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  2. NR1H4

NR1H4

Analyte Export to PDF
Name:
nuclear receptor subfamily 1 group H member 4
Symbol:
NR1H4
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
FXR
HRR-1
HRR1
RIP14
bile acid receptor
farnesoid X receptor
XREF(s):
Orphanet
Genatlas
HGNC
OMIM
Reactome
SwissProt
Ensembl
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Cholestasis (40 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 100.00 1 Part of Gastro-pneumo panel
    ABCB4 100.00 1 Part of Gastro-pneumo panel
    AKR1D1 100.00 1 Part of Gastro-pneumo panel
    AMACR 100.00 1 Part of Gastro-pneumo panel
    ATP8B1 100.00 1 Part of Gastro-pneumo panel
    BAAT 100.00 1 Part of Gastro-pneumo panel
    BCS1L 100.00 1 Part of Gastro-pneumo panel
    CC2D2A 100.00 1 Part of Gastro-pneumo panel
    CLDN1 100.00 1 Part of Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Gastro-pneumo panel
    CYP7B1 100.00 1 Part of Gastro-pneumo panel
    DCDC2 100.00 1 Part of Gastro-pneumo panel
    DGUOK 100.00 1 Part of Gastro-pneumo panel
    HNF1B 100.00 1 Part of Gastro-pneumo panel
    HSD3B7 100.00 1 Part of Gastro-pneumo panel
    INVS 100.00 1 Part of Gastro-pneumo panel
    JAG1 100.00 1 Part of Gastro-pneumo panel
    MKS1 100.00 1 Part of Gastro-pneumo panel
    MPV17 100.00 1 Part of Gastro-pneumo panel
    NOTCH2 100.00 1 Part of Gastro-pneumo panel
    NPC1 100.00 1 Part of Gastro-pneumo panel
    NPC2 100.00 1 Part of Gastro-pneumo panel
    NPHP1 100.00 1 Part of Gastro-pneumo panel
    NPHP3 100.00 1 Part of Gastro-pneumo panel
    NPHP4 100.00 1 Part of Gastro-pneumo panel
    NR1H4 100.00 1 Part of Gastro-pneumo panel
    PKHD1 100.00 1 Part of Gastro-pneumo panel
    PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918
    POLG 100.00 1 Part of Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Gastro-pneumo panel
    SMPD1 100.00 1 Part of Gastro-pneumo panel
    TALDO1 100.00 1 Part of Gastro-pneumo panel
    TJP2 100.00 1 Part of Gastro-pneumo panel
    TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926
    TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738
    TMEM216 100.00 1 Part of Gastro-pneumo panel
    TRMU 100.00 1 Part of Gastro-pneumo panel
    UGT1A1 100.00 1 Part of Gastro-pneumo panel
    VIPAS39 100.00 1 Part of Gastro-pneumo panel
    VPS33B 100.00 1 Part of Gastro-pneumo panel
  • Cholestasis, progressive familial intrahepatic (5 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 100.00 1 Part of Gastro-pneumo panel
    ABCB4 100.00 1 Part of Gastro-pneumo panel
    ATP8B1 100.00 1 Part of Gastro-pneumo panel
    NR1H4 100.00 1 Part of Gastro-pneumo panel
    TJP2 100.00 1 Part of Gastro-pneumo panel
  • Hepatology panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 99.86 1
    ABCB4 99.71 1
    ABCC2 99.94 1
    ABCD3 92.70 1
    ABCG5 99.96 1
    ABCG8 99.95 1
    ACADM 96.14 1
    ACADVL 100.00 1
    ACAT1 99.81 1
    ACOX2 99.81 1
    ADK 99.78 1
    AGL 97.67 1
    AGPAT2 100.00 1
    AKR1D1 99.91 1
    ALAD 99.99 1
    ALDOA 100.00 1
    ALDOB 100.00 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALMS1 99.90 1
    AMACR 100.00 1
    ANKS6 100.00 1
    AP1S1 99.49 1
    ARG1 99.95 1
    ASL 99.98 1
    ASS1 77.52 1
    ATP7B 100.00 1
    ATP8B1 99.94 1
    BAAT 99.98 1
    BCS1L 99.99 1
    BSCL2 99.99 1
    BTD 100.00 1
    CAVIN1 100.00 1
    CC2D2A 99.95 1
    CCDC115 99.90 1
    CFTR 99.45 1
    CLDN1 99.99 1
    COG6 99.86 1
    COG7 99.74 1
    CYP21A2 99.91 1
    CPT1A 99.98 1
    CPT2 99.65 1
    CREB3L3 99.98 1
    CYP27A1 100.00 1
    CYP7A1 99.99 1
    CYP7B1 99.82 1
    DCDC2 99.96 1
    DGUOK 99.93 1
    DHCR7 99.97 1
    DKC1 99.59 1
    DLD 99.89 1
    DNAJB11 99.97 1
    EHHADH 99.99 1
    EIF2AK3 97.43 1
    ENO3 100.00 1
    EPHX1 99.97 1
    EPM2A 99.99 1
    ETFA 99.88 1
    ETFB 100.00 1
    FANCA 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBP1 100.00 1
    FTH1 22.62 1
    G6PC1 99.93 1
    GAA 100.00 1
    GALE 99.90 1
    GALK1 100.00 1
    GALM 100.00 1
    GALT 100.00 1
    GANAB 99.97 1
    GBA1 96.92 1
    GBE1 99.73 1
    GFM1 99.95 1
    GNAS 100.00 1
    GUSB 95.07 1
    GYS1 99.98 1
    GYS2 99.86 1
    HADHA 99.98 1
    HAMP 99.99 1
    HFE 100.00 1
    HJV 99.99 1
    HLCS 99.97 1
    HNF1B 100.00 1
    HSD17B4 99.71 1
    HSD3B7 100.00 1
    IARS1 99.89 1
    IFT140 100.00 1
    INVS 99.94 1
    IVD 100.00 1
    JAG1 100.00 1
    KIF12 99.99 1
    KRT18 47.42 1
    KRT8 71.60 1
    LAMP2 98.95 1
    LARS1 99.87 1
    LDHA 99.94 1
    LIPA 99.96 1
    LRP5 99.95 1
    LSR 99.98 1
    MARS1 99.97 1
    MCEE 99.90 1
    MKS1 99.92 1
    MMUT 99.68 1
    MPI 99.95 1
    MPV17 99.98 1
    MVK 99.97 1
    MYO5B 100.00 1
    NBAS 99.86 1
    NEK9 99.99 1
    NEU1 99.98 1
    NGLY1 99.93 1
    NHLRC1 100.00 1
    NOTCH2 99.03 1
    NPC1 99.99 1
    NPC2 100.00 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NR1H4 99.49 1
    OXCT1 99.82 1
    PODXL 99.99 1
    PCCA 99.90 1
    PCCB 99.97 1
    PEX1 98.80 1
    PEX10 100.00 1
    PEX11B 99.62 1
    PEX12 100.00 1
    PEX13 99.36 1
    PEX14 100.00 1
    PEX16 99.94 1
    PEX19 99.25 1
    PEX2 100.00 1
    PEX26 100.00 1
    PEX3 99.85 1
    PEX5 99.89 1
    PEX6 99.99 1
    PEX7 99.72 1
    PFKM 99.57 1
    PGAM2 100.00 1
    PGK1 99.93 1
    PGM1 96.77 1
    PHKA1 99.84 1
    PHKA2 99.92 1
    PHKB 99.69 1
    PHKG2 99.86 1
    PKD1 99.98 1
    PKD2 99.91 1
    PKHD1 99.95 1
    PMM2 99.93 1
    PNPLA3 100.00 1
    POLG 100.00 1
    PPM1F 100.00 1
    PRKAG2 99.96 1
    PRKCSH 99.99 1
    PYGL 99.99 1
    PYGM 99.96 1
    RBCK1 100.00 1
    RINT1 99.99 1
    RPGRIP1L 96.35 1
    SBDS 99.93 1
    SCO1 99.98 1
    SEC63 99.84 1
    SERPINA1 100.00 1
    SLC10A1 99.99 1
    SLC10A2 99.99 1
    SLC16A1 99.26 1
    SLC25A13 99.67 1
    SLC25A20 100.00 1
    SLC2A2 99.96 1
    SLC30A10 99.99 1
    SLC51A 100.00 1
    SLCO1B1 98.69 1
    SLCO1B3 99.85 1
    SMPD1 100.00 1
    PMP22 99.99 1
    STN1 99.88 1
    STT3B 99.96 1
    TALDO1 100.00 1
    TANGO2 99.85 1
    TFR2 99.97 1
    TJP2 99.99 1
    TMEM216 99.98 1
    TMEM67 99.69 1
    TRMU 100.00 1
    SKIC3 99.82 1
    TWNK 100.00 1
    UGT1A1 99.98 1
    UNC45A 100.00 1
    UROS 100.00 1
    USP53 99.92 1
    UTP4 99.91 1
    VIPAS39 99.87 1
    VPS33B 99.95 1
    VPS50 98.35 1
    WDR83OS 100.00 1
    YARS1 99.29 1
    ZFYVE19 99.99 1