AutismKB 2.0

Annotation Detail for ATP6V1F


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Basic Information Top
Gene Symbol:ATP6V1F ( ATP6S14,MGC117321,MGC126037,MGC126038,VATF,Vma7 )
Gene Full Name: ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F
Band: 7q32.1
Quick LinksEntrez ID:9296; OMIM: 607160; Uniprot ID:VATF_HUMAN; ENSEMBL ID: ENSG00000128524; HGNC ID: 16832
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04145Phagosome
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa04966Collecting duct acid secretion
hsa00190Oxidative phosphorylation
hsa01100Metabolic pathways
hsa05110Vibrio cholerae infection
Pathway IDPathway Name
Signaling by Insulin receptor
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of ATP6V1F mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone affects the expression of ATP6V1F mRNAaffects expression 19483382
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ATP6V1F mRNAaffects expression 16483693
D001553 Benzbromarone Benzbromarone affects the expression of ATP6V1F mRNAaffects expression 19483382
D002994 Clofibrate Clofibrate affects the expression of ATP6V1F mRNAaffects expression 19483382
D003840 Deoxycholic Acid [gluconic acid co-treated with Deoxycholic Acid] results in increased expression of ATP6V1F mRNAaffects cotreatment|increases expression 16556975
D005001 Ethionine Ethionine affects the expression of ATP6V1F mRNAaffects expression 19483382
C030691 gluconic acid [gluconic acid co-treated with Deoxycholic Acid] results in increased expression of ATP6V1F mRNAaffects cotreatment|increases expression 16556975
D006918 Hydroxyurea Hydroxyurea results in increased mutagenesis of ATP6V1F geneincreases mutagenesis 16868089
D007657 Ketone Bodies Ketone Bodies results in increased expression of ATP6V1F mRNAincreases expression 16807920
D008770 Methylnitrosourea Methylnitrosourea results in increased mutagenesis of ATP6V1F geneincreases mutagenesis 16868089
D009853 Omeprazole Omeprazole affects the expression of ATP6V1F mRNAaffects expression 19483382
C006253 pirinixic acid pirinixic acid affects the expression of ATP6V1F mRNAaffects expression 19483382
D011441 Propylthiouracil Propylthiouracil affects the expression of ATP6V1F mRNAaffects expression 19483382
D013853 Thioacetamide Thioacetamide affects the expression of ATP6V1F mRNAaffects expression 19483382
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.6118287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.1518653653
MESH:D000230 Adenocarcinoma Methylnitrosourea 3.1315688392 15113128
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5316434500
MESH:D000799 Angioedema Acetaminophen 3.9110982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.8318218290 20041841 18057881
MESH:D001281 Atrial Fibrillation Amiodarone 3.9218651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 51.4419483382
MESH:D001778 Blood Coagulation Disorders Benzbromarone 51.4419483382
MESH:D001778 Blood Coagulation Disorders Clofibrate 51.4419483382
MESH:D001778 Blood Coagulation Disorders Ethionine 51.4419483382
MESH:D001778 Blood Coagulation Disorders Omeprazole 51.4419483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 51.4419483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 51.4419483382
MESH:D001778 Blood Coagulation Disorders Thioacetamide 51.4419483382
MESH:D001943 Breast Neoplasms Methylnitrosourea 3.1711306469 14633655 16253758
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.753084413
MESH:D006528 Carcinoma, Hepatocellular Benzbromarone 4.751701930
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 4.7517997003
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9015710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.1318974383
MESH:D002386 Cataract Acetaminophen 7.6110977129
MESH:D002386 Cataract Methylnitrosourea 7.6112484553
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 7.381399818
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 7.382727394 7505956
MESH:D002637 Chest Pain Omeprazole 5.1715447763
MESH:D018281 Cholangiocarcinoma Thioacetamide 4.3118291259
MESH:D002779 Cholestasis pirinixic acid 2.8519176532
MESH:D003110 Colonic Neoplasms Deoxycholic Acid 3.5716213893
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4418249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.3719420014 19085960 12392966 18071297 14986274 17906064 15619225 14725611 16109766 16177239 16227642 10915739 16081117 18713872 12958197 19416960 11421492 11739529 17522070 19739265 11834606 16781746 14550746 12705907 2444490 11743745 19923254 15968718 10774834 11287661 12594235 11461765 12153990 12540782 16393943 19370779 17562736 11529661 16485898 10663392 19164858
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.3715265979 18218290
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 6.3712963478
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1619426721
MESH:D004381 Duodenal Ulcer Omeprazole 4.3615991576 21218061 17151854 16613094
MESH:D050171 Dyslipidemias Clofibrate 4.0916707586
MESH:D004487 Edema pirinixic acid 2.5112083418
MESH:D005218 Fat Necrosis Thioacetamide 5.7816456712
MESH:D005234 Fatty Liver Amiodarone 13.4014986274
MESH:D005234 Fatty Liver Clofibrate 13.4019224547
MESH:D005234 Fatty Liver pirinixic acid 13.4020131406 19236843
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.2811555667
MESH:D005756 Gastritis Acetaminophen 3.7416983495
MESH:D005910 Glioma Methylnitrosourea 3.579825942
MESH:D006333 Heart Failure pirinixic acid 2.5520558911
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.6015929193 18665440 17276928
MESH:D006505 Hepatitis Thioacetamide 4.2516456712
MESH:D006529 Hepatomegaly Amiodarone 8.7215265979
MESH:D006529 Hepatomegaly pirinixic acid 8.7219176532 16221962 19772884 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.7216870215
MESH:D006937 Hypercholesterolemia Amiodarone 3.909751232 8137927
MESH:D006943 Hyperglycemia pirinixic acid 3.2120558911
MESH:D007037 Hypothyroidism Amiodarone 11.7518020914 17991464
MESH:D007037 Hypothyroidism Propylthiouracil 11.758137927 18031379
MESH:D007248 Infertility, Male Methylnitrosourea 3.817193160
MESH:D007333 Insulin Resistance pirinixic acid 2.6516306350
MESH:D007674 Kidney Diseases Acetaminophen 2.2115629191 12587719
MESH:D016773 Leishmaniasis, Cutaneous Omeprazole 4.1219248655
MESH:D007951 Leukemia, Myeloid Hydroxyurea 5.0416532439
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.2215526292
MESH:D008064 Lipidoses Amiodarone 3.5315342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.5615474484
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 2.5616343077 18031379 15474484 16097051 17355460 12175628 16126171 16248980 18295389 18458672 18380797 15716488 11172339 15158331 18032466 16098781 17292413 15288473 15095483 15362042 17629604 10677585 15288472 18606216 15316131 18615449 12679928 11481614 18395095 16489207 18263696 12891558 17050028 18416461 17127702 12557150 15078482 12531686 11682029 16511523 14739098 15334695 12085344 15075984 15465738
MESH:D008107 Liver Diseases Acetaminophen 4.1512969438 19460945 16611625 19014921 12587719 11587558 16610002 19784758
MESH:D008107 Liver Diseases Thioacetamide 4.1518374380 15158337 16337175
MESH:D017114 Liver Failure, Acute Acetaminophen 9.7316871587 17185352
MESH:D017114 Liver Failure, Acute Thioacetamide 9.7312479984 15633222 15313186 17276928
MESH:D008113 Liver Neoplasms pirinixic acid 1.8315890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Deoxycholic Acid 4.226150874
MESH:D008133 Long QT Syndrome Amiodarone 3.6017391786 15350150 11989578
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 5.5116080182
MESH:D008171 Lung Diseases Amiodarone 3.3912587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.5418516814
MESH:D008175 Lung Neoplasms Methylnitrosourea 2.7018062963
MESH:D008223 Lymphoma Methylnitrosourea 4.0311418001 16257854
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 4.8014633661
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 3.6016944150 15113128 17020996 11807958 16051031 11751437 16827153 15313902 15688392 16619500 14999141 10838139 14633655 17131329 19196723 12931682 10767621
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6119513568
MESH:D009135 Muscular Diseases pirinixic acid 3.5516239165
MESH:D009181 Mycoses Amiodarone 4.9617974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.1519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9716411023
MESH:D009369 Neoplasms Methylnitrosourea 5.2815533788
MESH:D009369 Neoplasms pirinixic acid 5.2817405874
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 4.5112696579
MESH:D009442 Neurilemmoma Methylnitrosourea 5.5411555667
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8918514411
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 4.989802331
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D010146 Pain Acetaminophen 2.4116870215
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 3.3716965848
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 4.1112376480 15682402
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8612490602 11597910 12832656
MESH:D015427 Reperfusion Injury pirinixic acid 2.4019058328
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.4318172121 18155124
MESH:D012175 Retinoblastoma Methylnitrosourea 5.5411555667
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.1318724381
MESH:D013272 Stomach Diseases Omeprazole 4.6618545984
MESH:D013274 Stomach Neoplasms Methylnitrosourea 2.6916257854 18593901 15930296
MESH:D013276 Stomach Ulcer Amiodarone 7.6718087811
MESH:D013276 Stomach Ulcer Omeprazole 7.6710750652 17977527 18237397 15991576 16755016 11906479
MESH:D013610 Tachycardia Amiodarone 4.3211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.2219225199
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.2811418001
MESH:D013959 Thyroid Diseases Amiodarone 4.8219731979
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 7.833078959 7505956
MESH:D013964 Thyroid Neoplasms Propylthiouracil 7.8315710170
MESH:D013971 Thyrotoxicosis Amiodarone 4.9019584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.2417467628 11989578
MESH:D014581 Urticaria Acetaminophen 3.0110982225
Pathway ID Pathway Name
KEGG:04966 Collecting duct acid secretion
KEGG:05120 Epithelial cell signaling in Helicobacter pylori infection
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: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