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2115340226 8697196 15668235 16354765 12621046
MESH:D003092 Colitis Selenium 4.2017936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5515322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5519769572
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.6521346803 18551238
MESH:D056486 Drug-Induced Liver Injury Selenium 6.6515131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:C538011 Eales disease Vitamin E 5.229068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0611294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 7.0616080930
MESH:D006333 Heart Failure Selenium 3.2517162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 16120746 12621046
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7916490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.4914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.578697196 18606429 16354765 16959395 15340226
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007251 Influenza, Human Selenium 12.7616624496
MESH:D007251 Influenza, Human Vitamin E 12.7616624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Vitamin E 2.9612488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.2116518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2416705839
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4212878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4216169303
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8116984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008171 Lung Diseases Vitamin E 3.3716863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3819555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 2.3811062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9515318939
MESH:D008654 Mesothelioma Selenium 2.8915107826
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7316049721 12819281
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010954 Plasmacytoma Selenium 5.4115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11222880 11896295 11118676
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D020521 Stroke Vitamin E 3.7716517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3816049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:04966 Collecting duct acid secretion
REACT:15380 Diabetes pathways
KEGG:05120 Epithelial cell signaling in Helicobacter pylori infection
KEGG:04142 Lysosome
KEGG:01100 Metabolic pathways
KEGG:00190 Oxidative phosphorylation
KEGG:04145 Phagosome
KEGG:05323 Rheumatoid arthritis
REACT:498 Signaling by Insulin receptor
REACT:15518 Transmembrane transport of small molecules
KEGG:05152 Tuberculosis
KEGG:05110 Vibrio cholerae infection
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


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