AutismKB 2.0

Annotation Detail for ATP6V1C1


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Basic Information Top
Gene Symbol:ATP6V1C1 ( ATP6C,ATP6D,FLJ20057,VATC,Vma5 )
Gene Full Name: ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1
Band: 8q22.3
Quick LinksEntrez ID:528; OMIM: 603097; Uniprot ID:VATC1_HUMAN; ENSEMBL ID: ENSG00000155097; HGNC ID: 856
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
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of ATP6V1C1 mRNAincreases expression 15336504
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ATP6V1C1 mRNAaffects cotreatment|increases expression 17183730
D007657 Ketone Bodies Ketone Bodies results in increased expression of ATP6V1C1 mRNAincreases expression 16807920
D011794 Quercetin Quercetin results in decreased expression of ATP6V1C1 mRNAdecreases expression 15309432
D012643 Selenium Selenium results in decreased expression of ATP6V1C1 mRNAdecreases expression 19244175
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ATP6V1C1 mRNAaffects cotreatment|increases expression 17183730
D014810 Vitamin E Vitamin E results in decreased expression of ATP6V1C1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.888875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2119490988
MESH:D000550 Amblyopia Valproic Acid 5.6817688650
MESH:D000743 Anemia, Hemolytic Quercetin 4.5217084956
MESH:D001008 Anxiety Disorders Valproic Acid 3.7917497229
MESH:D001260 Ataxia Telangiectasia Quercetin 5.3715336622
MESH:D001321 Autistic Disorder Valproic Acid 1.9920603192 17157402 15238991 17688650 17507914 18316065 18177632 18396377 18558336 16609825 18940202 19460635 18985861 18775368 19232924
MESH:D001327 Autoimmune Diseases Quercetin 4.7719761891
MESH:D001714 Bipolar Disorder Valproic Acid 3.2020046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.578888407
MESH:D001943 Breast Neoplasms Quercetin 2.6318628248
MESH:D002105 Cadmium Poisoning Quercetin 5.9916962696
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2916050911
MESH:D006528 Carcinoma, Hepatocellular Quercetin 2.3019519916 12508355
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.3117234771
MESH:D006332 Cardiomegaly Quercetin 3.4519794523
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7920734317
MESH:D003092 Colitis Selenium 4.1417936198
MESH:D003110 Colonic Neoplasms Quercetin 2.4515741050 16640504 19056647 11134977 19440933 17148506 17191121
MESH:D015179 Colorectal Neoplasms Quercetin 2.1918095365 18852136
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.788888407 17688650 16575769
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.7819769572
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.9719496084
MESH:D056486 Drug-Induced Liver Injury Selenium 4.2315131321
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.231733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.351851702
MESH:C538011 Eales disease Vitamin E 5.159068938
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.513659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.3616628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0620417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.846254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.667750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.463659116
MESH:D005234 Fatty Liver Valproic Acid 3.5819224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.3316575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.4618558336 8888407
MESH:D005355 Fibrosis Quercetin 4.2619474275
MESH:D005909 Glioblastoma Quercetin 3.5619804834
MESH:D005910 Glioma Quercetin 3.1417643826
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1216080930
MESH:D006333 Heart Failure Selenium 3.2317162251
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7816863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.4114716179
MESH:D006849 Hydrocephalus Valproic Acid 5.2617688650
MESH:D006943 Hyperglycemia Quercetin 4.3018262572 11834736
MESH:D006973 Hypertension Quercetin 2.9418356687
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.9816612254
MESH:D007251 Influenza, Human Quercetin 21.4016624496
MESH:D007251 Influenza, Human Selenium 21.4016624496
MESH:D007251 Influenza, Human Vitamin E 21.4016624496
MESH:D007627 Keloid Quercetin 5.3117086741
MESH:D007674 Kidney Diseases Quercetin 6.7816962696
MESH:D007674 Kidney Diseases Vitamin E 6.7812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.1716518626
MESH:D007938 Leukemia Quercetin 3.2717468513
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 2.7612741479
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.7616169303
MESH:D008113 Liver Neoplasms Quercetin 2.7518980244
MESH:D008114 Liver Neoplasms, Experimental Quercetin 3.2119519916
MESH:D008171 Lung Diseases Vitamin E 3.3516863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7017228818
MESH:D008175 Lung Neoplasms Quercetin 2.7216280456
MESH:D008175 Lung Neoplasms Vitamin E 2.7211062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9215318939
MESH:D008654 Mesothelioma Selenium 2.8815107826
MESH:D008881 Migraine Disorders Valproic Acid 3.3818765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.318888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3017596541
MESH:D009203 Myocardial Infarction Quercetin 3.0919595682
MESH:D015428 Myocardial Reperfusion Injury Quercetin 4.0019207477
MESH:D009369 Neoplasms Quercetin 2.9115185748
MESH:D009436 Neural Tube Defects Valproic Acid 3.308888407 16359493
MESH:D020078 Neurogenic Inflammation Quercetin 4.6717929310
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.5219495926
MESH:D010051 Ovarian Neoplasms Quercetin 2.8019005980
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9316965848
MESH:D010954 Plasmacytoma Selenium 5.3315087411
MESH:D011230 Precancerous Conditions Quercetin 4.2319056647
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2320603192
MESH:D011471 Prostatic Neoplasms Quercetin 3.3614715546 17292933
MESH:D011471 Prostatic Neoplasms Vitamin E 3.3615084515
MESH:D019310 Pseudolymphoma Valproic Acid 4.9811422049 12752131
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4819155313
MESH:D012554 Schistosomiasis japonica Quercetin 5.9916862918
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9116876388 1511512 3137016 14763951 11044598 17978042 11738929 15475178
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.808532709
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9812833885
MESH:D020521 Stroke Vitamin E 3.7416517955
MESH:D014178 Translocation, Genetic Valproic Acid 5.6817262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.923119515
MESH:D001749 Urinary Bladder Neoplasms Quercetin 2.8916720314
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.008888407
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
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01694 - D-tartaric acid
No data
No data
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


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