mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for BCHE
Gene summary
Basic gene Info.Gene symbolBCHE
Gene namebutyrylcholinesterase
SynonymsCHE1|CHE2|E1
CytomapUCSC genome browser: 3q26.1-q26.2
Type of geneprotein-coding
RefGenesNM_000055.2,
Descriptionacylcholine acylhydrolasebutyrylcholine esterasecholine esterase IIcholinesterasecholinesterase (serum) 2cholinesterase 1pseudocholinesterase
Modification date20141207
dbXrefs MIM : 177400
HGNC : HGNC
Ensembl : ENSG00000114200
HPRD : 01519
Vega : OTTHUMG00000158131
ProteinUniProt: P06276
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BCHE
BioGPS: 590
PathwayNCI Pathway Interaction Database: BCHE
KEGG: BCHE
REACTOME: BCHE
Pathway Commons: BCHE
ContextiHOP: BCHE
ligand binding site mutation search in PubMed: BCHE
UCL Cancer Institute: BCHE
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for BCHE.1. "Huang X, Pan Y, Zheng F, Zhan CG. Reaction pathway and free energy profile for prechemical reaction step of human butyrylcholinesterase-catalyzed hydrolysis of (-)-cocaine by combined targeted molecular dynamics and potential of mean force simulations. J Phys Chem B. 2010 Oct 28;114(42):13545-54. doi: 10.1021/jp106539w. PubMed PMID: 20883001; PubMed Central PMCID: PMC2963084." 20883001

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for BCHE

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
M465M465VCOAD3
M465M465ICOAD3
M109E108QBLCA1
E471I470SCOAD1
W458P457LCOAD1
P217P217TCOAD1
M465M465TCOAD1
H466H466YCOAD1
R247R247TCOAD1
E471F472SCOAD1
P313,P309G311RCOAD1
S243S243LHNSC1
T551W550RKIRC1
Y265L264VLUAD1
F306E304KLUAD1
R543R543LLUAD1
Y468Y468CLUAD1
N134P132TLUAD1
H466H466QLUAD1
T551F549LLUAD1
K497V496MLUAD1
H451R452LLUAD1
K497R498LLUAD1
W259W259CLUAD1
K276A275DLUAD1
W458W458LLUSC1
P297D296HLUSC1
F306,V308V307ILUSC1
P313,P309G311VOV1
M465M465IOV1
E471F472LOV1
M109M109IOV1
T246T246ISKCM1
Q298E299KSKCM1
P429P429SSKCM1
Y360Y360HSTAD1
K159K159TSTAD1
Q298Q298HSTAD1
C428C428YSTAD1
P217P217ASTAD1
C94S92YUCEC1
L277G279SUCEC1
H451R452QUCEC1
Y448F446LUCEC1
G441G441VUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for BCHE
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
H466H466Y0.13154787
E471F472S-1.7000791
E471I470S-1.4754892
Y265L264V-1.3128105
M109M109I-1.3065798
K276A275D-1.2243791
F306E304K-1.2103215
E471F472L-1.1925209
K497V496M-1.122988
N134P132T-1.0001079
T551W550R-0.94520626
C428C428Y-0.87058794
Y360Y360H-0.86727885
W458W458L-0.86378299
M109E108Q-0.85201958
T551F549L-0.84368602
P217P217A-0.83870259
P297D296H-0.80138307
M465M465T-0.7411467
T246T246I-0.73195969
W259W259C-0.69534627
L277G279S-0.68691227
Q298Q298H-0.65271736
Y448F446L-0.64731039
P217P217T-0.63789726
H451R452Q-0.60258959
R247R247T-0.58288061
Y468Y468C-0.5716154
W458P457L-0.54566791
K159K159T-0.50379395
R543R543L-0.50003153
K497R498L-0.48517548
Q298E299K-0.47604488
P309G311R-0.4660511
P313G311R-0.4660511
V308V307I-0.46113552
F306V307I-0.46113552
M465M465V-0.45035716
P309G311V-0.43113116
P313G311V-0.43113116
P429P429S-0.38668355
S243S243L-0.35879913
M465M465I-0.35363799
G441G441V-0.34244429
H466H466Q-0.21047312
C94S92Y-0.06611174
H451R452L-0.008349785
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for BCHE from PDB
PDB IDPDB titlePDB structure
1P0ICrystal structure of human butyryl cholinesterase

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Differential gene expression and gene-gene network for BCHE
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types
BCHE_COAD_DE

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of BCHE and the right PPI network was created from samples without mutations in the LBS of BCHE. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

* In COAD


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Phenotype information for BCHE
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0002395Alzheimer Disease48Biomarker, GeneticVariation, PostTranslationalModification
umls:C0003578Apnea30Biomarker, Therapeutic
umls:C1412756BUTYRYLCHOLINESTERASE18Biomarker, GeneticVariation
umls:C0522224Paralysis10Biomarker, GeneticVariation
umls:C0028754Obesity9Biomarker, GeneticVariation
umls:C0700359Organophosphate Poisoning8Biomarker, GeneticVariation, Therapeutic
umls:C0236736Cocaine-Related Disorders7Therapeutic
umls:C1283400Butyrylcholinesterase deficiency6Biomarker, GeneticVariation
umls:C0036572Seizures4Biomarker, Therapeutic
umls:C0032343Poisoning4Therapeutic
umls:C1458155Breast Neoplasms2Biomarker
umls:C0007134Carcinoma, Renal Cell2Biomarker
umls:C0009241Cognition Disorders2Biomarker, Therapeutic
umls:C0017636Glioblastoma1Biomarker
umls:C0027819Neuroblastoma1Biomarker
umls:C1855794Bamforth syndrome1Biomarker
umls:C0011065Death1Therapeutic
umls:C3658338Drug-Related Side Effects and Adverse Reactions1Biomarker
umls:C0014549Epilepsy, Tonic-Clonic1Biomarker
umls:C0015644Fasciculation1Biomarker
umls:C0424295Hyperkinesis1Therapeutic
umls:C0020557Hypertriglyceridemia1Biomarker
umls:C0026769Multiple Sclerosis1Biomarker
umls:C0026850Muscular Dystrophies1Biomarker
umls:C0235032Neurotoxicity Syndromes1Therapeutic
umls:C0030552Paresis1Biomarker
umls:C0032787Postoperative Complications1Biomarker
umls:C0037315Sleep Apnea Syndromes1Biomarker
umls:C0039231Tachycardia1Therapeutic
umls:C0041105Trismus1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for BCHE
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00122CholineSmall molecule
WithdrawnDB00382TacrineSmall molecule
ApprovedDB00449DipivefrinSmall molecule
ApprovedDB00545PyridostigmineSmall molecule
ApprovedDB00674GalantamineSmall molecule
Approved|withdrawnDB00677IsoflurophateSmall molecule
Approved|vet_approvedDB00733PralidoximeSmall molecule
Approved|investigationalDB00772MalathionSmall molecule
ApprovedDB00941HexafluroniumSmall molecule
ApprovedDB00944DemecariumSmall molecule
Approved|investigationalDB00989RivastigmineSmall molecule
ApprovedDB01010EdrophoniumSmall molecule
ApprovedDB01057EchothiophateSmall molecule
ApprovedDB01226MivacuriumSmall molecule
ExperimentalDB02811Diethylphosphono GroupSmall molecule
ExperimentalDB02845Methylphosphinic AcidSmall molecule
ExperimentalDB03568Butanoic AcidSmall molecule
ExperimentalDB036729-N-Phenylmethylamino-TacrineSmall molecule
ExperimentalDB038142-(N-Morpholino)-Ethanesulfonic AcidSmall molecule
ExperimentalDB03822Ethyl Dihydrogen PhosphateSmall molecule
ExperimentalDB04250ButyrylthiocholineSmall molecule
ExperimentalDB04251Monoisopropyl Ester Phosphonic Acid GroupSmall molecule
InvestigationalDB04892PhenserineSmall molecule
ExperimentalDB07681DODECANESULFONATE IONSmall molecule
ExperimentalDB079409-(3-IODOBENZYLAMINO)-1,2,3,4-TETRAHYDROACRIDINESmall molecule
ExperimentalDB08200(1R)-MENTHYL HEXYL PHOSPHONATE GROUPSmall molecule
ExperimentalDB08201(1S)-MENTHYL HEXYL PHOSPHONATE GROUPSmall molecule
ExperimentalDB08658ETHYL HYDROGEN DIETHYLAMIDOPHOSPHATESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BCHE go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of BCHE
Multiple alignments for P06276 in multiple species
LBSAA sequence# speciesSpecies
A227LFGESAGAASV2Homo sapiens, Bos taurus
A227IFGESAGAASV1Mus musculus
A356KDEGTAFLVYG3Homo sapiens, Mus musculus, Bos taurus
C428DYNIICPALEF2Mus musculus, Bos taurus
C428DYNFICPALEF1Homo sapiens
C94YANSCCQNIDQ1Homo sapiens
C94YANSCYQNIDQ1Mus musculus
C94YANSCYQNTDQ1Bos taurus
D157SLHVYDGKFLA2Homo sapiens, Bos taurus
D157SLPVYDGKFLA1Mus musculus
D98CCQNIDQSFPG1Homo sapiens
D98CYQNIDQAFPG1Mus musculus
D98CYQNTDQSFPG1Bos taurus
E225VTLFGESAGAA2Homo sapiens, Bos taurus
E225ITIFGESAGAA1Mus musculus
E471HGYEIEFVFGL3Homo sapiens, Mus musculus, Bos taurus
E510YGNPNETQNNS1Homo sapiens
E510YGHPNGTQGNS1Mus musculus
E510YGNPNGTQNNS1Bos taurus
F245GSHSLFTRAIL1Homo sapiens
F245QSYPLFTRAIL1Mus musculus
F245ESHPLFTRAIL1Bos taurus
F306LLNEAFVVPYG1Homo sapiens
F306LRNERFVLPSD1Mus musculus
F306LRHEVFVVPYG1Bos taurus
F357DEGTAFLVYGA3Homo sapiens, Mus musculus, Bos taurus
F426VGDYNFICPAL1Homo sapiens
F426IGDYNIICPAL1Mus musculus
F426VGDYNIICPAL1Bos taurus
F49MNLTVFGGTVT1Homo sapiens
F49LSMPVLGGTVT1Mus musculus
F49MHLPVLGGTVT1Bos taurus
G143LIWIYGGGFQT1Homo sapiens
G143MVWIYGGGFQT1Mus musculus
G143MIWIYGGSFQT1Bos taurus
G144IWIYGGGFQTG1Homo sapiens
G144VWIYGGGFQTG1Mus musculus
G144IWIYGGSFQTG1Bos taurus
G145WIYGGGFQTGT2Homo sapiens, Mus musculus
G145WIYGGSFQTGT1Bos taurus
G441KFSEWGNNAFF1Homo sapiens
G441KFAELENNAFF1Mus musculus
G441KFSDMGNNAFF1Bos taurus
G467MGVMHGYEIEF3Homo sapiens, Mus musculus, Bos taurus
H451FYYFEHRSSKL2Homo sapiens, Bos taurus
H451FYFFEHRSSKL1Mus musculus
H466WMGVMHGYEIE3Homo sapiens, Mus musculus, Bos taurus
I97SCCQNIDQSFP1Homo sapiens
I97SCYQNIDQAFP1Mus musculus
I97SCYQNTDQSFP1Bos taurus
K159HVYDGKFLARV2Homo sapiens, Bos taurus
K159PVYDGKFLARV1Mus musculus
K218FGGNPKSVTLF2Homo sapiens, Bos taurus
K218FGGNPKSITIF1Mus musculus
K276TLNLAKLTGCS1Homo sapiens
K276TLTLAKFTGCS1Mus musculus
K276TLTLAKFIGCS1Bos taurus
K351LVGVNKDEGTA3Homo sapiens, Mus musculus, Bos taurus
K497SRSIVKRWANF1Homo sapiens
K497SRSIMKTWANF1Mus musculus
K497SRSIMKRWANF1Bos taurus
K504WANFAKYGNPN2Homo sapiens, Bos taurus
K504WANFAKYGHPN1Mus musculus
L277LNLAKLTGCSR1Homo sapiens
L277LTLAKFTGCSK1Mus musculus
L277LTLAKFIGCSR1Bos taurus
L301DPQEILLNEAF1Homo sapiens
L301DPQEILRNERF1Mus musculus
L301DPQEILRHEVF1Bos taurus
L314PYGTPLSVNFG1Homo sapiens
L314PSDSILSINFG1Mus musculus
L314PYGTLLSVNFG1Bos taurus
L46VRGMNLTVFGG1Homo sapiens
L46VRGLSMPVLGG1Mus musculus
L46VRGMHLPVLGG1Bos taurus
M109FHGSEMWNPNT1Homo sapiens
M109FQGSEMWNPNT1Mus musculus
M109FLGSEMWNPNT1Bos taurus
M465EWMGVMHGYEI3Homo sapiens, Mus musculus, Bos taurus
N134APKPKNATVLI1Homo sapiens
N134VPKPKNATVMV1Mus musculus
N134TPKPKNATVMI1Bos taurus
N216AAFGGNPKSVT2Homo sapiens, Bos taurus
N216AAFGGNPKSIT1Mus musculus
N269LYEARNRTLNL1Homo sapiens
N269PEEARNRTLTL1Mus musculus
N269RYEARNRTLTL1Bos taurus
N273RNRTLNLAKLT1Homo sapiens
N273RNRTLTLAKFT1Mus musculus
N273RNRTLTLAKFI1Bos taurus
N284GCSRENETEII1Homo sapiens
N284GCSKENEMEMI1Mus musculus
N284GCSRENDTEII1Bos taurus
N369GFSKDNNSIIT2Homo sapiens, Bos taurus
N369GFSKDNDSLIT1Mus musculus
N370FSKDNNSIITR2Homo sapiens, Bos taurus
N370FSKDNDSLITR1Mus musculus
N442FSEWGNNAFFY1Homo sapiens
N442FAELENNAFFY1Mus musculus
N442FSDMGNNAFFY1Bos taurus
N443SEWGNNAFFYY1Homo sapiens
N443AELENNAFFYF1Mus musculus
N443SDMGNNAFFYY1Bos taurus
N514NETQNNSTSWP1Homo sapiens
N514NGTQGNSTMWP1Mus musculus
N514NGTQNNSTRWP1Bos taurus
N532KYLTLNTESTR1Homo sapiens
N532KYLTLNTEKSK1Mus musculus
N532KYFTLNTESPK1Bos taurus
N96NSCCQNIDQSF1Homo sapiens
N96NSCYQNIDQAF1Mus musculus
N96NSCYQNTDQSF1Bos taurus
P217AFGGNPKSVTL2Homo sapiens, Bos taurus
P217AFGGNPKSITI1Mus musculus
P297LRNKDPQEILL1Homo sapiens
P297LRSKDPQEILR1Mus musculus
P297LRNKDPQEILR1Bos taurus
P309EAFVVPYGTPL1Homo sapiens
P309ERFVLPSDSIL1Mus musculus
P309EVFVVPYGTLL1Bos taurus
P313VPYGTPLSVNF1Homo sapiens
P313LPSDSILSINF1Mus musculus
P313VPYGTLLSVNF1Bos taurus
P429YNIICPALEFT2Mus musculus, Bos taurus
P429YNFICPALEFT1Homo sapiens
Q298RNKDPQEILLN1Homo sapiens
Q298RSKDPQEILRN1Mus musculus
Q298RNKDPQEILRH1Bos taurus
Q344QFKKTQILVGV2Homo sapiens, Bos taurus
Q344KVKKAQILVGV1Mus musculus
R247HSLFTRAILQS1Homo sapiens
R247YPLFTRAILES1Mus musculus
R247HPLFTRAILQS1Bos taurus
R493EEILSRSIVKR1Homo sapiens
R493EEIFSRSIMKT1Mus musculus
R493EEIFSRSIMKR1Bos taurus
R543IMTKLRAQQCR1Homo sapiens
R543IYSKLRAPQCQ1Mus musculus
R543VNTKLRAQQCR1Bos taurus
S219GGNPKSVTLFG2Homo sapiens, Bos taurus
S219GGNPKSITIFG1Mus musculus
S226TLFGESAGAAS2Homo sapiens, Bos taurus
S226TIFGESAGAAS1Mus musculus
S243SPGSHSLFTRA1Homo sapiens
S243CPQSYPLFTRA1Mus musculus
S243SPESHPLFTRA1Bos taurus
S315YGTPLSVNFGP1Homo sapiens
S315SDSILSINFGP1Mus musculus
S315YGTLLSVNFGP1Bos taurus
S366GAPGFSKDNNS2Homo sapiens, Bos taurus
S366GAPGFSKDNDS1Mus musculus
S515ETQNNSTSWPV1Homo sapiens
S515GTQGNSTMWPV1Mus musculus
S515GTQNNSTRWPV1Bos taurus
T148GGGFQTGTSSL2Homo sapiens, Mus musculus
T148GGSFQTGTSSL1Bos taurus
T246SHSLFTRAILQ1Homo sapiens
T246SYPLFTRAILE1Mus musculus
T246SHPLFTRAILQ1Bos taurus
T286SRENETEIIKC1Homo sapiens
T286SKENEMEMIKC1Mus musculus
T286SRENDTEIIKC1Bos taurus
T516TQNNSTSWPVF1Homo sapiens
T516TQGNSTMWPVF1Mus musculus
T516TQNNSTRWPVF1Bos taurus
T533YLTLNTESTRI1Homo sapiens
T533YLTLNTEKSKI1Mus musculus
T533YFTLNTESPKV1Bos taurus
T536LNTESTRIMTK1Homo sapiens
T536LNTEKSKIYSK1Mus musculus
T536LNTESPKVNTK1Bos taurus
T551QCRFWTSFFPK1Homo sapiens
T551QCQFWRLFFPK1Mus musculus
T551QCRFWTLFFPK1Bos taurus
V308NEAFVVPYGTP1Homo sapiens
V308NERFVLPSDSI1Mus musculus
V308HEVFVVPYGTL1Bos taurus
V316GTPLSVNFGPT1Homo sapiens
V316DSILSINFGPT1Mus musculus
V316GTLLSVNFGPT1Bos taurus
W110HGSEMWNPNTD1Homo sapiens
W110QGSEMWNPNTN1Mus musculus
W110LGSEMWNPNTD1Bos taurus
W126LYLNVWIPAPK1Homo sapiens
W126LYLNVWIPVPK1Mus musculus
W126LYLNVWIPTPK1Bos taurus
W259SFNAPWAVTSL1Homo sapiens
W259SSNAPWAVKHP1Mus musculus
W259SSNAPWAVTSR1Bos taurus
W458SSKLPWPEWMG3Homo sapiens, Mus musculus, Bos taurus
Y265AVTSLYEARNR1Homo sapiens
Y265AVKHPEEARNR1Mus musculus
Y265AVTSRYEARNR1Bos taurus
Y360TAFLVYGAPGF3Homo sapiens, Mus musculus, Bos taurus
Y448NAFFYYFEHRS2Homo sapiens, Bos taurus
Y448NAFFYFFEHRS1Mus musculus
Y468GVMHGYEIEFV3Homo sapiens, Mus musculus, Bos taurus
Y89WNATKYANSCC1Homo sapiens
Y89HNATQYANSCY1Mus musculus
Y89WNATKYANSCY1Bos taurus


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