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 WRN
Gene summary
Basic gene Info.Gene symbolWRN
Gene nameWerner syndrome, RecQ helicase-like
CytomapUCSC genome browser: 8p12
Type of geneprotein-coding
DescriptionDNA helicase, RecQ-like type 3Werner syndrome ATP-dependent helicaseexonuclease WRNrecQ protein-like 2
Modification date20141222
dbXrefs MIM : 604611
Ensembl : ENSG00000165392
HPRD : 05212
Vega : OTTHUMG00000163894
ProteinUniProt: Q14191
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_WRN
BioGPS: 7486
PathwayNCI Pathway Interaction Database: WRN
Pathway Commons: WRN
ContextiHOP: WRN
ligand binding site mutation search in PubMed: WRN
UCL Cancer Institute: WRN
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000731DNA synthesis involved in DNA repair17563354
GO:0006200ATP catabolic process10373438
GO:0006259DNA metabolic process16622405
GO:0006284base-excision repair17611195
GO:0006974cellular response to DNA damage stimulus18203716
GO:0006979response to oxidative stress17611195
GO:0009267cellular response to starvation11420665
GO:0010225response to UV-C17563354
GO:0031297replication fork processing17115688
GO:0032066nucleolus to nucleoplasm transport11420665
GO:0032508DNA duplex unwinding11433031
GO:0051345positive regulation of hydrolase activity17611195
GO:0071480cellular response to gamma radiation21639834
GO:0090305nucleic acid phosphodiester bond hydrolysis10783163

Ligand binding site mutations for WRN
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for WRN
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
(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 WRN from PDB

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


Phenotype information for WRN
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0043119Werner Syndrome100AlteredExpression, Biomarker, GeneticVariation
umls:C0231341Aging, Premature44Biomarker, GeneticVariation
umls:C0031117Peripheral Nervous System Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
139166R993Hnot providedGermlineMedGen:CN169374

Pharmacological information for WRN
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 WRN go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3aafAK1036
NUCNucleic Acids3aafBK1036
NUCNucleic Acids3aafAK976 R993
NUCNucleic Acids3aafBK976 R993

Conservation information for LBS of WRN
Multiple alignments for Q14191 in multiple species
LBSAA sequence# speciesSpecies
D216LYAATDAYAGF1Homo sapiens
D216-----------1Caenorhabditis elegans
D216LYAATDAYAGL1Mus musculus
D82DVVGFDMEWPP2Homo sapiens, Mus musculus
D82DYDSFD-----1Caenorhabditis elegans
E84VGFDMEWPPLY1Homo sapiens
E84DSFD-------1Caenorhabditis elegans
E84VGFDMEWPPIY1Mus musculus
F1037SRYNKFMKIC-1Homo sapiens
F1037RLMQMKFGSCI1Caenorhabditis elegans
F1037PKENKYIKTC-1Mus musculus
F977ILGEKFGIGLP1Homo sapiens
F977MYNGKTGIGKP1Caenorhabditis elegans
F977ILQEKFGIGIP1Mus musculus
G978LGEKFGIGLPI1Homo sapiens
G978YNGKTGIGKPI1Caenorhabditis elegans
G978LQEKFGIGIPI1Mus musculus
K1036VSRYNKFMKIC1Homo sapiens
K1036VRLMQMKFGSC1Caenorhabditis elegans
K1036VPKENKYIKTC1Mus musculus
K1039YNKFMKIC-AL1Homo sapiens
K1039MQMKFGSCITL1Caenorhabditis elegans
K1039ENKYIKTC-SL1Mus musculus
K976DILGEKFGIGL1Homo sapiens
K976EMYNGKTGIGK1Caenorhabditis elegans
K976DILQEKFGIGI1Mus musculus
M1038RYNKFMKIC-A1Homo sapiens
M1038LMQMKFGSCIT1Caenorhabditis elegans
M1038KENKYIKTC-S1Mus musculus
M83VVGFDMEWPPL1Homo sapiens
M83YDSFD------1Caenorhabditis elegans
M83VVGFDMEWPPI1Mus musculus
N990FLRGSNSQRLA1Homo sapiens
N990FLRGSSKEDWR1Caenorhabditis elegans
N990FLRGSNSQRLP1Mus musculus
Q992RGSNSQRLA-D1Homo sapiens
Q992RGSSKEDWRIK1Caenorhabditis elegans
Q992RGSNSQRLP-D1Mus musculus
R196KDKSIRCSNWS2Homo sapiens, Mus musculus
R196-----------1Caenorhabditis elegans
R987PILFLRGSNSQ2Homo sapiens, Mus musculus
R987PIEFLRGSSKE1Caenorhabditis elegans
R993GSNSQRLA-DQ1Homo sapiens
R993GSSKEDWRIKT1Caenorhabditis elegans
R993GSNSQRLP-DK1Mus musculus
S989LFLRGSNSQRL2Homo sapiens, Mus musculus
S989EFLRGSSKEDW1Caenorhabditis elegans
S991LRGSNSQRLA-1Homo sapiens
S991LRGSSKEDWRI1Caenorhabditis elegans
S991LRGSNSQRLP-1Mus musculus
Y1034VEVSRYNKFMK1Homo sapiens
Y1034GEVRLMQMKFG1Caenorhabditis elegans
Y1034VEVPKENKYIK1Mus musculus

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