BCHE (GeneID: 590) | Homo sapiens
Description: butyrylcholinesterase [Source:HGNC Symbol;Acc:HGNC:983]
Synonyms: CHE1, E1, CHE2
Other ID(s): ENSG00000114200, HGNC:983
Protein Accession Numbers: ENST00000264381.3, ENST00000540653, ENST00000482958, ENST00000264381, ENST00000497011, ENST00000479451, NP_000046, ENST00000488954
Statistics: gnomAD(520)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000264381 ENST00000479451 ENST00000482958 ENST00000488954 ENST00000497011 ENST00000540653 NP_000046


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00135 COesterase Carboxylesterase family 19-561 CL0028 AB_hydrolase Caenorhabditis elegans

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alcoholic Intoxication Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Apnea Respiratory Tract Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Bipolar Disorder Mental Disorders ; 0.503 0.793
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Cocaine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Cognition Disorders Mental Disorders ; 0.503 0.793
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Drug toxicity Chemically-Induced Disorders ; 0.503 0.793
Tonic-Clonic Epilepsy Nervous System Diseases ; 0.503 0.793
Muscular fasciculation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Glioblastoma Neoplasms ; 0.503 0.793
Hemiparesis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Hypersomnia with Periodic Respiration Respiratory Tract Diseases ; Nervous System Diseases ; 0.503 0.793
Hypertriglyceridemia Nutritional and Metabolic Diseases ; 0.503 0.793
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Multiple Sclerosis Nervous System Diseases ; Immune System Diseases ; 0.503 0.793
Muscular Dystrophy Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.503 0.793
Neuroblastoma Neoplasms ; 0.503 0.793
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Paresis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Poisoning Chemically-Induced Disorders ; 0.503 0.793
Postoperative Complications Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Sleep Apnea Syndromes Respiratory Tract Diseases ; Nervous System Diseases ; 0.503 0.793
Tachycardia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Trismus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Adverse reaction to drug Chemically-Induced Disorders ; 0.503 0.793
Tachyarrhythmia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Encephalopathy, Toxic Nervous System Diseases ; Chemically-Induced Disorders ; 0.503 0.793
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Toxic Encephalitis Nervous System Diseases ; Chemically-Induced Disorders ; 0.503 0.793
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Todd Paralysis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Neurotoxicity Syndromes Nervous System Diseases ; Chemically-Induced Disorders ; 0.503 0.793
Cocaine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Fasciculation, Tongue Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Masseter Muscle Spasm Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Pseudocholinesterase deficiency Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Monoparesis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Giant Cell Glioblastoma Neoplasms ; 0.503 0.793
Sleep Apnea, Mixed Central and Obstructive Respiratory Tract Diseases ; Nervous System Diseases ; 0.503 0.793
Lockjaw Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Organophosphorus Poisoning Chemically-Induced Disorders ; 0.503 0.793
Cardiac Death Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Hyperactive behavior Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Paralysed Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Fasciculation, Skeletal Muscle Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Cocaine Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Organophosphate poisoning Chemically-Induced Disorders ; 0.503 0.793
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Cryptogenic Tonic-Clonic Epilepsy Nervous System Diseases ; 0.503 0.793
Epilepsy, Tonic-Clonic, Familial Nervous System Diseases ; 0.503 0.793
Epilepsy, Tonic-Clonic, Symptomatic Nervous System Diseases ; 0.503 0.793
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Fasciculation, Benign Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Hyperkinesia, Generalized Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Multiple Sclerosis, Acute Fulminating Nervous System Diseases ; Immune System Diseases ; 0.503 0.793
Upper Extremity Paresis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Lower Extremity Paresis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Cardiotoxicity Pathological Conditions, Signs and Symptoms ; Chemically-Induced Disorders ; Wounds and Injuries ; 0.503 0.793
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Chromophobe Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Sarcomatoid Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Collecting Duct Carcinoma of the Kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Butyrylcholinesterase deficiency Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Papillary Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Glioblastoma Multiforme Neoplasms ; 0.503 0.793
Suxamethonium sensitivity Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Bamforth syndrome Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Endocrine System Diseases ; 0.503 0.793
Acholinesterasemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.503 0.793
Apnea, Postanesthetic Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.503 0.793
Hypocholinesterasemia, Fluoride-Resistant, Japanese Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.503 0.793
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Endocrine System Diseases ; 0.503 0.793
Organothiophosphonate Poisoning Chemically-Induced Disorders ; 0.503 0.793
Organothiophosphate Poisoning Chemically-Induced Disorders ; 0.503 0.793
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
BCHE, FLUORIDE 1 PHENOTYPE N/A 0.503 0.793
BCHE, FLUORIDE 2 PHENOTYPE N/A 0.503 0.793
BCHE, K VARIANT PHENOTYPE N/A 0.503 0.793
BCHE, J VARIANT PHENOTYPE N/A 0.503 0.793
BCHE, H VARIANT PHENOTYPE N/A 0.503 0.793
BCHE NEWFOUNDLAND PHENOTYPE N/A 0.503 0.793
BCHE, SILENT 1 PHENOTYPE N/A 0.503 0.793
BCHE CYNTHIANA PHENOTYPE N/A 0.503 0.793
BCHE JOHANNESBURG PHENOTYPE N/A 0.503 0.793
APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1 N/A 0.503 0.793
BCHE, DIBUCAINE-RESISTANT I PHENOTYPE N/A 0.503 0.793
CHE*70G PHENOTYPE N/A 0.503 0.793
BCHE*70G PHENOTYPE N/A 0.503 0.793
BCHE ANN ARBOR PHENOTYPE N/A 0.503 0.793
CHE*FS117 PHENOTYPE N/A 0.503 0.793
BCHE*FS117 PHENOTYPE N/A 0.503 0.793
BCHE, FLUORIDE-RESISTANT I PHENOTYPE N/A 0.503 0.793
CHE*243M PHENOTYPE N/A 0.503 0.793
BCHE*243M PHENOTYPE N/A 0.503 0.793
BCHE, FLUORIDE-RESISTANT II PHENOTYPE N/A 0.503 0.793
CHE*390V PHENOTYPE N/A 0.503 0.793
BCHE*390V PHENOTYPE N/A 0.503 0.793
BCHE, QUANTITATIVE K POLYMORPHISM PHENOTYPE N/A 0.503 0.793
CHE*539T PHENOTYPE N/A 0.503 0.793
BCHE*539T PHENOTYPE N/A 0.503 0.793
BCHE, QUANTITATIVE J VARIANT PHENOTYPE N/A 0.503 0.793
BCHE, QUANTITATIVE H VARIANT PHENOTYPE N/A 0.503 0.793
BCHE*FS126 PHENOTYPE N/A 0.503 0.793
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
NO RESULT FOUND
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