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mutLBSgeneDB |
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| Gene summary for WRN |
 Gene summary |
| Basic gene Info. | Gene symbol | WRN |
| Gene name | Werner syndrome, RecQ helicase-like | |
| Synonyms | RECQ3|RECQL2|RECQL3 | |
| Cytomap | UCSC genome browser: 8p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000553.4, | |
| Description | DNA helicase, RecQ-like type 3Werner syndrome ATP-dependent helicaseexonuclease WRNrecQ protein-like 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 604611 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000165392 | ||
| HPRD : 05212 | ||
| Vega : OTTHUMG00000163894 | ||
| Protein | UniProt: Q14191 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_WRN | |
| BioGPS: 7486 | ||
| Pathway | NCI Pathway Interaction Database: WRN | |
| KEGG: WRN | ||
| REACTOME: WRN | ||
| Pathway Commons: WRN | ||
| Context | iHOP: WRN | |
| ligand binding site mutation search in PubMed: WRN | ||
| UCL Cancer Institute: WRN | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000731 | DNA synthesis involved in DNA repair | 17563354 | GO:0006200 | ATP catabolic process | 10373438 | GO:0006259 | DNA metabolic process | 16622405 | GO:0006284 | base-excision repair | 17611195 | GO:0006974 | cellular response to DNA damage stimulus | 18203716 | GO:0006979 | response to oxidative stress | 17611195 | GO:0009267 | cellular response to starvation | 11420665 | GO:0010225 | response to UV-C | 17563354 | GO:0031297 | replication fork processing | 17115688 | GO:0032066 | nucleolus to nucleoplasm transport | 11420665 | GO:0032508 | DNA duplex unwinding | 11433031 | GO:0051345 | positive regulation of hydrolase activity | 17611195 | GO:0071480 | cellular response to gamma radiation | 21639834 | GO:0090305 | nucleic acid phosphodiester bond hydrolysis | 10783163 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K976 | E975K | COAD | 1 | K1036 | K1036R | LUSC | 1 | E84 | W85L | LUSC | 1 | R993 | R993H | UCEC | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | R993 | R993H | -1.7020177 | K976 | E975K | -1.4187888 | E84 | W85L | -0.6378628 | K1036 | K1036R | -0.29743367 |
| (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 |
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| 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) |
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| Phenotype information for WRN |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0043119 | Werner Syndrome | 100 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0231341 | Aging, Premature | 44 | Biomarker, GeneticVariation |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 139166 | R993H | not provided | Germline | MedGen:CN169374 |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of WRN go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 2fbv | A | E84 | MG | MAGNESIUM(2+) | 2fbx | A | E84 | MN | MANGANESE(2+) | 2fc0 | A | E84 | NUC | Nucleic Acids | 3aaf | A | K1036 | NUC | Nucleic Acids | 3aaf | B | K1036 | NUC | Nucleic Acids | 3aaf | A | K976 R993 | NUC | Nucleic Acids | 3aaf | B | K976 R993 |
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| Conservation information for LBS of WRN |
| Multiple alignments for Q14191 in multiple species |
| LBS | AA sequence | # species | Species | D216 | LYAATDAYAGF | 1 | Homo sapiens | D216 | ----------- | 1 | Caenorhabditis elegans | D216 | LYAATDAYAGL | 1 | Mus musculus | D82 | DVVGFDMEWPP | 2 | Homo sapiens, Mus musculus | D82 | DYDSFD----- | 1 | Caenorhabditis elegans | E84 | VGFDMEWPPLY | 1 | Homo sapiens | E84 | DSFD------- | 1 | Caenorhabditis elegans | E84 | VGFDMEWPPIY | 1 | Mus musculus | F1037 | SRYNKFMKIC- | 1 | Homo sapiens | F1037 | RLMQMKFGSCI | 1 | Caenorhabditis elegans | F1037 | PKENKYIKTC- | 1 | Mus musculus | F977 | ILGEKFGIGLP | 1 | Homo sapiens | F977 | MYNGKTGIGKP | 1 | Caenorhabditis elegans | F977 | ILQEKFGIGIP | 1 | Mus musculus | G978 | LGEKFGIGLPI | 1 | Homo sapiens | G978 | YNGKTGIGKPI | 1 | Caenorhabditis elegans | G978 | LQEKFGIGIPI | 1 | Mus musculus | K1036 | VSRYNKFMKIC | 1 | Homo sapiens | K1036 | VRLMQMKFGSC | 1 | Caenorhabditis elegans | K1036 | VPKENKYIKTC | 1 | Mus musculus | K1039 | YNKFMKIC-AL | 1 | Homo sapiens | K1039 | MQMKFGSCITL | 1 | Caenorhabditis elegans | K1039 | ENKYIKTC-SL | 1 | Mus musculus | K976 | DILGEKFGIGL | 1 | Homo sapiens | K976 | EMYNGKTGIGK | 1 | Caenorhabditis elegans | K976 | DILQEKFGIGI | 1 | Mus musculus | M1038 | RYNKFMKIC-A | 1 | Homo sapiens | M1038 | LMQMKFGSCIT | 1 | Caenorhabditis elegans | M1038 | KENKYIKTC-S | 1 | Mus musculus | M83 | VVGFDMEWPPL | 1 | Homo sapiens | M83 | YDSFD------ | 1 | Caenorhabditis elegans | M83 | VVGFDMEWPPI | 1 | Mus musculus | N990 | FLRGSNSQRLA | 1 | Homo sapiens | N990 | FLRGSSKEDWR | 1 | Caenorhabditis elegans | N990 | FLRGSNSQRLP | 1 | Mus musculus | Q992 | RGSNSQRLA-D | 1 | Homo sapiens | Q992 | RGSSKEDWRIK | 1 | Caenorhabditis elegans | Q992 | RGSNSQRLP-D | 1 | Mus musculus | R196 | KDKSIRCSNWS | 2 | Homo sapiens, Mus musculus | R196 | ----------- | 1 | Caenorhabditis elegans | R987 | PILFLRGSNSQ | 2 | Homo sapiens, Mus musculus | R987 | PIEFLRGSSKE | 1 | Caenorhabditis elegans | R993 | GSNSQRLA-DQ | 1 | Homo sapiens | R993 | GSSKEDWRIKT | 1 | Caenorhabditis elegans | R993 | GSNSQRLP-DK | 1 | Mus musculus | S989 | LFLRGSNSQRL | 2 | Homo sapiens, Mus musculus | S989 | EFLRGSSKEDW | 1 | Caenorhabditis elegans | S991 | LRGSNSQRLA- | 1 | Homo sapiens | S991 | LRGSSKEDWRI | 1 | Caenorhabditis elegans | S991 | LRGSNSQRLP- | 1 | Mus musculus | Y1034 | VEVSRYNKFMK | 1 | Homo sapiens | Y1034 | GEVRLMQMKFG | 1 | Caenorhabditis elegans | Y1034 | VEVPKENKYIK | 1 | Mus musculus |
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