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  2. ESR1

ESR1

Analyte Export to PDF
Name:
estrogen receptor 1
Symbol:
ESR1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
E2 receptor alpha
ER-alpha
Era
NR3A1
estrogen receptor alpha
nuclear receptor subfamily 3 group A member 1
oestrogen receptor alpha
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 99.98 1
    AKR1C2 91.19 1
    AKR1C4 100.00 1
    AMH 100.00 1
    AMHR2 99.96 1
    ANOS1 99.96 1
    AR 99.76 1
    ARX 95.36 1
    ATRX 99.44 1
    AXL 99.97 1
    BMP15 99.98 1
    BMP4 100.00 1
    BNC1 100.00 1
    CBX2 100.00 1
    CHD7 99.99 1
    CLPP 99.99 1
    CREBBP 99.97 1
    CYB5A 99.98 1
    CYP11A1 99.99 1
    CYP11B1 100.00 1
    CYP17A1 100.00 1
    CYP19A1 99.99 1
    CYP21A2 99.85 1
    DHCR7 99.97 1
    DHH 100.00 1
    DHX37 99.98 1
    DMRT1 99.99 1
    DMXL2 99.86 1
    DUSP6 99.99 1
    EIF4ENIF1 100.00 1
    EP300 99.97 1
    ESR1 100.00 1
    ESR2 99.96 1
    FANCM 99.83 1
    FEZF1 100.00 1
    FGF17 99.81 1
    FGF8 100.00 1
    FGF9 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FIGLA 99.95 1
    FLRT3 100.00 1
    FOXL2 99.97 1
    FSHB 100.00 1
    FSHR 99.99 1
    GATA4 99.99 1
    GDF9 99.98 1
    GNRH1 99.96 1
    GNRHR 99.94 1
    HDAC8 99.74 1
    HESX1 99.77 1
    HFM1 89.74 1
    HHAT 99.93 1
    HOXA13 99.94 1
    HS6ST1 99.99 1
    HSD17B3 99.77 1
    HSD17B4 99.71 1
    HSD3B2 100.00 1
    IL17RD 99.94 1
    INSL3 98.02 1
    KHDRBS1 99.35 1
    KISS1 99.97 1
    KISS1R 100.00 1
    LARS2 99.96 1
    LEP 100.00 1
    LEPR 92.52 1
    LHB 99.93 1
    LHCGR 99.94 1
    LHX1 99.96 1
    LHX3 99.99 1
    LHX4 99.99 1
    MAMLD1 99.84 1
    MAP3K1 99.93 1
    MCM8 98.78 1
    MCM9 99.76 1
    MEIOB 99.98 1
    MID1 99.90 1
    MRPS22 99.87 1
    MSH4 89.29 1
    MSH5 100.00 1
    NANOS3 100.00 1
    NBN 99.93 1
    NOBOX 99.95 1
    NR0B1 99.98 1
    NR2F2 100.00 1
    NR5A1 99.92 1
    NSMF 100.00 1
    NUP107 97.46 1
    OTUD4 99.83 1
    PATL2 99.99 1
    PCSK1 99.99 1
    PNPLA6 99.99 1
    POF1B 99.34 1
    POLR2C 99.99 1
    POLR3A 99.97 1
    PORCN 99.98 1
    PROK2 98.65 1
    PROKR2 100.00 1
    PROP1 99.88 1
    PSMC3IP 99.82 1
    RNF216 99.99 1
    RSPO1 99.99 1
    RXFP2 99.99 1
    SEMA3A 99.42 1
    SEMA7A 99.90 1
    SOHLH1 100.00 1
    SOHLH2 100.00 1
    SOX10 100.00 1
    SOX2 100.00 1
    SOX3 100.00 1
    SOX8 99.99 1
    SOX9 100.00 1
    SPIDR 99.96 1
    SPRY4 100.00 1
    SRD5A2 100.00 1
    SRY 51.98 1
    STAG3 98.99 1
    GUCY2C 99.97 1
    SYCE1 99.99 1
    TAC3 99.94 1
    TACR3 99.99 1
    TP63 99.97 1
    TSPYL1 100.00 1
    TWNK 100.00 1
    WDR11 99.91 1
    WNT4 99.94 1
    WT1 99.99 1
    WWOX 100.00 1
    ZFPM2 100.00 1
    ZNRF3 99.94 1
  • Premature Ovarian Failure/Insufficiency (32 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AFF2 100.00 0
    AMH 75.52 0
    AMHR2 100.00 0
    BMP15 100.00 0
    DACH2 99.75 0
    DAZL 100.00 0
    DIAPH2 100.00 0
    DMC1 100.00 0
    ESR1 99.95 0
    FIGLA 98.07 0
    FMR1 100.00 0
    FOXL2 85.42 0
    FOXO1 86.72 0
    FOXO3 99.72 0
    FSHR 100.00 0
    GDF9 100.00 0
    GPR3 100.00 0
    HFM1 100.00 0
    INHA 100.00 0
    LHCGR 99.37 0
    MCM8 97.95 0
    MSH5 99.82 -2
    NOBOX 100.00 0
    NR5A1 100.00 0
    PATL2 100.00 0
    PGRMC1 100.00 0
    POF1B 100.00 0
    SOHLH1 100.00 0
    SOHLH2 96.06 0
    STAG3 99.70 0
    TGFBR3 100.00 0
    XPNPEP2 100.00 0