BCHE (butyrylcholinesterase) - Rat Genome Database

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Gene: BCHE (butyrylcholinesterase) Homo sapiens
Analyze
Symbol: BCHE
Name: butyrylcholinesterase
RGD ID: 732174
HGNC Page HGNC
Description: Enables cholinesterase activity and identical protein binding activity. Predicted to be involved in cocaine metabolic process. Located in blood microparticle. Implicated in Alzheimer's disease; coronary artery disease (multiple); diabetes mellitus (multiple); epilepsy; and inherited metabolic disorder. Biomarker of several diseases, including bacterial meningitis; dementia; familial hyperlipidemia; neurodegenerative disease (multiple); and primary progressive multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acylcholine acylhydrolase; BCHED; butyrylcholine esterase; CHE1; CHE2; choline esterase II; cholinesterase; cholinesterase (serum) 2; cholinesterase 1; E1; pseudocholinesterase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3165,772,904 - 165,837,462 (-)EnsemblGRCh38hg38GRCh38
GRCh383165,772,904 - 165,837,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373165,490,692 - 165,555,211 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363166,973,386 - 167,037,947 (-)NCBINCBI36hg18NCBI36
Build 343166,973,394 - 167,037,952NCBI
Celera3163,889,280 - 163,954,027 (-)NCBI
Cytogenetic Map3q26.1NCBI
HuRef3162,859,251 - 162,924,002 (-)NCBIHuRef
CHM1_13165,453,437 - 165,518,145 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Alzheimer's disease  (EXP,IAGP,IEP)
amnestic disorder  (ISO)
Amyloid Plaques  (ISO)
Apnea  (EXP)
bacterial meningitis  (IEP)
Bamforth-Lazarus syndrome  (EXP)
Breast Neoplasms  (EXP)
Butyrylcholinesterase Deficiency  (EXP,IAGP)
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  (IAGP)
Cardiotoxicity  (EXP)
Cocaine-Related Disorders  (EXP)
cognitive disorder  (EXP)
congenital merosin-deficient muscular dystrophy 1A  (ISO)
coronary artery disease  (IAGP)
coronary restenosis  (IAGP)
Death  (EXP)
dementia  (IEP)
Drug-Related Side Effects and Adverse Reactions  (EXP)
dystonia  (IEP)
Endotoxemia  (IDA)
epilepsy  (IDA)
epilepsy with generalized tonic-clonic seizures  (EXP)
Experimental Diabetes Mellitus  (ISO)
familial hyperlipidemia  (IEP)
Fasciculation  (EXP)
glioblastoma  (EXP)
Huntington's disease  (IEP)
hyperhomocysteinemia  (ISO)
Hyperkinesis  (EXP)
hypertension  (IEP)
Hypertriglyceridemia  (EXP,IEP)
inherited metabolic disorder  (IAGP)
Insulin Resistance  (IEP)
leptospirosis  (ISO)
Metabolic Syndrome  (IEP)
multiple sclerosis  (EXP)
muscular dystrophy  (EXP)
neuroblastoma  (EXP)
obesity  (EXP)
Organophosphate Poisoning  (EXP)
Paralysis  (EXP)
Paresis  (EXP)
Poisoning  (EXP)
Postoperative Complications  (EXP)
primary progressive multiple sclerosis  (IEP)
renal cell carcinoma  (EXP)
schizophrenia  (IEP)
secondary Parkinson disease  (EXP)
sleep apnea  (EXP)
Stroke  (IEP)
Tachycardia  (EXP)
toxic encephalopathy  (EXP)
Trismus  (EXP)
trypanosomiasis  (ISO)
type 1 diabetes mellitus  (IAGP)
type 2 diabetes mellitus  (IAGP,IDA,IEA)
visual epilepsy  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(2-chloroethyl)phosphonic acid  (EXP,ISO)
(R)-lipoic acid  (ISO)
(R,R)-tramadol  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-naringenin  (EXP)
1,2,3-Trichloropropane  (ISO)
17beta-estradiol  (ISO)
2,3,5,6,7,8-hexahydro-1H-cyclopenta[b]quinolin-9-amine  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5,6-trichloro-2-pyridinol  (EXP)
3,5,6-trichloropyridine-2-one  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5,5-diethylbarbituric acid  (ISO)
6-Acetylmorphine  (EXP)
acephate  (ISO)
acetamide  (ISO)
acetylcholine  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
alpha-linolenic acid  (EXP)
ammonium chloride  (ISO)
amodiaquine  (EXP)
aristolochic acid  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
atropine  (EXP,ISO)
Avizafone  (EXP)
bambuterol  (EXP,ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
benzoic acid  (EXP,ISO)
Benzoylcholine  (EXP)
bicalutamide  (EXP)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
butyrylthiocholine  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbaryl  (ISO)
carbofuran  (EXP,ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorphenamine  (EXP)
chlorpyrifos  (EXP,ISO)
choline  (EXP)
chrysene  (ISO)
cinchocaine  (EXP)
cisplatin  (EXP)
cobalt dichloride  (ISO)
cocaine  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
Cryptotanshinone  (EXP)
Cuprizon  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (EXP)
decamethonium  (EXP)
demeton-S-methyl  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diacetylmonoxime  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP,ISO)
diazoxon  (EXP,ISO)
dichlorvos  (EXP,ISO)
diethylstilbestrol  (ISO)
diisopropyl fluorophosphate  (EXP,ISO)
dimenhydrinate  (EXP)
dimethoate  (EXP,ISO)
diphenhydramine  (EXP)
Diphosphoramide, N,N',N'',N'''-tetrakis(1-methylethyl)-  (EXP,ISO)
donepezil hydrochloride  (EXP,ISO)
dorsomorphin  (EXP)
ecgonine methyl ester  (EXP,ISO)
ecothiopate iodide  (EXP)
edrophonium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
fenthion  (EXP)
ferulic acid  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
formetanate  (ISO)
fucoxanthin  (ISO)
furan  (ISO)
galanthamine  (EXP,ISO)
galanthamine Trifluoroacetic acid  (EXP,ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP)
glucose  (ISO)
glyphosate  (EXP)
heroin  (EXP)
HLo7  (EXP)
homocysteine  (ISO)
ifosfamide  (ISO)
imidacloprid  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indole-3-butyric acid  (ISO)
indometacin  (EXP)
isoflurane  (ISO)
Isosorbide  (EXP,ISO)
Kokusaginine  (EXP)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
linoleic acid  (EXP)
lipoic acid  (ISO)
lycopene  (ISO)
magnesium sulfate  (ISO)
malachite green cation  (EXP)
malaoxon  (EXP)
malathion  (EXP,ISO)
melphalan  (EXP)
mepyramine  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
methamidophos  (EXP,ISO)
methiocarb  (ISO)
methomyl  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
metoclopramide  (EXP)
Mipafox  (EXP)
Mivacurium  (EXP)
monosodium L-glutamate  (ISO)
morin  (ISO)
morphine  (EXP)
N,N-diethyl-m-toluamide  (EXP,ISO)
N-acetyl-L-cysteine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (EXP)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
naringin  (ISO)
neostigmine  (EXP)
nickel atom  (EXP)
o-cresol  (EXP)
omethoate  (EXP)
organophosphorus compound  (EXP,ISO)
oxamyl  (ISO)
oxydemeton-methyl  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
paraoxon  (EXP,ISO)
Paraoxon-methyl  (EXP,ISO)
paraquat  (EXP,ISO)
pararosaniline free base  (EXP)
parathion  (EXP,ISO)
parathion-methyl  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
permethrin  (ISO)
Phenelzine  (EXP)
phenobarbital  (ISO)
phenothiazines  (EXP)
phenyl acetate  (EXP)
phenylmercury acetate  (EXP)
phenylmethanesulfonyl fluoride  (EXP)
phloretin  (ISO)
phorate  (ISO)
phosphoryl trichloride  (EXP,ISO)
phoxim  (ISO)
physostigmine  (EXP,ISO)
pioglitazone  (ISO)
piperidine  (EXP)
pirinixic acid  (EXP,ISO)
pralidoxime  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
profenamine  (EXP,ISO)
profenofos  (ISO)
promazine  (EXP)
promethazine  (EXP,ISO)
propidium  (EXP)
Propionylcholine  (ISO)
propoxur  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (ISO)
quinalphos  (EXP)
ranitidine  (EXP)
resveratrol  (EXP,ISO)
rivastigmine  (EXP,ISO)
rotenone  (EXP,ISO)
salicyl alcohol  (EXP)
sarin  (EXP,ISO)
SB 431542  (EXP)
silicon atom  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (EXP)
solanidine  (EXP)
solasodine  (EXP)
Soman  (EXP,ISO)
streptozocin  (ISO)
succinylcholine  (EXP)
sulforaphane  (ISO)
sunitinib  (EXP)
tacrine  (EXP,ISO)
tapentadol  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetraethylammonium  (EXP)
tetramethylammonium  (EXP)
thiazolidines  (EXP)
Thiotepa  (EXP)
Tiapamil  (EXP)
tomatidine  (EXP)
tramadol  (ISO)
trichlorfon  (EXP,ISO)
trichostatin A  (EXP)
Tripelennamine  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP,ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
vorinostat  (EXP)
VX nerve agent  (EXP)
zinc oxide  (ISO)
zingerone  (ISO)
zoledronic acid  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Abbott CA, etal., Clin Sci (Lond). 1993 Jul;85(1):77-81.
2. Alcântara VM, etal., Scand J Clin Lab Invest. 2002;62(5):399-404.
3. Basu PS, etal., Clin Chim Acta. 1995 Feb 28;235(1):107-12.
4. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
5. Ben Assayag E, etal., Mol Med. 2010 Jul-Aug;16(7-8):278-86. doi: 10.2119/molmed.2010.00015. Epub 2010 Apr 14.
6. Berg RM, etal., Scand J Clin Lab Invest. 2011 Jul;71(4):350-2. doi: 10.3109/00365513.2011.558107. Epub 2011 Feb 8.
7. da Silva CB, etal., J Med Microbiol. 2012 Feb;61(Pt 2):278-84. doi: 10.1099/jmm.0.035501-0. Epub 2011 Sep 15.
8. Darreh-Shori T, etal., J Alzheimers Dis. 2012;28(2):443-58. doi: 10.3233/JAD-2011-111088.
9. Darreh-Shori T, etal., Neurobiol Dis. 2006 Nov;24(2):326-33. Epub 2006 Sep 14.
10. Darvesh S, etal., Chem Biol Interact. 2010 Sep 6;187(1-3):425-31. doi: 10.1016/j.cbi.2010.01.037. Epub 2010 Feb 1.
11. Darvesh S, etal., J Neuropathol Exp Neurol. 2012 Jan;71(1):2-14. doi: 10.1097/NEN.0b013e31823cc7a6.
12. Dave KR and Katyare SS, J Endocrinol. 2002 Oct;175(1):241-50.
13. GOA_HUMAN data from the GO Consortium
14. Gresner P, etal., Biochim Biophys Acta. 2006 Feb;1760(2):207-15. Epub 2005 Dec 21.
15. Hashim Y, etal., Diabetologia. 2001 Dec;44(12):2227-30.
16. Iwasaki T, etal., Intern Med. 2007;46(19):1633-9. Epub 2007 Oct 1.
17. Kálmán J, etal., Life Sci. 2004 Jul 23;75(10):1195-204.
18. Lepienski LM, etal., Diabetes Obes Metab. 2006 Nov;8(6):709-11.
19. Mabrouk H, etal., Ann Biol Clin (Paris). 2011 Nov-Dec;69(6):647-52. doi: 10.1684/abc.2011.0634.
20. Matté C, etal., Int J Dev Neurosci. 2006 Feb;24(1):3-8. Epub 2006 Jan 25.
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24. Oguri M, etal., Atherosclerosis. 2007 Oct;194(2):e172-8. Epub 2007 Feb 1.
25. OMIM Disease Annotation Pipeline
26. Pipeline to import SMPDB annotations from SMPDB into RGD
27. Ramkumar KM, etal., J Basic Clin Physiol Pharmacol. 2005;16(1):17-35.
28. Randell EW, etal., Clin Biochem. 2005 Sep;38(9):799-805.
29. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
30. RGD automated import pipeline for gene-chemical interactions
31. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
32. Ruberg M, etal., J Neurol Neurosurg Psychiatry. 1987 May;50(5):538-43.
33. Sakamoto N, etal., Clin Chim Acta. 1998 Jun 22;274(2):159-66.
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35. Vaisi-Raygani A, etal., Scand J Clin Lab Invest. 2008;68(2):123-9. Epub 2007 Nov 21.
36. Wolkmer P, etal., Exp Parasitol. 2010 Jul;125(3):251-5. doi: 10.1016/j.exppara.2010.01.024. Epub 2010 Feb 6.
37. Yoo DY, etal., Neurochem Int. 2011 Oct;59(5):722-8. doi: 10.1016/j.neuint.2011.06.021. Epub 2011 Jul 13.
Additional References at PubMed
PMID:1769657   PMID:1769658   PMID:2318303   PMID:2322535   PMID:2339692   PMID:2758686   PMID:3035536   PMID:3067729   PMID:3115973   PMID:3477799   PMID:3542989   PMID:8063698  
PMID:8622553   PMID:8680411   PMID:8930175   PMID:9543549   PMID:9673783   PMID:10529218   PMID:11125748   PMID:11329013   PMID:11436125   PMID:11569538   PMID:11725818   PMID:11738493  
PMID:11749053   PMID:11848688   PMID:11849755   PMID:11856322   PMID:11856351   PMID:12003252   PMID:12009429   PMID:12044901   PMID:12074828   PMID:12130740   PMID:12387584   PMID:12417112  
PMID:12477932   PMID:12668920   PMID:12687586   PMID:12724618   PMID:12811800   PMID:12869558   PMID:12881446   PMID:12901493   PMID:14622273   PMID:14686935   PMID:14718574   PMID:14735258  
PMID:14760718   PMID:15028279   PMID:15060281   PMID:15111428   PMID:15258737   PMID:15386241   PMID:15449725   PMID:15465921   PMID:15489334   PMID:15519745   PMID:15690550   PMID:15696543  
PMID:15731585   PMID:15781196   PMID:15802910   PMID:15834019   PMID:16020944   PMID:16105444   PMID:16213467   PMID:16278840   PMID:16288482   PMID:16289064   PMID:16298355   PMID:16335952  
PMID:16344560   PMID:16429499   PMID:16504521   PMID:16731619   PMID:16788378   PMID:16801396   PMID:16824336   PMID:16909200   PMID:16962996   PMID:17116317   PMID:17192624   PMID:17318303  
PMID:17335779   PMID:17350607   PMID:17410321   PMID:17503475   PMID:17660298   PMID:17690023   PMID:17698511   PMID:17700357   PMID:17701416   PMID:17768338   PMID:17923322   PMID:17996334  
PMID:18075469   PMID:18076380   PMID:18165570   PMID:18237553   PMID:18290843   PMID:18300943   PMID:18322399   PMID:18334913   PMID:18422653   PMID:18457821   PMID:18550040   PMID:18555211  
PMID:18640242   PMID:18778798   PMID:18780301   PMID:19006190   PMID:19010318   PMID:19019080   PMID:19056482   PMID:19156168   PMID:19217865   PMID:19383604   PMID:19452557   PMID:19474452  
PMID:19481150   PMID:19578796   PMID:19617863   PMID:19685167   PMID:19713000   PMID:19913121   PMID:19956635   PMID:20056567   PMID:20058037   PMID:20143968   PMID:20193849   PMID:20308990  
PMID:20356562   PMID:20379614   PMID:20399202   PMID:20445134   PMID:20529763   PMID:20538374   PMID:20628086   PMID:20644562   PMID:20677742   PMID:20807286   PMID:20879632   PMID:20883446  
PMID:20886866   PMID:21029050   PMID:21059932   PMID:21402063   PMID:21454498   PMID:21473860   PMID:21493754   PMID:21530486   PMID:21547979   PMID:21576115   PMID:21862451   PMID:21873635  
PMID:21943158   PMID:22040426   PMID:22294139   PMID:22331678   PMID:22402324   PMID:22516433   PMID:22560633   PMID:22726956   PMID:22750491   PMID:22778864   PMID:22901043   PMID:22917637  
PMID:22922115   PMID:22935510   PMID:23000450   PMID:23022600   PMID:23044488   PMID:23063927   PMID:23092211   PMID:23123771   PMID:23419831   PMID:23466605   PMID:23508960   PMID:23650977  
PMID:23689009   PMID:23782236   PMID:24001779   PMID:24041656   PMID:24125115   PMID:24312228   PMID:24399815   PMID:24446003   PMID:24473115   PMID:24479631   PMID:24870023   PMID:24951323  
PMID:25179377   PMID:25264279   PMID:25336127   PMID:25447891   PMID:25448037   PMID:25471831   PMID:25835709   PMID:25933219   PMID:26186194   PMID:26189613   PMID:26223693   PMID:26439437  
PMID:26496610   PMID:26497592   PMID:26757188   PMID:26922910   PMID:26955768   PMID:27031121   PMID:27062896   PMID:27106529   PMID:27109752   PMID:27468571   PMID:27551784   PMID:27567841  
PMID:27911294   PMID:28225154   PMID:28465191   PMID:28514442   PMID:28544359   PMID:28698452   PMID:29177431   PMID:29254094   PMID:29358722   PMID:29393817   PMID:29631548   PMID:30052110  
PMID:30061034   PMID:30093245   PMID:30385318   PMID:30410011   PMID:30707402   PMID:30914707   PMID:31071335   PMID:31391242   PMID:32006676   PMID:32250307   PMID:32296183   PMID:32409323  
PMID:32705955   PMID:32814053   PMID:32859055   PMID:32998065   PMID:33375115   PMID:33617373   PMID:33961781   PMID:34299650  


Genomics

Comparative Map Data
BCHE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3165,772,904 - 165,837,462 (-)EnsemblGRCh38hg38GRCh38
GRCh383165,772,904 - 165,837,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373165,490,692 - 165,555,211 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363166,973,386 - 167,037,947 (-)NCBINCBI36hg18NCBI36
Build 343166,973,394 - 167,037,952NCBI
Celera3163,889,280 - 163,954,027 (-)NCBI
Cytogenetic Map3q26.1NCBI
HuRef3162,859,251 - 162,924,002 (-)NCBIHuRef
CHM1_13165,453,437 - 165,518,145 (-)NCBICHM1_1
Bche
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39373,543,138 - 73,615,767 (-)NCBIGRCm39mm39
GRCm39 Ensembl373,543,141 - 73,615,748 (-)Ensembl
GRCm38373,635,805 - 73,708,436 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl373,635,808 - 73,708,415 (-)EnsemblGRCm38mm10GRCm38
MGSCv37373,439,731 - 73,512,337 (-)NCBIGRCm37mm9NCBIm37
MGSCv36373,721,734 - 73,794,168 (-)NCBImm8
Celera373,748,016 - 73,817,761 (-)NCBICelera
Cytogenetic Map3E3NCBI
Bche
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22158,308,674 - 158,401,148 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2158,307,584 - 158,401,148 (-)Ensembl
Rnor_6.02171,104,476 - 171,196,186 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2171,100,140 - 171,196,395 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02190,443,044 - 190,536,106 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42164,329,613 - 164,427,994 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12164,279,575 - 164,377,957 (-)NCBI
Celera2152,547,587 - 152,638,478 (-)NCBICelera
Cytogenetic Map2q32NCBI
Bche
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544815,329,273 - 15,396,970 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544815,327,374 - 15,396,827 (-)NCBIChiLan1.0ChiLan1.0
BCHE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13170,845,494 - 170,910,662 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3170,845,494 - 170,911,481 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03162,794,184 - 162,858,574 (-)NCBIMhudiblu_PPA_v0panPan3
BCHE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13430,912,632 - 30,977,624 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3430,912,632 - 30,977,583 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3439,973,463 - 40,038,402 (-)NCBI
ROS_Cfam_1.03430,973,335 - 31,038,334 (-)NCBI
UMICH_Zoey_3.13430,917,722 - 30,976,598 (-)NCBI
UNSW_CanFamBas_1.03430,878,067 - 30,943,017 (-)NCBI
UU_Cfam_GSD_1.03431,141,049 - 31,206,522 (-)NCBI
Bche
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560297,068,925 - 97,127,830 (-)NCBI
SpeTri2.0NW_0049367071,784,338 - 1,913,401 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCHE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113104,946,732 - 105,007,568 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213113,411,303 - 113,471,727 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCHE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11523,708,121 - 23,778,027 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1523,708,155 - 23,778,286 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606332,661,071 - 32,730,874 (+)NCBIVero_WHO_p1.0
Bche
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473043,793,550 - 43,849,169 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:177095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,548,440 - 165,548,626UniSTSGRCh37
Build 363167,031,134 - 167,031,320RGDNCBI36
Celera3163,947,218 - 163,947,404RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,917,193 - 162,917,379UniSTS
GDB:177651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,503,851 - 165,504,186UniSTSGRCh37
Build 363166,986,545 - 166,986,880RGDNCBI36
Celera3163,902,438 - 163,902,773RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,872,412 - 162,872,747UniSTS
GDB:177652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,491,098 - 165,491,363UniSTSGRCh37
Build 363166,973,792 - 166,974,057RGDNCBI36
Celera3163,889,687 - 163,889,952RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,658 - 162,859,923UniSTS
GDB:363550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,491,164 - 165,491,309UniSTSGRCh37
Build 363166,973,858 - 166,974,003RGDNCBI36
Celera3163,889,753 - 163,889,898RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,724 - 162,859,869UniSTS
GDB:363553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,491,164 - 165,491,309UniSTSGRCh37
Build 363166,973,858 - 166,974,003RGDNCBI36
Celera3163,889,753 - 163,889,898RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,724 - 162,859,869UniSTS
GDB:580568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,548,315 - 165,548,779UniSTSGRCh37
Build 363167,031,009 - 167,031,473RGDNCBI36
Celera3163,947,093 - 163,947,557RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,917,068 - 162,917,532UniSTS
GDB:580574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,281,413 - 6,281,458UniSTSGRCh37
GRCh373165,547,275 - 165,548,362UniSTSGRCh37
Build 363167,029,969 - 167,031,056RGDNCBI36
Celera3163,946,053 - 163,947,140RGD
Celera176,301,948 - 6,301,993UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,916,028 - 162,917,115UniSTS
HuRef176,176,468 - 6,176,513UniSTS
GDB:580578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,503,898 - 165,504,133UniSTSGRCh37
Build 363166,986,592 - 166,986,827RGDNCBI36
Celera3163,902,485 - 163,902,720RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,872,459 - 162,872,694UniSTS
GDB:580581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,491,137 - 165,491,325UniSTSGRCh37
Build 363166,973,831 - 166,974,019RGDNCBI36
Celera3163,889,726 - 163,889,914RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,697 - 162,859,885UniSTS
GDB:632859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,491,258 - 165,491,363UniSTSGRCh37
Build 363166,973,952 - 166,974,057RGDNCBI36
Celera3163,889,847 - 163,889,952RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,818 - 162,859,923UniSTS
GDB:632866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,491,098 - 165,491,300UniSTSGRCh37
Build 363166,973,792 - 166,973,994RGDNCBI36
Celera3163,889,687 - 163,889,889RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,658 - 162,859,860UniSTS
G64459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,518,576 - 165,518,836UniSTSGRCh37
Build 363167,001,270 - 167,001,530RGDNCBI36
Celera3163,917,349 - 163,917,609RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,887,322 - 162,887,582UniSTS
SHGC-105146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,504,532 - 165,504,809UniSTSGRCh37
Build 363166,987,226 - 166,987,503RGDNCBI36
Celera3163,903,119 - 163,903,396RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,873,093 - 162,873,370UniSTS
TNG Radiation Hybrid Map392949.0UniSTS
WI-18944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,490,856 - 165,491,128UniSTSGRCh37
Build 363166,973,550 - 166,973,822RGDNCBI36
Celera3163,889,444 - 163,889,717RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,415 - 162,859,688UniSTS
GeneMap99-GB4 RH Map3610.4UniSTS
Whitehead-RH Map3746.1UniSTS
NCBI RH Map31447.3UniSTS
BCHE_4440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,490,535 - 165,491,224UniSTSGRCh37
Build 363166,973,229 - 166,973,918RGDNCBI36
Celera3163,889,123 - 163,889,813RGD
HuRef3162,859,094 - 162,859,784UniSTS
BCHE  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,548,268 - 165,548,425UniSTSGRCh37
GRCh373165,547,426 - 165,547,581UniSTSGRCh37
Build 363167,030,962 - 167,031,119RGDNCBI36
Celera3163,946,204 - 163,946,359UniSTS
Celera3163,947,046 - 163,947,203RGD
HuRef3162,917,021 - 162,917,178UniSTS
HuRef3162,916,179 - 162,916,334UniSTS
D3S3886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,490,850 - 165,490,940UniSTSGRCh37
Build 363166,973,544 - 166,973,634RGDNCBI36
Celera3163,889,438 - 163,889,529RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,409 - 162,859,500UniSTS
TNG Radiation Hybrid Map392965.0UniSTS
Stanford-G3 RH Map37421.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
GeneMap99-G3 RH Map37891.0UniSTS
STS-M16541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,490,843 - 165,491,003UniSTSGRCh37
Build 363166,973,537 - 166,973,697RGDNCBI36
Celera3163,889,431 - 163,889,592RGD
Cytogenetic Map3q26.1-q26.2UniSTS
HuRef3162,859,402 - 162,859,563UniSTS
GeneMap99-GB4 RH Map3610.67UniSTS
NCBI RH Map31454.3UniSTS
BCHE  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373165,548,268 - 165,548,425UniSTSGRCh37
GRCh373165,547,426 - 165,547,581UniSTSGRCh37
Build 363167,030,962 - 167,031,119RGDNCBI36
Celera3163,946,204 - 163,946,359UniSTS
Celera3163,947,046 - 163,947,203RGD
HuRef3162,917,021 - 162,917,178UniSTS
HuRef3162,916,179 - 162,916,334UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:923
Count of miRNA genes:330
Interacting mature miRNAs:347
Transcripts:ENST00000264381, ENST00000479451, ENST00000482958, ENST00000488954, ENST00000497011, ENST00000540653
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 1476 62 342 327 120 328 205 883 189 66 274 322 4 1 378 70 1
Low 685 1694 1191 182 582 115 3265 735 3386 198 913 1087 71 689 1999 1 2
Below cutoff 199 893 177 110 602 14 874 570 155 123 208 136 98 136 714 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_137635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_137636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL706210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF056152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG460576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA426203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU142157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM764170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ513458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ513459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264381   ⟹   ENSP00000264381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3165,772,904 - 165,837,423 (-)Ensembl
RefSeq Acc Id: ENST00000479451   ⟹   ENSP00000418325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3165,773,079 - 165,837,420 (-)Ensembl
RefSeq Acc Id: ENST00000482958   ⟹   ENSP00000419804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3165,772,905 - 165,837,462 (-)Ensembl
RefSeq Acc Id: ENST00000488954   ⟹   ENSP00000418504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3165,778,274 - 165,837,420 (-)Ensembl
RefSeq Acc Id: ENST00000497011   ⟹   ENSP00000419505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3165,772,905 - 165,837,462 (-)Ensembl
RefSeq Acc Id: NM_000055   ⟹   NP_000046
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383165,772,904 - 165,837,423 (-)NCBI
GRCh373165,490,692 - 165,555,260 (-)NCBI
Build 363166,973,386 - 167,037,947 (-)NCBI Archive
HuRef3162,859,251 - 162,924,002 (-)ENTREZGENE
CHM1_13165,453,437 - 165,518,145 (-)NCBI
Sequence:
RefSeq Acc Id: NR_137635
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383165,772,904 - 165,837,423 (-)NCBI
Sequence:
RefSeq Acc Id: NR_137636
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383165,772,904 - 165,837,423 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000046   ⟸   NM_000055
- Peptide Label: precursor
- UniProtKB: P06276 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000418325   ⟸   ENST00000479451
RefSeq Acc Id: ENSP00000419804   ⟸   ENST00000482958
RefSeq Acc Id: ENSP00000419505   ⟸   ENST00000497011
RefSeq Acc Id: ENSP00000418504   ⟸   ENST00000488954
RefSeq Acc Id: ENSP00000264381   ⟸   ENST00000264381
Protein Domains
AChE_tetra   COesterase

Promoters
RGD ID:6866202
Promoter ID:EPDNEW_H6266
Type:initiation region
Name:BCHE_1
Description:butyrylcholinesterase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383165,837,494 - 165,837,554EPDNEW
RGD ID:6800663
Promoter ID:HG_KWN:46624
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_000055,   UC003FEN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 363167,037,606 - 167,038,106 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
BCHE, ALU INS, EX2 insertion Deficiency of butyrylcholine esterase [RCV000014129] Chr3:3q26.1-q26.2 pathogenic
BCHE*FS126 deletion Postanesthetic apnea [RCV000014133] Chr3:3q26.1-q26.2 pathogenic|affects
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000277104]|Postanesthetic apnea [RCV000014102]|not provided [RCV001092437] Chr3:165830741 [GRCh38]
Chr3:165548529 [GRCh37]
Chr3:3q26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000055.4(BCHE):c.508G>A (p.Val170Met) single nucleotide variant Bche, h variant [RCV000014110] Chr3:165830526 [GRCh38]
Chr3:165548314 [GRCh37]
Chr3:3q26.1
pathogenic
NM_000055.2(BCHE):c.812C>T (p.Thr271Met) single nucleotide variant BCHE, flouride 1 [RCV000014112]|Deficiency of butyrylcholine esterase [RCV000779401] Chr3:165830222 [GRCh38]
Chr3:165548010 [GRCh37]
Chr3:3q26.1
pathogenic|likely pathogenic
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) single nucleotide variant BCHE, fluoride 2 [RCV000014116]|Deficiency of butyrylcholine esterase [RCV000360109] Chr3:165829781 [GRCh38]
Chr3:165547569 [GRCh37]
Chr3:3q26.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) single nucleotide variant Butyrylcholinesterase activity [RCV000014120]|Deficiency of butyrylcholine esterase [RCV000309118] Chr3:165773492 [GRCh38]
Chr3:165491280 [GRCh37]
Chr3:3q26.1
pathogenic|benign|likely benign|conflicting data from submitters
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val) single nucleotide variant Bche, j variant [RCV000014124] Chr3:165786255 [GRCh38]
Chr3:165504043 [GRCh37]
Chr3:3q26.1
pathogenic
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) single nucleotide variant Butyrylcholinesterase deficiency, fluoride-resistant, japanese type [RCV000014130]|Deficiency of butyrylcholine esterase [RCV000665725] Chr3:165829962 [GRCh38]
Chr3:165547750 [GRCh37]
Chr3:3q26.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000014131] Chr3:165830567 [GRCh38]
Chr3:165548355 [GRCh37]
Chr3:3q26.1
pathogenic
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000014132] Chr3:165830030 [GRCh38]
Chr3:165547818 [GRCh37]
Chr3:3q26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
BCHE, GLY115ASP AND IVS3AS, T-C, -14 single nucleotide variant Postanesthetic apnea [RCV000014135] Chr3:3q26.1-q26.2 pathogenic
NM_000055.2(BCHE):c.435delTinsAG (p.Phe146Valfs) indel Deficiency of butyrylcholine esterase [RCV000014106] Chr3:165830599 [GRCh38]
Chr3:165548387 [GRCh37]
Chr3:3q26.1
pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_000055.2(BCHE):c.1353C>T (p.His451=) single nucleotide variant Malignant melanoma [RCV000065907] Chr3:165829681 [GRCh38]
Chr3:165547469 [GRCh37]
Chr3:167030163 [NCBI36]
Chr3:3q26.1
not provided
NM_000055.4(BCHE):c.2T>C (p.Met1Thr) single nucleotide variant Suxamethonium response - slow metabolism [RCV000659258] Chr3:165831032 [GRCh38]
Chr3:165548820 [GRCh37]
Chr3:3q26.1
drug response
NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000409122] Chr3:165829750 [GRCh38]
Chr3:165547538 [GRCh37]
Chr3:3q26.1
likely pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_000055.4(BCHE):c.509T>C (p.Val170Ala) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000261632] Chr3:165830525 [GRCh38]
Chr3:165548313 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1178G>T (p.Gly393Val) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000265515] Chr3:165829856 [GRCh38]
Chr3:165547644 [GRCh37]
Chr3:3q26.1
uncertain significance
BCHE Newfoundland variation BCHE Newfoundland [RCV000014126] Chr3:3q26.1-q26.2 pathogenic
BCHE Cynthiana variation BCHE Cynthiana [RCV000014127] Chr3:3q26.1-q26.2 pathogenic
BCHE Johannesburg variation BCHE Johannesburg [RCV000014128] Chr3:3q26.1-q26.2 pathogenic
NM_000055.4(BCHE):c.*180G>A single nucleotide variant Deficiency of butyrylcholine esterase [RCV000279644] Chr3:165773202 [GRCh38]
Chr3:165490990 [GRCh37]
Chr3:3q26.1
likely benign|uncertain significance
NM_000055.4(BCHE):c.*285T>C single nucleotide variant Deficiency of butyrylcholine esterase [RCV000283048] Chr3:165773097 [GRCh38]
Chr3:165490885 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000666412]|not specified [RCV000251520] Chr3:165830185 [GRCh38]
Chr3:165547973 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000055.4(BCHE):c.*189G>A single nucleotide variant Deficiency of butyrylcholine esterase [RCV000374138] Chr3:165773193 [GRCh38]
Chr3:165490981 [GRCh37]
Chr3:3q26.1
benign
NM_000055.4(BCHE):c.1137G>A (p.Gln379=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000301933] Chr3:165829897 [GRCh38]
Chr3:165547685 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.435_436insG (p.Phe146fs) insertion Deficiency of butyrylcholine esterase [RCV000316818] Chr3:165830598..165830599 [GRCh38]
Chr3:165548386..165548387 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1077C>T (p.Val359=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000356520] Chr3:165829957 [GRCh38]
Chr3:165547745 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1736A>G (p.Asn579Ser) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000404222] Chr3:165773455 [GRCh38]
Chr3:165491243 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1327A>C (p.Asn443His) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000305441]|not provided [RCV000942318] Chr3:165829707 [GRCh38]
Chr3:165547495 [GRCh37]
Chr3:3q26.1
likely benign|uncertain significance
NM_000055.3(BCHE):c.-131A>G single nucleotide variant Deficiency of butyrylcholine esterase [RCV000292347] Chr3:165837436 [GRCh38]
Chr3:165555224 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1518-6A>G single nucleotide variant Deficiency of butyrylcholine esterase [RCV000345200]|not provided [RCV000964253] Chr3:165786317 [GRCh38]
Chr3:165504105 [GRCh37]
Chr3:3q26.1
benign|uncertain significance
NM_000055.4(BCHE):c.*139T>A single nucleotide variant Deficiency of butyrylcholine esterase [RCV000389298] Chr3:165773243 [GRCh38]
Chr3:165491031 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1770C>T (p.Asn590=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000349986] Chr3:165773421 [GRCh38]
Chr3:165491209 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000371428] Chr3:165830606 [GRCh38]
Chr3:165548394 [GRCh37]
Chr3:3q26.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000055.4(BCHE):c.1438A>G (p.Arg480Gly) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000394162] Chr3:165829596 [GRCh38]
Chr3:165547384 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*293dup duplication Deficiency of butyrylcholine esterase [RCV000377387] Chr3:165773088..165773089 [GRCh38]
Chr3:165490876..165490877 [GRCh37]
Chr3:3q26.1
benign
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000490265] Chr3:165829857 [GRCh38]
Chr3:165547645 [GRCh37]
Chr3:3q26.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000490369] Chr3:165830150 [GRCh38]
Chr3:165547938 [GRCh37]
Chr3:3q26.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_000055.4(BCHE):c.186A>G (p.Ala62=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000332191] Chr3:165830848 [GRCh38]
Chr3:165548636 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*52A>G single nucleotide variant Deficiency of butyrylcholine esterase [RCV000295109] Chr3:165773330 [GRCh38]
Chr3:165491118 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*237A>G single nucleotide variant Deficiency of butyrylcholine esterase [RCV000319380] Chr3:165773145 [GRCh38]
Chr3:165490933 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*174C>T single nucleotide variant Deficiency of butyrylcholine esterase [RCV000334713] Chr3:165773208 [GRCh38]
Chr3:165490996 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.-8-6_-8-3del deletion Deficiency of butyrylcholine esterase [RCV000386594] Chr3:165831044..165831047 [GRCh38]
Chr3:165548832..165548835 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*400T>C single nucleotide variant Deficiency of butyrylcholine esterase [RCV000322716] Chr3:165772982 [GRCh38]
Chr3:165490770 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.206_207del (p.Leu69fs) deletion Deficiency of butyrylcholine esterase [RCV000409316] Chr3:165830827..165830828 [GRCh38]
Chr3:165548615..165548616 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000409809] Chr3:165829851 [GRCh38]
Chr3:165547639 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000409949] Chr3:165786301 [GRCh38]
Chr3:165504089 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1330G>A (p.Ala444Thr) single nucleotide variant Pseudocholinesterase deficiency [RCV000415692] Chr3:165829704 [GRCh38]
Chr3:165547492 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.493del (p.Glu165fs) deletion Deficiency of butyrylcholine esterase [RCV000410237] Chr3:165830541 [GRCh38]
Chr3:165548329 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1517+1G>T single nucleotide variant Deficiency of butyrylcholine esterase [RCV000410375] Chr3:165829516 [GRCh38]
Chr3:165547304 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1685-2A>G single nucleotide variant Deficiency of butyrylcholine esterase [RCV000412448] Chr3:165773508 [GRCh38]
Chr3:165491296 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1073dup (p.Leu358fs) duplication Deficiency of butyrylcholine esterase [RCV000410462] Chr3:165829960..165829961 [GRCh38]
Chr3:165547748..165547749 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.895G>T (p.Glu299Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000409335] Chr3:165830139 [GRCh38]
Chr3:165547927 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.439C>T (p.Gln147Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000409468] Chr3:165830595 [GRCh38]
Chr3:165548383 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.495_498del (p.Arg166fs) deletion Deficiency of butyrylcholine esterase [RCV000409931] Chr3:165830536..165830539 [GRCh38]
Chr3:165548324..165548327 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.666_667del (p.Phe223fs) microsatellite Deficiency of butyrylcholine esterase [RCV000410506] Chr3:165830367..165830368 [GRCh38]
Chr3:165548155..165548156 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.793del (p.Tyr265fs) deletion Deficiency of butyrylcholine esterase [RCV000410837] Chr3:165830241 [GRCh38]
Chr3:165548029 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.757G>T (p.Gly253Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000411278] Chr3:165830277 [GRCh38]
Chr3:165548065 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000412062] Chr3:165830399 [GRCh38]
Chr3:165548187 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1684+1G>T single nucleotide variant Deficiency of butyrylcholine esterase [RCV000410863] Chr3:165786144 [GRCh38]
Chr3:165503932 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000411256] Chr3:165786253 [GRCh38]
Chr3:165504041 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1240del (p.Arg414fs) deletion Deficiency of butyrylcholine esterase [RCV000411420] Chr3:165829794 [GRCh38]
Chr3:165547582 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000412007] Chr3:165830019 [GRCh38]
Chr3:165547807 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.110del (p.Lys37fs) deletion Deficiency of butyrylcholine esterase [RCV000412019] Chr3:165830924 [GRCh38]
Chr3:165548712 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.619C>T (p.Gln207Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000412077] Chr3:165830415 [GRCh38]
Chr3:165548203 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.100del (p.Ile34fs) deletion not provided [RCV000729775] Chr3:165830934 [GRCh38]
Chr3:165548722 [GRCh37]
Chr3:3q26.1
pathogenic
NM_000055.4(BCHE):c.1027dup (p.Thr343fs) duplication Deficiency of butyrylcholine esterase [RCV000411348] Chr3:165830006..165830007 [GRCh38]
Chr3:165547794..165547795 [GRCh37]
Chr3:3q26.1
likely pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q26.1(chr3:165491171-165547461)x1 copy number loss See cases [RCV000447073] Chr3:165491171..165547461 [GRCh37]
Chr3:3q26.1
likely benign
NM_000055.4(BCHE):c.1685-8T>G single nucleotide variant not provided [RCV000422498] Chr3:165773514 [GRCh38]
Chr3:165491302 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3q26.1(chr3:163657369-167073454)x1 copy number loss See cases [RCV000448579] Chr3:163657369..167073454 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)x3 copy number gain See cases [RCV000448072] Chr3:163595552..168022596 [GRCh37]
Chr3:3q26.1-26.2
uncertain significance
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_000055.4(BCHE):c.687del (p.Ala230fs) deletion Deficiency of butyrylcholine esterase [RCV000670091] Chr3:165830347 [GRCh38]
Chr3:165548135 [GRCh37]
Chr3:3q26.1
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000055.4(BCHE):c.1372dup (p.Trp458fs) duplication Deficiency of butyrylcholine esterase [RCV000664778] Chr3:165829661..165829662 [GRCh38]
Chr3:165547449..165547450 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000670633] Chr3:165830575 [GRCh38]
Chr3:165548363 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.307G>C (p.Gly103Arg) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000670637] Chr3:165830727 [GRCh38]
Chr3:165548515 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000670753] Chr3:165829537 [GRCh38]
Chr3:165547325 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.615G>A (p.Trp205Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000671697] Chr3:165830419 [GRCh38]
Chr3:165548207 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.149del (p.Gly50fs) deletion Deficiency of butyrylcholine esterase [RCV000665059] Chr3:165830885 [GRCh38]
Chr3:165548673 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1642C>T (p.Arg548Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000668235] Chr3:165786187 [GRCh38]
Chr3:165503975 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.611del (p.Gln204fs) deletion Deficiency of butyrylcholine esterase [RCV000674333] Chr3:165830423 [GRCh38]
Chr3:165548211 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1703_1720dup (p.Glu568_Ala573dup) duplication Deficiency of butyrylcholine esterase [RCV000666990] Chr3:165773470..165773471 [GRCh38]
Chr3:165491258..165491259 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000666287] Chr3:165830004 [GRCh38]
Chr3:165547792 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000667116] Chr3:165829812 [GRCh38]
Chr3:165547600 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000664821] Chr3:165829542 [GRCh38]
Chr3:165547330 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000670632] Chr3:165829967 [GRCh38]
Chr3:165547755 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000670739] Chr3:165830852 [GRCh38]
Chr3:165548640 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000671148] Chr3:165786245 [GRCh38]
Chr3:165504033 [GRCh37]
Chr3:3q26.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000667827] Chr3:165830652 [GRCh38]
Chr3:165548440 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.44G>A (p.Trp15Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000666225] Chr3:165830990 [GRCh38]
Chr3:165548778 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.570T>C (p.Ala190=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000671553] Chr3:165830464 [GRCh38]
Chr3:165548252 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.295C>T (p.Gln99Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000668197] Chr3:165830739 [GRCh38]
Chr3:165548527 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1504T>C (p.Phe502Leu) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000664620] Chr3:165829530 [GRCh38]
Chr3:165547318 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.662del (p.Thr221fs) deletion Deficiency of butyrylcholine esterase [RCV000664937] Chr3:165830372 [GRCh38]
Chr3:165548160 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.185C>T (p.Ala62Val) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000665129] Chr3:165830849 [GRCh38]
Chr3:165548637 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1(chr3:165369121-166538495)x1 copy number loss not provided [RCV000682326] Chr3:165369121..166538495 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.155C>T (p.Thr52Met) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000665690] Chr3:165830879 [GRCh38]
Chr3:165548667 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000666625] Chr3:165786202 [GRCh38]
Chr3:165503990 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1259TTG[1] (p.Val421del) microsatellite Deficiency of butyrylcholine esterase [RCV000666679] Chr3:165829770..165829772 [GRCh38]
Chr3:165547558..165547560 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000666275] Chr3:165829794 [GRCh38]
Chr3:165547582 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.1615dup (p.Met539fs) duplication Deficiency of butyrylcholine esterase [RCV000667622] Chr3:165786213..165786214 [GRCh38]
Chr3:165504001..165504002 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000055.4(BCHE):c.1122T>C (p.Thr374=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001147515] Chr3:165829912 [GRCh38]
Chr3:165547700 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*316T>A single nucleotide variant Deficiency of butyrylcholine esterase [RCV001149022] Chr3:165773066 [GRCh38]
Chr3:165490854 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.352G>T (p.Glu118Ter) single nucleotide variant not provided [RCV000998156] Chr3:165830682 [GRCh38]
Chr3:165548470 [GRCh37]
Chr3:3q26.1
likely pathogenic
NM_000055.4(BCHE):c.67A>G (p.Ile23Val) single nucleotide variant not provided [RCV000914046] Chr3:165830967 [GRCh38]
Chr3:165548755 [GRCh37]
Chr3:3q26.1
likely benign
NM_000055.4(BCHE):c.535C>T (p.Leu179=) single nucleotide variant not provided [RCV000899163] Chr3:165830499 [GRCh38]
Chr3:165548287 [GRCh37]
Chr3:3q26.1
likely benign
NM_000055.4(BCHE):c.16A>T (p.Thr6Ser) single nucleotide variant not provided [RCV000903685] Chr3:165831018 [GRCh38]
Chr3:165548806 [GRCh37]
Chr3:3q26.1
likely benign
NM_000055.4(BCHE):c.1684+3G>A single nucleotide variant not provided [RCV000966891] Chr3:165786142 [GRCh38]
Chr3:165503930 [GRCh37]
Chr3:3q26.1
benign
NM_000055.4(BCHE):c.1462G>A (p.Glu488Lys) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000779399] Chr3:165829572 [GRCh38]
Chr3:165547360 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1217dup (p.Asp406fs) duplication Deficiency of butyrylcholine esterase [RCV000779400] Chr3:165829816..165829817 [GRCh38]
Chr3:165547604..165547605 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000778687] Chr3:165830868 [GRCh38]
Chr3:165548656 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.786A>G (p.Thr262=) single nucleotide variant not provided [RCV000926529] Chr3:165830248 [GRCh38]
Chr3:165548036 [GRCh37]
Chr3:3q26.1
likely benign
GRCh37/hg19 3q26.1(chr3:165518858-165880413)x3 copy number gain not provided [RCV000845807] Chr3:165518858..165880413 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1199A>G (p.His400Arg) single nucleotide variant not provided [RCV000998155] Chr3:165829835 [GRCh38]
Chr3:165547623 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1027A>T (p.Thr343Ser) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001147516] Chr3:165830007 [GRCh38]
Chr3:165547795 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1613T>C (p.Ile538Thr) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001146599] Chr3:165786216 [GRCh38]
Chr3:165504004 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.435T>A (p.Gly145=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001147518] Chr3:165830599 [GRCh38]
Chr3:165548387 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.314A>G (p.His105Arg) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001150857] Chr3:165830720 [GRCh38]
Chr3:165548508 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1667A>T (p.Lys556Ile) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001146598] Chr3:165786162 [GRCh38]
Chr3:165503950 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*281A>C single nucleotide variant Deficiency of butyrylcholine esterase [RCV001150529] Chr3:165773101 [GRCh38]
Chr3:165490889 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1150A>G (p.Ile384Val) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001146602] Chr3:165829884 [GRCh38]
Chr3:165547672 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.-32G>A single nucleotide variant Deficiency of butyrylcholine esterase [RCV001150858] Chr3:165837337 [GRCh38]
Chr3:165555125 [GRCh37]
Chr3:3q26.1
benign
NM_000055.4(BCHE):c.813G>A (p.Thr271=) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001147517] Chr3:165830221 [GRCh38]
Chr3:165548009 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*39G>T single nucleotide variant Deficiency of butyrylcholine esterase [RCV001144648] Chr3:165773343 [GRCh38]
Chr3:165491131 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1685-14T>C single nucleotide variant Deficiency of butyrylcholine esterase [RCV001144651] Chr3:165773520 [GRCh38]
Chr3:165491308 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.*467C>G single nucleotide variant Deficiency of butyrylcholine esterase [RCV001149020] Chr3:165772915 [GRCh38]
Chr3:165490703 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.156G>A (p.Thr52=) single nucleotide variant not provided [RCV000906389] Chr3:165830878 [GRCh38]
Chr3:165548666 [GRCh37]
Chr3:3q26.1
likely benign
NM_000055.4(BCHE):c.*349G>A single nucleotide variant Deficiency of butyrylcholine esterase [RCV001149021] Chr3:165773033 [GRCh38]
Chr3:165490821 [GRCh37]
Chr3:3q26.1
likely benign
NM_000055.4(BCHE):c.*13C>T single nucleotide variant Deficiency of butyrylcholine esterase [RCV001144649] Chr3:165773369 [GRCh38]
Chr3:165491157 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1540A>T (p.Asn514Tyr) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001146600] Chr3:165786289 [GRCh38]
Chr3:165504077 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1802G>T (p.Gly601Val) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001144650] Chr3:165773389 [GRCh38]
Chr3:165491177 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_000055.4(BCHE):c.1513T>C (p.Tyr505His) single nucleotide variant Deficiency of butyrylcholine esterase [RCV001146601] Chr3:165829521 [GRCh38]
Chr3:165547309 [GRCh37]
Chr3:3q26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:983 AgrOrtholog
COSMIC BCHE COSMIC
Ensembl Genes ENSG00000114200 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418325 UniProtKB/TrEMBL
  ENSP00000418504 UniProtKB/TrEMBL
  ENSP00000419505 UniProtKB/TrEMBL
  ENSP00000419804 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000479451 UniProtKB/TrEMBL
  ENST00000482958 UniProtKB/TrEMBL
  ENST00000488954 UniProtKB/TrEMBL
  ENST00000497011 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114200 GTEx
HGNC ID HGNC:983 ENTREZGENE
Human Proteome Map BCHE Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AChE_tetra UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbesteraseB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboxylesterase_B_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboxylesterase_B_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cholinesterase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:590 UniProtKB/Swiss-Prot
NCBI Gene 590 ENTREZGENE
OMIM 177400 OMIM
  617936 OMIM
Pfam AChE_tetra UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COesterase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB BCHE RGD, PharmGKB
PRINTS CHOLNESTRASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARBOXYLESTERASE_B_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARBOXYLESTERASE_B_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CHLE_HUMAN UniProtKB/Swiss-Prot
  D3DNN4_HUMAN UniProtKB/TrEMBL
  F8WEX7_HUMAN UniProtKB/TrEMBL
  F8WF14_HUMAN UniProtKB/TrEMBL
  H0Y885_HUMAN UniProtKB/TrEMBL
  H7C4Y0_HUMAN UniProtKB/TrEMBL
  P06276 ENTREZGENE
  Q96HL2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K7P8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 BCHE  butyrylcholinesterase  CHE2  cholinesterase (serum) 2  Data Merged 737654 PROVISIONAL