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mutLBSgeneDB |
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| Gene summary for ESRRA |
 Gene summary |
| Basic gene Info. | Gene symbol | ESRRA |
| Gene name | estrogen-related receptor alpha | |
| Synonyms | ERR1|ERRa|ERRalpha|ESRL1|NR3B1 | |
| Cytomap | UCSC genome browser: 11q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001282450.1, NM_001282451.1,NM_004451.4, | |
| Description | ERR-alphaestrogen receptor-like 1estrogen-related nuclear receptor alphanuclear receptor subfamily 3 group B member 1steroid hormone receptor ERR1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601998 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000173153 | ||
| HPRD : 07210 | ||
| Vega : OTTHUMG00000150641 | ||
| Protein | UniProt: P11474 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ESRRA | |
| BioGPS: 2101 | ||
| Pathway | NCI Pathway Interaction Database: ESRRA | |
| KEGG: ESRRA | ||
| REACTOME: ESRRA | ||
| Pathway Commons: ESRRA | ||
| Context | iHOP: ESRRA | |
| ligand binding site mutation search in PubMed: ESRRA | ||
| UCL Cancer Institute: ESRRA | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 ESRRA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L228 | T227A | BLCA | 1 | G301 | G301D | COAD | 1 | A420 | E419K | COAD | 1 | M258 | S259P | COAD | 1 | D21 | D21N | HNSC | 1 | D21 | P23L | SKCM | 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 ESRRA |
| 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 | M258 | S259P | 0.23277883 | L228 | T227A | -1.2933983 | D21 | P23L | -0.9514101 | G301 | G301D | -0.64300036 | D21 | D21N | -0.60786292 | A420 | E419K | -0.5919843 |
| (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 ESRRA from PDB |
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| Differential gene expression and gene-gene network for ESRRA |
| 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 ESRRA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1458155 | Breast Neoplasms | 5 | Biomarker |
| umls:C0025517 | Metabolic Diseases | 3 | Biomarker, Therapeutic |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ESRRA |
| 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 |
| Withdrawn | DB00197 | Troglitazone | Small molecule |  |
| Experimental | DB06833 | 1-CYCLOHEXYL-N-{[1-(4-METHYLPHENYL)-1H-INDOL-3-YL]METHYL}METHANAMINE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ESRRA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ARG,PRO,CYS,SER,GLU,LEU,LEU,LYS,TYR,LEU,THR,THR,ASN) | 3d24 | A | M258 | III | Peptide ligand (ARG,PRO,CYS,SER,GLU,LEU,LEU,LYS,TYR,LEU,THR,THR,ASN,ASP) | 3d24 | C | M258 A420 |
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| Conservation information for LBS of ESRRA |
| Multiple alignments for P11474 in multiple species |
| LBS | AA sequence | # species | Species |
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