AutismKB 2.0

Annotation Detail for ATP6V1B1


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Basic Information Top
Gene Symbol:ATP6V1B1 ( ATP6B1,MGC32642,RTA1B,VATB,VMA2,VPP3 )
Gene Full Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Band: 2p13.3
Quick LinksEntrez ID:525; OMIM: 192132; Uniprot ID:VATB1_HUMAN; ENSEMBL ID: ENSG00000116039; HGNC ID: 853
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
Desease IDDesease Name
H00428Distal renal tubular acidosis (RTA type 1)
Urinary system diseases
Kidney diseases
No data
No data
No data
Desease Name
Renal tubular acidosis with deafness
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000584 Amiloride [Furosemide co-treated with Amiloride] results in increased expression of ATP6V1B1 proteinaffects cotreatment|increases expression 17311909
D005665 Furosemide [Furosemide co-treated with Amiloride] results in increased expression of ATP6V1B1 proteinaffects cotreatment|increases expression 17311909
D005665 Furosemide Furosemide results in increased expression of ATP6V1B1 proteinincreases expression 17311909
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ATP6V1B1 mRNAaffects cotreatment|increases expression 17183730
D006852 Hydrochlorothiazide Hydrochlorothiazide results in increased expression of ATP6V1B1 proteinincreases expression 17311909
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ATP6V1B1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.028875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3019490988
MESH:D000550 Amblyopia Valproic Acid 5.8517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8617497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9816609825 17507914 18775368 20603192 18177632 18558336 17688650 19460635 18316065 18396377 17157402 18985861 15238991 19232924 18940202
MESH:D001714 Bipolar Disorder Valproic Acid 3.2320046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.618888407
MESH:D002295 Carcinoma, Transitional Cell Amiloride 5.4314644129
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8120734317
MESH:D003092 Colitis Amiloride 5.5912065299
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 16575769 8888407
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2519641884 1733752
MESH:D004417 Dyspnea Furosemide 5.5516935035
MESH:D004421 Dystonia Valproic Acid 4.451851702
MESH:D004487 Edema Furosemide 4.3711834646
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.6417275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.533922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0918234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.917562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.787750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.603659116
MESH:D005234 Fatty Liver Valproic Acid 3.6714986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.5016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.578888407 18558336
MESH:D006130 Growth Disorders Amiloride 10.3219703807
MESH:D006130 Growth Disorders Hydrochlorothiazide 10.3219703807
MESH:D034381 Hearing Loss Furosemide 5.1517868369
MESH:D006333 Heart Failure Furosemide 4.2612660669 16845234 16011733
MESH:D006849 Hydrocephalus Valproic Acid 5.4117688650
MESH:D006934 Hypercalcemia Furosemide 5.4517652376
MESH:D053565 Hypercalciuria Furosemide 6.1917652376
MESH:D006962 Hyperparathyroidism, Secondary Furosemide 6.4915086907
MESH:D006973 Hypertension Amiloride 7.0018524855 19344079 15174897
MESH:D006973 Hypertension Hydrochlorothiazide 7.0019249413
MESH:D046110 Hypertension, Pregnancy-Induced Furosemide 13.4716612254
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 13.4716612254
MESH:D020514 Hypokalemic Periodic Paralysis Amiloride 6.3919822448
MESH:C537153 Hypomagnesemia primary Furosemide 6.1911041285
MESH:D007019 Hypoproteinemia Furosemide 6.4916096441
MESH:D007022 Hypotension Furosemide 5.0211041285
MESH:D007024 Hypotension, Orthostatic Furosemide 15.0815811171
MESH:D007024 Hypotension, Orthostatic Hydrochlorothiazide 15.0815811171
MESH:D007249 Inflammation Amiloride 3.9817237260
MESH:D007674 Kidney Diseases Furosemide 3.9511041285
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D056929 Liddle Syndrome Amiloride 6.4619344079
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.8717228818
MESH:D008881 Migraine Disorders Valproic Acid 3.4418803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.408888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3317596541
MESH:D009361 Neoplasm Invasiveness Amiloride 5.7414644129
MESH:D009397 Nephrocalcinosis Furosemide 6.4915086907
MESH:D009436 Neural Tube Defects Valproic Acid 3.3416359493 8888407
MESH:D053206 Nocturnal Enuresis Furosemide 6.4917945291
MESH:D019283 Pancreatitis, Acute Necrotizing Hydrochlorothiazide 7.313631033
MESH:D011141 Polyuria Furosemide 6.1917945291
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.3720603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.1512752131 11422049
OMIM:267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS marker/mechanism
MESH:D015427 Reperfusion Injury Furosemide 4.0616526316
MESH:D012128 Respiratory Distress Syndrome, Adult Furosemide 5.0216096441 15912074 12394941
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9615475178 11738929 17978042 16876388 3137016 1511512 11044598 14763951
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0619490988
MESH:D013226 Status Epilepticus Valproic Acid 5.1512833885
MESH:D013274 Stomach Neoplasms Furosemide 2.8617052386
MESH:D014178 Translocation, Genetic Valproic Acid 5.8517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.063119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.138888407
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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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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