Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ESR1 (estrogen receptor 1)

Identity

Other namesER
ESR
ESRA
ESTRR
Era
NR3A1
HGNC (Hugo) ESR1
LocusID (NCBI) 2099
Atlas_Id 40499
Location 6q25.1
Location_base_pair Starts at 152128814 and ends at 152424408 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
E2F1 (20q11.22) / ESR1 (6q25.1)ESR1 (6q25.1) / ARMT1 (6q25.1)ESR1 (6q25.1) / ASPH (8q12.3)
ESR1 (6q25.1) / BNC2 (9p22.3)ESR1 (6q25.1) / CCDC170 (6q25.1)ESR1 (6q25.1) / LOC100287944 (12q23.3)
ESR1 (6q25.1) / MTHFD1L (6q25.1)ESR1 (6q25.1) / TFB1M (6q25.3)ESR1 (6q25.1) / USP25 (21q21.1)
FASN (17q25.3) / ESR1 (6q25.1)MALAT1 (11q13.1) / ESR1 (6q25.1)TULP4 (6q25.3) / ESR1 (6q25.1)
ESR1 6q25.1 / ASPH 8q12.3ESR1 6q25.1 / BNC2 9p22.3ESR1 6q25.1 C6orf211
ESR1 6q25.1 C6orf97ESR1 6q25.1 / MTHFD1L 6q25.1ESR1 6q25.1 / TFB1M 6q25.3
ESR1 6q25.1 / USP25 21q21.1TULP4 6q25.3 / ESR1 6q25.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;9)(p22;q34) DEK/NUP214
t(9;13)(p12;q21) PAX5/DACH1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Soft Tissues: Aggressive angiomyxoma
Soft Tissues: Desmoid-type fibromatosis
Breast: Ductal carcinoma
Uterus: Leiomyoma
Thyroid: Medullary carcinoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Hereditary breast cancer

External links

Nomenclature
HGNC (Hugo)ESR1   3467
Cards
Entrez_Gene (NCBI)ESR1  2099  estrogen receptor 1
GeneCards (Weizmann)ESR1
Ensembl hg19 (Hinxton)ENSG00000091831 [Gene_View]  chr6:152128814-152424408 [Contig_View]  ESR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000091831 [Gene_View]  chr6:152128814-152424408 [Contig_View]  ESR1 [Vega]
ICGC DataPortalENSG00000091831
TCGA cBioPortalESR1
AceView (NCBI)ESR1
Genatlas (Paris)ESR1
WikiGenes2099
SOURCE (Princeton)ESR1
Genomic and cartography
GoldenPath hg19 (UCSC)ESR1  -     chr6:152128814-152424408 +  6q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ESR1  -     6q25.1   [Description]    (hg38-Dec_2013)
EnsemblESR1 - 6q25.1 [CytoView hg19]  ESR1 - 6q25.1 [CytoView hg38]
Mapping of homologs : NCBIESR1 [Mapview hg19]  ESR1 [Mapview hg38]
OMIM114480   133430   157300   608446   615363   
Gene and transcription
Genbank (Entrez)AB307713 AB588629 AB588630 AB685814 AB685815
RefSeq transcript (Entrez)NM_000125 NM_001122740 NM_001122741 NM_001122742 NM_001291230 NM_001291241
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_008493 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)ESR1
Cluster EST : UnigeneHs.744830 [ NCBI ]
CGAP (NCI)Hs.744830
Alternative Splicing GalleryENSG00000091831
Gene ExpressionESR1 [ NCBI-GEO ]   ESR1 [ EBI - ARRAY_EXPRESS ]   ESR1 [ SEEK ]   ESR1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2099
GTEX Portal (Tissue expression)ESR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP03372 (Uniprot)
NextProtP03372  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP03372
Splice isoforms : SwissVarP03372 (Swissvar)
PhosPhoSitePlusP03372
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Oest_rcpt/oest-rel_rcp    Oestr_rcpt    Oestrogen-typ_rcpt_final_C_dom    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)ESR1_C (PF12743)    Hormone_recep (PF00104)    Oest_recep (PF02159)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam12743    pfam00104    pfam02159    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
DMDM Disease mutations2099
Blocks (Seattle)ESR1
PDB (SRS)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA    4IU7    4IUI    4IV2    4IV4    4IVW    4IVY    4IW6    4IW8    4IWC    4IWF    4JC3    4JDD    4MG5    4MG6    4MG7    4MG8    4MG9    4MGA    4MGB    4MGC    4MGD    4O6F    4PP6    4PPP    4PPS    4PXM    4Q13    4Q50    4TUZ    4TV1    4XI3    4ZN9    5AAU    5AAV    5ACC    5AK2   
PDB (PDBSum)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA    4IU7    4IUI    4IV2    4IV4    4IVW    4IVY    4IW6    4IW8    4IWC    4IWF    4JC3    4JDD    4MG5    4MG6    4MG7    4MG8    4MG9    4MGA    4MGB    4MGC    4MGD    4O6F    4PP6    4PPP    4PPS    4PXM    4Q13    4Q50    4TUZ    4TV1    4XI3    4ZN9    5AAU    5AAV    5ACC    5AK2   
PDB (IMB)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA    4IU7    4IUI    4IV2    4IV4    4IVW    4IVY    4IW6    4IW8    4IWC    4IWF    4JC3    4JDD    4MG5    4MG6    4MG7    4MG8    4MG9    4MGA    4MGB    4MGC    4MGD    4O6F    4PP6    4PPP    4PPS    4PXM    4Q13    4Q50    4TUZ    4TV1    4XI3    4ZN9    5AAU    5AAV    5ACC    5AK2   
PDB (RSDB)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA    4IU7    4IUI    4IV2    4IV4    4IVW    4IVY    4IW6    4IW8    4IWC    4IWF    4JC3    4JDD    4MG5    4MG6    4MG7    4MG8    4MG9    4MGA    4MGB    4MGC    4MGD    4O6F    4PP6    4PPP    4PPS    4PXM    4Q13    4Q50    4TUZ    4TV1    4XI3    4ZN9    5AAU    5AAV    5ACC    5AK2   
Structural Biology KnowledgeBase1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA    4IU7    4IUI    4IV2    4IV4    4IVW    4IVY    4IW6    4IW8    4IWC    4IWF    4JC3    4JDD    4MG5    4MG6    4MG7    4MG8    4MG9    4MGA    4MGB    4MGC    4MGD    4O6F    4PP6    4PPP    4PPS    4PXM    4Q13    4Q50    4TUZ    4TV1    4XI3    4ZN9    5AAU    5AAV    5ACC    5AK2   
SCOP (Structural Classification of Proteins)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA    4IU7    4IUI    4IV2    4IV4    4IVW    4IVY    4IW6    4IW8    4IWC    4IWF    4JC3    4JDD    4MG5    4MG6    4MG7    4MG8    4MG9    4MGA    4MGB    4MGC    4MGD    4O6F    4PP6    4PPP    4PPS    4PXM    4Q13    4Q50    4TUZ    4TV1    4XI3    4ZN9    5AAU    5AAV    5ACC    5AK2   
CATH (Classification of proteins structures)1A52    1AKF    1ERE    1ERR    1G50    1GWQ    1GWR    1HCP    1HCQ    1L2I    1PCG    1QKT    1QKU    1R5K    1SJ0    1UOM    1X7E    1X7R    1XP1    1XP6    1XP9    1XPC    1XQC    1YIM    1YIN    1ZKY    2AYR    2B1V    2B1Z    2B23    2BJ4    2FAI    2G44    2G5O    2I0J    2IOG    2IOK    2JF9    2JFA    2LLO    2LLQ    2OCF    2OUZ    2P15    2POG    2Q6J    2Q70    2QA6    2QA8    2QAB    2QE4    2QGT    2QGW    2QH6    2QR9    2QSE    2QXM    2QXS    2QZO    2R6W    2R6Y    2YAT    2YJA    3CBM    3CBO    3CBP    3DT3    3ERD    3ERT    3HLV    3HM1    3L03    3OS8    3OS9    3OSA    3Q95    3Q97    3UU7    3UUA    3UUC    3UUD    4AA6    4DMA    4IU7    4IUI    4IV2    4IV4    4IVW    4IVY    4IW6    4IW8    4IWC    4IWF    4JC3    4JDD    4MG5    4MG6    4MG7    4MG8    4MG9    4MGA    4MGB    4MGC    4MGD    4O6F    4PP6    4PPP    4PPS    4PXM    4Q13    4Q50    4TUZ    4TV1    4XI3    4ZN9    5AAU    5AAV    5ACC    5AK2   
SuperfamilyP03372
Human Protein AtlasENSG00000091831
Peptide AtlasP03372
HPRD00589
IPIIPI00294982   IPI00218352   IPI01018719   IPI00807600   IPI00942862   IPI01025596   IPI00914846   IPI00969222   IPI00973132   IPI00914643   IPI00025064   IPI00922288   IPI01018934   IPI00914588   IPI00879773   IPI00902535   IPI00878052   
Protein Interaction databases
DIP (DOE-UCLA)P03372
IntAct (EBI)P03372
FunCoupENSG00000091831
BioGRIDESR1
STRING (EMBL)ESR1
ZODIACESR1
Ontologies - Pathways
QuickGOP03372
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcription coactivator binding  antral ovarian follicle growth  osteoblast development  chromatin binding  transcription factor activity, sequence-specific DNA binding  steroid hormone receptor activity  steroid binding  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  Golgi apparatus  plasma membrane  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  beta-catenin binding  transcription factor binding  androgen metabolic process  zinc ion binding  negative regulation of gene expression  positive regulation of phospholipase C activity  membrane  integral component of membrane  enzyme binding  nitric-oxide synthase regulator activity  estrogen receptor activity  T-tubule  intracellular steroid hormone receptor signaling pathway  intracellular estrogen receptor signaling pathway  type 1 metabotropic glutamate receptor binding  response to estradiol  protein complex binding  estrogen response element binding  transcriptionally active chromatin  phosphatidylinositol 3-kinase regulatory subunit binding  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  hormone binding  identical protein binding  negative regulation of I-kappaB kinase/NF-kappaB signaling  terminal bouton  perikaryon  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  regulation of neuron apoptotic process  response to estrogen  positive regulation of nitric oxide biosynthetic process  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of glucose import  decidualization  positive regulation of fibroblast proliferation  perinuclear region of cytoplasm  negative regulation of smooth muscle cell proliferation  positive regulation of epithelial cell proliferation  positive regulation of nitric-oxide synthase activity  positive regulation of sequence-specific DNA binding transcription factor activity  ATPase binding  Sertoli cell development  Sertoli cell proliferation  uterus development  vagina development  prostate epithelial cord elongation  prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  regulation of branching involved in prostate gland morphogenesis  mammary gland branching involved in pregnancy  mammary gland alveolus development  epithelial cell proliferation involved in mammary gland duct elongation  positive regulation of ERK1 and ERK2 cascade  protein localization to chromatin  cellular response to estradiol stimulus  cellular response to estradiol stimulus  negative regulation of triglyceride metabolic process  negative regulation of neuron death  negative regulation of production of miRNAs involved in gene silencing by miRNA  baculum development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcription coactivator binding  antral ovarian follicle growth  osteoblast development  chromatin binding  transcription factor activity, sequence-specific DNA binding  steroid hormone receptor activity  steroid binding  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  Golgi apparatus  plasma membrane  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  beta-catenin binding  transcription factor binding  androgen metabolic process  zinc ion binding  negative regulation of gene expression  positive regulation of phospholipase C activity  membrane  integral component of membrane  enzyme binding  nitric-oxide synthase regulator activity  estrogen receptor activity  T-tubule  intracellular steroid hormone receptor signaling pathway  intracellular estrogen receptor signaling pathway  type 1 metabotropic glutamate receptor binding  response to estradiol  protein complex binding  estrogen response element binding  transcriptionally active chromatin  phosphatidylinositol 3-kinase regulatory subunit binding  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding  hormone binding  identical protein binding  negative regulation of I-kappaB kinase/NF-kappaB signaling  terminal bouton  perikaryon  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  regulation of neuron apoptotic process  response to estrogen  positive regulation of nitric oxide biosynthetic process  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of glucose import  decidualization  positive regulation of fibroblast proliferation  perinuclear region of cytoplasm  negative regulation of smooth muscle cell proliferation  positive regulation of epithelial cell proliferation  positive regulation of nitric-oxide synthase activity  positive regulation of sequence-specific DNA binding transcription factor activity  ATPase binding  Sertoli cell development  Sertoli cell proliferation  uterus development  vagina development  prostate epithelial cord elongation  prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  regulation of branching involved in prostate gland morphogenesis  mammary gland branching involved in pregnancy  mammary gland alveolus development  epithelial cell proliferation involved in mammary gland duct elongation  positive regulation of ERK1 and ERK2 cascade  protein localization to chromatin  cellular response to estradiol stimulus  cellular response to estradiol stimulus  negative regulation of triglyceride metabolic process  negative regulation of neuron death  negative regulation of production of miRNAs involved in gene silencing by miRNA  baculum development  
Pathways : BIOCARTARole of ERBB2 in Signal Transduction and Oncology [Genes]    Estrogen-responsive protein Efp controls cell cycle and breast tumors growth [Genes]    Pelp1 Modulation of Estrogen Receptor Activity [Genes]    CARM1 and Regulation of the Estrogen Receptor [Genes]    Downregulated of MTA-3 in ER-negative Breast Tumors [Genes]   
Pathways : KEGGEstrogen signaling pathway    Prolactin signaling pathway    Thyroid hormone signaling pathway    Endocrine and other factor-regulated calcium reabsorption    Proteoglycans in cancer   
NDEx Network
Atlas of Cancer Signalling NetworkESR1
Wikipedia pathwaysESR1
Orthology - Evolution
OrthoDB2099
GeneTree (enSembl)ENSG00000091831
Phylogenetic Trees/Animal Genes : TreeFamESR1
Homologs : HomoloGeneESR1
Homology/Alignments : Family Browser (UCSC)ESR1
Gene fusions - Rearrangements
Fusion: TCGAESR1 6q25.1 ASPH 8q12.3 BRCA
Fusion: TCGAESR1 6q25.1 BNC2 9p22.3 BRCA
Fusion: TCGAESR1 6q25.1 C6orf211 BRCA
Fusion: TCGAESR1 6q25.1 C6orf97 BRCA
Fusion: TCGAESR1 6q25.1 MTHFD1L 6q25.1 BRCA
Fusion: TCGAESR1 6q25.1 TFB1M 6q25.3 LUSC
Fusion: TCGAESR1 6q25.1 USP25 21q21.1 BRCA
Fusion: TCGATULP4 6q25.3 ESR1 6q25.1 LUSC
Polymorphisms : SNP, variants
NCBI Variation ViewerESR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESR1
dbVarESR1
ClinVarESR1
1000_GenomesESR1 
Exome Variant ServerESR1
ExAC (Exome Aggregation Consortium)ESR1 (select the gene name)
Genetic variants : HAPMAP2099
Genomic Variants (DGV)ESR1 [DGVbeta]
Mutations
ICGC Data PortalESR1 
TCGA Data PortalESR1 
Broad Tumor PortalESR1
OASIS PortalESR1 [ Somatic mutations - Copy number]
Cancer Gene: CensusESR1 
Somatic Mutations in Cancer : COSMICESR1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ESR1
DgiDB (Drug Gene Interaction Database)ESR1
DoCM (Curated mutations)ESR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESR1 (select a term)
intoGenESR1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:152128814-152424408  ENSG00000091831
CONAN: Copy Number AnalysisESR1 
Mutations and Diseases : HGMDESR1
OMIM114480    133430    157300    608446    615363   
MedgenESR1
Genetic Testing Registry ESR1
NextProtP03372 [Medical]
TSGene2099
GENETestsESR1
Huge Navigator ESR1 [HugePedia]
snp3D : Map Gene to Disease2099
BioCentury BCIQESR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2099
Chemical/Pharm GKB GenePA156
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