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 CYP2E1
Gene summary
Basic gene Info.Gene symbolCYP2E1
Gene namecytochrome P450, family 2, subfamily E, polypeptide 1
SynonymsCPE1|CYP2E|P450-J|P450C2E
CytomapUCSC genome browser: 10q26.3
Type of geneprotein-coding
RefGenesNM_000773.3,
Description4-nitrophenol 2-hydroxylaseCYPIIE1cytochrome P450 2E1cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1cytochrome P450-Jflavoprotein-linked monooxygenasemicrosomal monooxygenasexenobiotic monooxygenase
Modification date20141222
dbXrefs MIM : 124040
HGNC : HGNC
Ensembl : ENSG00000130649
HPRD : 11813
Vega : OTTHUMG00000019322
ProteinUniProt: P05181
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CYP2E1
BioGPS: 1571
PathwayNCI Pathway Interaction Database: CYP2E1
KEGG: CYP2E1
REACTOME: CYP2E1
Pathway Commons: CYP2E1
ContextiHOP: CYP2E1
ligand binding site mutation search in PubMed: CYP2E1
UCL Cancer Institute: CYP2E1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0016098monoterpenoid metabolic process16401082
GO:0017144drug metabolic process19219744
GO:0046483heterocycle metabolic process19651758
GO:0055114oxidation-reduction process16401082


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Ligand binding site mutations for CYP2E1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R126R126WCOAD1
L368L368MKIRC1
R435R435LLUAD1
V239A240SLUAD1
F478C480FLUAD1
G439G439VLUAD1
A443R444CSKCM1
G300G300RSKCM1
I114G113ESKCM1
R126,W122D124NSKCM1
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 CYP2E1
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
R126R126W-1.342503
A443R444C-1.1097511
L368L368M-1.0893981
V239A240S-0.91550384
R126D124N-0.70493681
W122D124N-0.70493681
F478C480F-0.58168011
I114G113E-0.43253721
G439G439V-0.348647
R435R435L-0.34725872
G300G300R-0.33082571
(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 CYP2E1 from PDB

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Differential gene expression and gene-gene network for CYP2E1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

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 CYP2E1 and the right PPI network was created from samples without mutations in the LBS of CYP2E1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CYP2E1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001973Alcoholism31Biomarker, GeneticVariation
umls:C2239176Carcinoma, Hepatocellular24AlteredExpression, Biomarker, GeneticVariation
umls:C0023903Liver Neoplasms13Biomarker, GeneticVariation
umls:C0023891Liver Cirrhosis, Alcoholic11Biomarker, GeneticVariation
umls:C0860207Drug-Induced Liver Injury10Biomarker, GeneticVariation
umls:C0028754Obesity9Biomarker, GeneticVariation
umls:C0024305Lymphoma, Non-Hodgkin7Biomarker, GeneticVariation
umls:C0024121Lung Neoplasms7Biomarker, GeneticVariation
umls:C0001418Adenocarcinoma7Biomarker, GeneticVariation
umls:C0015695Fatty Liver6Biomarker, GeneticVariation
umls:C0030567Parkinson Disease6Biomarker, GeneticVariation
umls:C0007131Carcinoma, Non-Small-Cell Lung5Biomarker, GeneticVariation
umls:C0027540Necrosis2Biomarker
umls:C0018800Cardiomegaly1Biomarker
umls:C0011609Drug Eruptions1Biomarker
umls:C3658338Drug-Related Side Effects and Adverse Reactions1Biomarker
umls:C0023904Liver Neoplasms, Experimental1Biomarker
umls:C1449861Micronuclei, Chromosome-Defective1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for CYP2E1
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CYP2E1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
LZ11H-INDAZOLE3e6iAF478
LZ11H-INDAZOLE3e6iBF478
OID10-IMIDAZOLYL-DECANOIC ACID3gphBF478
OIO8-(1H-IMIDAZOL-1-YL)OCTANOIC ACID3kohBF478
HEMHEME B3kohAI114 W122 R126 G300 L368 R435 A443
HEMHEME B3e4eAI114 W122 R126 G300 L368 R435 G439
HEMHEME B3e4eBI114 W122 R126 G300 L368 R435 G439
HEMHEME B3kohBI114 W122 R126 G300 L368 R435 G439
HEMHEME B3e6iAI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3e6iBI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3gphAI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3gphBI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3lc4AI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3lc4BI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3t3zAI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3t3zBI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3t3zCI114 W122 R126 G300 L368 R435 G439 A443
HEMHEME B3t3zDI114 W122 R126 G300 L368 R435 G439 A443
9PL(+)-PILOCARPINE3t3zAL368 F478
9PL(+)-PILOCARPINE3t3zBL368 F478
9PL(+)-PILOCARPINE3t3zCL368 F478
9PL(+)-PILOCARPINE3t3zDL368 F478
OID10-IMIDAZOLYL-DECANOIC ACID3gphAV239 F478
LC412-(1H-IMIDAZOL-1-YL)DODECANOIC ACID3lc4AV239 F478
LC412-(1H-IMIDAZOL-1-YL)DODECANOIC ACID3lc4BV239 L368 F478


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Conservation information for LBS of CYP2E1
Multiple alignments for P05181 in multiple species
LBSAA sequence# speciesSpecies
A299ADLFFAGTETT5Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus, Canis lupus familiaris
A299ADLLFAGTETT1Bos taurus
A438GKRVCVGEGLA4Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
A438GKRVCAGEGLA2Homo sapiens, Macaca mulatta
A443VGEGLARMELF4Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
A443AGEGLARMELF2Homo sapiens, Macaca mulatta
C437AGKRVCVGEGL4Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
C437TGKRVCAGEGL1Homo sapiens
C437AGKRVCAGEGL1Macaca mulatta
F106GDIPVFQEYKN2Mus musculus, Rattus norvegicus
F106GDLPAFHAHRD1Homo sapiens
F106GDIPAFHAHRD1Macaca mulatta
F106GEVFAFQSHKD1Canis lupus familiaris
F106GENPGFQMHKN1Bos taurus
F116DRGIIFNNGPT2Homo sapiens, Macaca mulatta
F116NKGIIFNNGPT2Mus musculus, Rattus norvegicus
F116DRGITFNNGPG1Canis lupus familiaris
F116NNGIIFNNGST1Bos taurus
F203RLMSLFNENFY2Rattus norvegicus, Bos taurus
F203RLMYLFNENFH1Homo sapiens
F203RLMYLFNENFQ1Macaca mulatta
F203ELMSLFNENFY1Mus musculus
F203RIQKLFNENFH1Canis lupus familiaris
F207LFNENFHLLST2Homo sapiens, Canis lupus familiaris
F207LFNENFYLLST2Mus musculus, Rattus norvegicus
F207LFNENFQLLST1Macaca mulatta
F207LFNENFYLLSS1Bos taurus
F298VADLFFAGTET3Homo sapiens, Macaca mulatta, Canis lupus familiaris
F298LADLFFAGTET2Mus musculus, Rattus norvegicus
F298VADLLFAGTET1Bos taurus
F430DYFKAFSAGKR3Mus musculus, Rattus norvegicus, Canis lupus familiaris
F430DYFKPFSTGKR1Homo sapiens
F430DYFKPFSAGKR1Macaca mulatta
F430DHFKAFSAGKR1Bos taurus
F478PIHIGFGCIPP1Homo sapiens
F478PVNIGFGCIPP1Macaca mulatta
F478PVTIGFGSIPR1Mus musculus
F478PVTVGFGSIPP1Rattus norvegicus
F478PCTIGFAKIPP1Canis lupus familiaris
F478PIAIGFGKIPP1Bos taurus
G300DLFFAGTETTS5Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus, Canis lupus familiaris
G300DLLFAGTETTS1Bos taurus
G439KRVCVGEGLAR4Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
G439KRVCAGEGLAR2Homo sapiens, Macaca mulatta
H109PAFHAHRDRGI2Homo sapiens, Macaca mulatta
H109PVFQEYKNKGI2Mus musculus, Rattus norvegicus
H109FAFQSHKDRGI1Canis lupus familiaris
H109PGFQMHKNNGI1Bos taurus
H370PSNLPHEATRD4Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus
H370PSNLPHVANQD1Canis lupus familiaris
H370PSNLLHEATQD1Bos taurus
I114HRDRGIIFNNG2Homo sapiens, Macaca mulatta
I114YKNKGIIFNNG2Mus musculus, Rattus norvegicus
I114HKDRGITFNNG1Canis lupus familiaris
I114HKNNGIIFNNG1Bos taurus
I115RDRGIIFNNGP2Homo sapiens, Macaca mulatta
I115KNKGIIFNNGP2Mus musculus, Rattus norvegicus
I115KDRGITFNNGP1Canis lupus familiaris
I115KNNGIIFNNGS1Bos taurus
I180APCNVIADILF4Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus
I180APFNVIADILF1Canis lupus familiaris
I180APYNVISDILF1Bos taurus
K243NVAEVKEYVSE1Homo sapiens
K243NVAEIKEYVSE1Macaca mulatta
K243NVSEIRQYTLG1Mus musculus
K243NVSEIKQYTLE1Rattus norvegicus
K243NVAELKDYSLE1Canis lupus familiaris
K243NVSEVKSYALE1Bos taurus
L210ENFYLLSTPWI2Mus musculus, Rattus norvegicus
L210ENFHLLSTPWL1Homo sapiens
L210ENFQLLSTPWL1Macaca mulatta
L210ENFHLLSTGWL1Canis lupus familiaris
L210ENFYLLSSPWI1Bos taurus
L296VTVADLFFAGT3Homo sapiens, Macaca mulatta, Canis lupus familiaris
L296VTLADLFFAGT2Mus musculus, Rattus norvegicus
L296VTVADLLFAGT1Bos taurus
L368LVPSNLPHEAT4Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus
L368LLPSNLPHVAN1Canis lupus familiaris
L368LLPSNLLHEAT1Bos taurus
L393VVVPTLDSVLY1Homo sapiens
L393VIVPTLDSVLY1Macaca mulatta
L393VVIPTLDSLLF1Mus musculus
L393VVIPTLDSLLY1Rattus norvegicus
L393VVIPTLDSVLF1Canis lupus familiaris
L393VVIPTLDSVLH1Bos taurus
L442CVGEGLARMEL4Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
L442CAGEGLARMEL2Homo sapiens, Macaca mulatta
N206SLFNENFYLLS3Mus musculus, Rattus norvegicus, Bos taurus
N206YLFNENFHLLS1Homo sapiens
N206YLFNENFQLLS1Macaca mulatta
N206KLFNENFHLLS1Canis lupus familiaris
N367TLVPSNLPHEA2Homo sapiens, Macaca mulatta
N367NLVPSNLPHEA2Mus musculus, Rattus norvegicus
N367DLLPSNLPHVA1Canis lupus familiaris
N367DLLPSNLLHEA1Bos taurus
P429SDYFKAFSAGK3Mus musculus, Rattus norvegicus, Canis lupus familiaris
P429SDYFKPFSTGK1Homo sapiens
P429SDYFKPFSAGK1Macaca mulatta
P429SDHFKAFSAGK1Bos taurus
R100NEFSGRGDIPV2Mus musculus, Rattus norvegicus
R100DEFSGRGDLPA1Homo sapiens
R100DEFSGRGDIPA1Macaca mulatta
R100NDLSGRGEVFA1Canis lupus familiaris
R100NEFSGRGENPG1Bos taurus
R126TWKDIRRFSLT2Homo sapiens, Macaca mulatta
R126TWKDVRRFSLS2Mus musculus, Rattus norvegicus
R126GWKDTRRLSLS1Canis lupus familiaris
R126TWRDTRRFSLT1Bos taurus
R435FSAGKRVCVGE4Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
R435FSTGKRVCAGE1Homo sapiens
R435FSAGKRVCAGE1Macaca mulatta
S431YFKAFSAGKRV3Mus musculus, Rattus norvegicus, Canis lupus familiaris
S431YFKPFSTGKRV1Homo sapiens
S431YFKPFSAGKRV1Macaca mulatta
S431HFKAFSAGKRV1Bos taurus
T303FAGTETTSTTL6Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
T304AGTETTSTTLR6Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
T307ETTSTTLRYGL6Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus
V239KVIKNVAEVKE1Homo sapiens
V239KVMKNVAEIKE1Macaca mulatta
V239KVMKNVSEIRQ1Mus musculus
V239KIMKNVSEIKQ1Rattus norvegicus
V239KVLRNVAELKD1Canis lupus familiaris
V239KLLKNVSEVKS1Bos taurus
V242KNVAEVKEYVS1Homo sapiens
V242KNVAEIKEYVS1Macaca mulatta
V242KNVSEIRQYTL1Mus musculus
V242KNVSEIKQYTL1Rattus norvegicus
V242RNVAELKDYSL1Canis lupus familiaris
V242KNVSEVKSYAL1Bos taurus
V364RFITLVPSNLP2Homo sapiens, Macaca mulatta
V364RFINLVPSNLP2Mus musculus, Rattus norvegicus
V364RFIDLLPSNLP1Canis lupus familiaris
V364RFIDLLPSNLL1Bos taurus
W122NNGPTWKDIRR2Homo sapiens, Macaca mulatta
W122NNGPTWKDVRR2Mus musculus, Rattus norvegicus
W122NNGPGWKDTRR1Canis lupus familiaris
W122NNGSTWRDTRR1Bos taurus


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