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 HLA-E
Gene summary
Basic gene Info.Gene symbolHLA-E
Gene namemajor histocompatibility complex, class I, E
SynonymsEA1.2|EA2.1|HLA-6.2|MHC|QA1
CytomapUCSC genome browser: 6p21.3
Type of geneprotein-coding
RefGenesNM_005516.5,
DescriptionHLA class I histocompatibility antigen, E alpha chainHLA class I histocompatibility antigen, alpha chain EMHC HLA-E alpha-1MHC HLA-E alpha-2.1MHC class I antigen Elymphocyte antigen
Modification date20141222
dbXrefs MIM : 143010
HGNC : HGNC
Ensembl : ENSG00000204592
HPRD : 00877
Vega : OTTHUMG00000031155
ProteinUniProt: P13747
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HLA-E
BioGPS: 3133
PathwayNCI Pathway Interaction Database: HLA-E
KEGG: HLA-E
REACTOME: HLA-E
Pathway Commons: HLA-E
ContextiHOP: HLA-E
ligand binding site mutation search in PubMed: HLA-E
UCL Cancer Institute: HLA-E
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0002476antigen processing and presentation of endogenous peptide antigen via MHC class Ib9754572
GO:0002717positive regulation of natural killer cell mediated immunity9754572
GO:0042270protection from natural killer cell mediated cytotoxicity9754572


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Ligand binding site mutations for HLA-E

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
T184D183NBLCA1
Y80W81COV1
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 HLA-E
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
T184D183N-1.3309917
Y80W81C-0.80177869
(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 HLA-E from PDB

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Differential gene expression and gene-gene network for HLA-E
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 HLA-E and the right PPI network was created from samples without mutations in the LBS of HLA-E. 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 HLA-E
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0030491Parapsoriasis1Biomarker

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

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Pharmacological information for HLA-E
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.
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 HLA-E go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of HLA-E
Multiple alignments for P13747 in multiple species
LBSAA sequence# speciesSpecies
A88RETRSARDTAQ2Homo sapiens, Pan troglodytes
A88RETWKARDMGR1Mus musculus
D170EQKSNDASEAE1Homo sapiens
D170KHKSEAVDEAH1Mus musculus
D170ERKSNDACEAE1Pan troglodytes
D90TRSARDTAQIF2Homo sapiens, Pan troglodytes
D90TWKARDMGRNF1Mus musculus
E173SNDASEAEHQR1Homo sapiens
E173SEAVDEAHQQR1Mus musculus
E173SNDACEAEHQR1Pan troglodytes
E84EYWDRETRSAR2Homo sapiens, Pan troglodytes
E84EYWERETWKAR1Mus musculus
F137RGYEQFAYDGK2Homo sapiens, Pan troglodytes
F137RGYCQEAYDGQ1Mus musculus
F95DTAQIFRVNLR2Homo sapiens, Pan troglodytes
F95DMGRNFRVNLR1Mus musculus
H120TLQWMHGCELG1Homo sapiens
H120TLQWMYGCDVG1Mus musculus
H120TLQWMHGCDLG1Pan troglodytes
H176ASEAEHQRAYL1Homo sapiens
H176VDEAHQQRAYL1Mus musculus
H176ACEAEHQRAYL1Pan troglodytes
H30SLKYFHTSVSR2Homo sapiens, Pan troglodytes
H30SLRYFTTAVSR1Mus musculus
I94RDTAQIFRVNL2Homo sapiens, Pan troglodytes
I94RDMGRNFRVNL1Mus musculus
K167QISEQKSNDAS1Homo sapiens
K167QISKHKSEAVD1Mus musculus
K167QISERKSNDAC1Pan troglodytes
L102VNLRTLRGYYN2Homo sapiens, Pan troglodytes
L102VNLRTLLGYYN1Mus musculus
L116AGSHTLQWMHG2Homo sapiens, Pan troglodytes
L116DESHTLQWMYG1Mus musculus
L145DGKDYLTLNED2Homo sapiens, Pan troglodytes
L145DGQDYISLNED1Mus musculus
M66AASPRMVPRAP2Homo sapiens, Pan troglodytes
M66AENPRMEPRAR1Mus musculus
N98QIFRVNLRTLR2Homo sapiens, Pan troglodytes
N98RNFRVNLRTLL1Mus musculus
Q177SEAEHQRAYLE1Homo sapiens
Q177DEAHQQRAYLQ1Mus musculus
Q177CEAEHQRAYLE1Pan troglodytes
R83SEYWDRETRSA2Homo sapiens, Pan troglodytes
R83PEYWERETWKA1Mus musculus
S164TAAQISEQKSN1Homo sapiens
S164IASQISKHKSE1Mus musculus
S164TAAQISERKSN1Pan troglodytes
S168ISEQKSNDASE1Homo sapiens
S168ISKHKSEAVDE1Mus musculus
S168ISERKSNDACE1Pan troglodytes
S87DRETRSARDTA2Homo sapiens, Pan troglodytes
S87ERETWKARDMG1Mus musculus
T101RVNLRTLRGYY2Homo sapiens, Pan troglodytes
T101RVNLRTLLGYY1Mus musculus
T184AYLEDTCVEWL2Homo sapiens, Pan troglodytes
T184AYLQGPCVEWL1Mus musculus
T91RSARDTAQIFR2Homo sapiens, Pan troglodytes
T91WKARDMGRNFR1Mus musculus
V97AQIFRVNLRTL2Homo sapiens, Pan troglodytes
V97GRNFRVNLRTL1Mus musculus
W118SHTLQWMHGCE1Homo sapiens
W118SHTLQWMYGCD1Mus musculus
W118SHTLQWMHGCD1Pan troglodytes
W154EDLRSWTAVDT2Homo sapiens, Pan troglodytes
W154EDLRSWTANDI1Mus musculus
W188DTCVEWLHKYL2Homo sapiens, Pan troglodytes
W188GPCVEWLHRYL1Mus musculus
Y105RTLRGYYNQSE2Homo sapiens, Pan troglodytes
Y105RTLLGYYNQSN1Mus musculus
Y144YDGKDYLTLNE2Homo sapiens, Pan troglodytes
Y144YDGQDYISLNE1Mus musculus
Y180EHQRAYLEDTC2Homo sapiens, Pan troglodytes
Y180HQQRAYLQGPC1Mus musculus
Y192EWLHKYLEKGK2Homo sapiens, Pan troglodytes
Y192EWLHRYLRLGN1Mus musculus
Y28SHSLKYFHTSV2Homo sapiens, Pan troglodytes
Y28PHSLRYFTTAV1Mus musculus
Y80QEGSEYWDRET2Homo sapiens, Pan troglodytes
Y80QEGPEYWERET1Mus musculus


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