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mutLBSgeneDB |
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| Gene summary for ESD |
 Gene summary |
| Basic gene Info. | Gene symbol | ESD |
| Gene name | esterase D | |
| Synonyms | FGH | |
| Cytomap | UCSC genome browser: 13q14.1-q14.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001984.1, | |
| Description | S-formylglutathione hydrolaseesterase 10esterase D/formylglutathione hydrolasemethylumbelliferyl-acetate deacetylase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 133280 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000139684 | ||
| HPRD : 00588 | ||
| Vega : OTTHUMG00000016878 | ||
| Protein | UniProt: P10768 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ESD | |
| BioGPS: 2098 | ||
| Pathway | NCI Pathway Interaction Database: ESD | |
| KEGG: ESD | ||
| REACTOME: ESD | ||
| Pathway Commons: ESD | ||
| Context | iHOP: ESD | |
| ligand binding site mutation search in PubMed: ESD | ||
| UCL Cancer Institute: ESD | ||
| 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 |
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| Ligand binding site mutations for ESD |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H260 | S261N | COAD | 1 | A204 | A204S | HNSC | 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 ESD |
| 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 | H260 | S261N | -0.9644731 | A204 | A204S | -0.50300014 |
| (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 ESD from PDB |
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| Differential gene expression and gene-gene network for ESD |
| 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 ESD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003130 | Anoxia | 1 | Biomarker |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ESD |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00143 | Glutathione | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ESD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 3fcx | A | A204 | CA | CALCIUM(2+) | 3fcx | A | H260 |
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| Conservation information for LBS of ESD |
| Multiple alignments for P10768 in multiple species |
| LBS | AA sequence | # species | Species | A204 | WKAYDATHLVK | 1 | Homo sapiens | A204 | WEAYDPCLLIK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A204 | WEEYDATCLIS | 1 | Arabidopsis thaliana | A204 | WKAYDATCLVK | 1 | Rattus norvegicus | A204 | WEAYDATYLVK | 1 | Bos taurus | D203 | KWKAYDATHLV | 1 | Homo sapiens | D203 | QWEAYDPCLLI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D203 | AWEEYDATCLI | 1 | Arabidopsis thaliana | D203 | KWKAYDATCLV | 1 | Rattus norvegicus | D203 | KWEAYDATYLV | 1 | Bos taurus | D225 | IDQGKDDQFLL | 1 | Homo sapiens | D225 | IHVGDSDPFLE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D225 | IDQGENDQFYP | 1 | Arabidopsis thaliana | D225 | IDQGKDDEFLS | 1 | Rattus norvegicus | D225 | IDQGKEDEFLS | 1 | Bos taurus | D226 | DQGKDDQFLLD | 1 | Homo sapiens | D226 | HVGDSDPFLEE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D226 | DQGENDQFYPD | 1 | Arabidopsis thaliana | D226 | DQGKDDEFLSN | 1 | Rattus norvegicus | D226 | DQGKEDEFLSD | 1 | Bos taurus | D259 | E--GYDHSYYF | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | D259 | KVHGFDHSYYF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D259 | P--GYDHSYYF | 1 | Arabidopsis thaliana | G104 | FGTGAGFYVDA | 2 | Homo sapiens, Bos taurus | G104 | FGQGAGFYLNA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G104 | FGVGAGFYLNA | 1 | Arabidopsis thaliana | G104 | FGTGAGFFVNA | 1 | Rattus norvegicus | G75 | AASEHGLVVIA | 2 | Rattus norvegicus, Bos taurus | G75 | SASEHGLVVIA | 1 | Homo sapiens | G75 | QADKYGFAIVF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G75 | AASTHGIALVA | 1 | Arabidopsis thaliana | H153 | HSMGGHGALIC | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | H153 | HSMGGYGAICG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H153 | HSMGGHGALTI | 1 | Arabidopsis thaliana | H260 | --GYDHSYYFI | 4 | Homo sapiens, Arabidopsis thaliana, Rattus norvegicus, Bos taurus | H260 | VHGFDHSYYFV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H74 | QAASEHGLVVI | 2 | Rattus norvegicus, Bos taurus | H74 | QSASEHGLVVI | 1 | Homo sapiens | H74 | FQADKYGFAIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H74 | RAASTHGIALV | 1 | Arabidopsis thaliana | I157 | GHGALICALK- | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | I157 | GYGAICGYLKG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I157 | GHGALTIYLR- | 1 | Arabidopsis thaliana | I175 | SAFAPICNPVL | 2 | Homo sapiens, Rattus norvegicus | I175 | SAFAPIVNPSN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I175 | SAFAPITNPIN | 1 | Arabidopsis thaliana | I175 | SAFAPLCNPVL | 1 | Bos taurus | M120 | KTNYRMYSYVT | 2 | Homo sapiens, Bos taurus | M120 | AQHYQMYDYIH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M120 | K-NWRMYDYVV | 1 | Arabidopsis thaliana | M120 | NTNYRMYSYVT | 1 | Rattus norvegicus | N9 | KQISSNKCFGG | 2 | Homo sapiens, Rattus norvegicus | N9 | KVVKEFSVCGG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N9 | SEIGSTKMFDG | 1 | Arabidopsis thaliana | N9 | KQVSSSKCFGG | 1 | Bos taurus | P178 | APICNPVLCPW | 2 | Homo sapiens, Rattus norvegicus | P178 | APIVNPSNVPW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P178 | APITNPINCAW | 1 | Arabidopsis thaliana | P178 | APLCNPVLCRW | 1 | Bos taurus | P46 | -TGKCPALYWL | 1 | Homo sapiens | P46 | -NKRIPTVFYL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P46 | SSHKSPVLYWL | 1 | Arabidopsis thaliana | P46 | -SAKCPALYWL | 1 | Rattus norvegicus | P46 | -TGKCPVLYWL | 1 | Bos taurus | Q227 | QGKDDQFLLDG | 1 | Homo sapiens | Q227 | VGDSDPFLEE- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q227 | QGENDQFYPD- | 1 | Arabidopsis thaliana | Q227 | QGKDDEFLSNG | 1 | Rattus norvegicus | Q227 | QGKEDEFLSDG | 1 | Bos taurus | R119 | WKTNYRMYSYV | 2 | Homo sapiens, Bos taurus | R119 | YAQHYQMYDYI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R119 | WK-NWRMYDYV | 1 | Arabidopsis thaliana | R119 | WNTNYRMYSYV | 1 | Rattus norvegicus | V107 | GAGFYVDATED | 2 | Homo sapiens, Bos taurus | V107 | GAGFYLNATQE | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana | V107 | GAGFFVNATED | 1 | Rattus norvegicus | Y118 | PWKTNYRMYSY | 1 | Homo sapiens | Y118 | PYAQHYQMYDY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y118 | KWK-NWRMYDY | 1 | Arabidopsis thaliana | Y118 | PWNTNYRMYSY | 1 | Rattus norvegicus | Y118 | LWKTNYRMYSY | 1 | Bos taurus |
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