TF information

TF name: NR1H4
TF family: THR-like
Ensembl gene ID: ENSG00000012504
Ensembl protein ID: ENSP00000315442, ENSP00000447149, ENSP00000448978, ENSP00000448506, ENSP00000376712, ENSP00000188403
Entrez gene ID: 9971
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of NR1H4 in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_02_285Cell lineLiverHuH7_untreat0.062717770034843

NR1H4 distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name

NR1H4 distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with NR1H4
Download

Mutation of NR1H4
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of NR1H4

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
rs748378207chr12100930769100930769CTexonicNR1H4nonsynonymous OV|1|469|0.00213
-chr12100934551100934551C-exonicNR1H4frameshift HNSC|1|512|0.00195
rs113431969chr12100904745100904745GAexonicNR1H4nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122,STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100934521100934521CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272,UCS|1|57|0.01754
-chr12100904667100904667CTexonicNR1H4nonsynonymous LUAD|1|543|0.00184
-chr12100904692100904692CTexonicNR1H4synonymous PCPG|1|184|0.00543
rs767379406chr12100904824100904824GAexonicNR1H4synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,HNSC|1|512|0.00195,STAD|3|395|0.00759,STES|3|395|0.00759
-chr12100897181100897181CTexonicNR1H4stopgain LUSC|1|178|0.00562
-chr12100957089100957089TCexonicNR1H4nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100904705100904705CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100926320100926320GTexonicNR1H4nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100897255100897255GTexonicNR1H4nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
rs778260507chr12100928723100928723GAexonicNR1H4synonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs778715261chr12100957258100957258CTexonicNR1H4synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100957204100957204GAexonicNR1H4nonsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
-chr12100930752100930752ATexonicNR1H4nonsynonymous BRCA|1|982|0.00102
-chr12100928694100928694TCexonicNR1H4nonsynonymous HNSC|1|512|0.00195
-chr12100926300100926300GAexonicNR1H4synonymous LUAD|1|543|0.00184
rs766734563chr12100897268100897268GAexonicNR1H4nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr12100904813100904813CAexonicNR1H4nonsynonymous HNSC|1|512|0.00195
-chr12100897237100897237-TexonicNR1H4frameshift ESCA|1|185|0.00541
-chr12100926345100926345GAexonicNR1H4synonymous SKCM|1|368|0.00272
-chr12100930822100930822CAexonicNR1H4nonsynonymous PAAD|1|185|0.00541
-chr12100955769100955769GAexonicNR1H4synonymous UCEC|1|248|0.00403
-chr12100897224100897224GTexonicNR1H4nonsynonymous LUAD|1|543|0.00184
rs747025458chr12100897230100897230CTexonicNR1H4nonsynonymous LUAD|1|543|0.00184
rs769086612chr12100904813100904813CTexonicNR1H4nonsynonymous CESC|1|194|0.00515
-chr12100930764100930764TGexonicNR1H4nonsynonymous UCEC|1|248|0.00403
-chr12100930826100930826GAsplicingNR1H4splicing OV|1|469|0.00213
-chr12100930750100930750GCexonicNR1H4nonsynonymous LUSC|1|178|0.00562
-chr12100957082100957082CTexonicNR1H4nonsynonymous LUAD|4|543|0.00737
-chr12100934501100934501CGexonicNR1H4nonsynonymous LUAD|1|543|0.00184
rs200231287chr12100926265100926265GTexonicNR1H4nonsynonymous LUAD|1|543|0.00184
-chr12100957220100957220GTexonicNR1H4nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100930806100930806ACexonicNR1H4nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100934464100934464GAexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100904639100904639CAexonicNR1H4nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100934522100934522GAexonicNR1H4nonsynonymous UCEC|1|248|0.00403
-chr12100930756100930756TGexonicNR1H4nonsynonymous UCEC|1|248|0.00403
-chr12100930351100930351AGexonicNR1H4nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100957037100957037TCexonicNR1H4nonsynonymous BLCA|1|396|0.00253
-chr12100930343100930343TGexonicNR1H4nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs375599105chr12100904822100904822GAexonicNR1H4nonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr12100904904100904904CTexonicNR1H4nonsynonymous LUAD|1|543|0.00184
-chr12100928670100928670TGexonicNR1H4nonsynonymous UCS|1|57|0.01754
-chr12100904587100904587G-exonicNR1H4frameshift LUSC|1|178|0.00562
rs148156024chr12100904617100904617GAexonicNR1H4synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100955661100955661ATsplicingNR1H4splicing HNSC|1|512|0.00195
-chr12100904848100904848TAexonicNR1H4nonsynonymous LUSC|1|178|0.00562
-chr12100904596100904596CTexonicNR1H4synonymous BRCA|1|982|0.00102
-chr12100928726100928726TCexonicNR1H4synonymous LUAD|1|543|0.00184
-chr12100955731100955731CAexonicNR1H4nonsynonymous LIHC|1|373|0.00268
-chr12100930297100930297CGexonicNR1H4nonsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
rs764421287chr12100928794100928794CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272
rs768563784chr12100928738100928738CAexonicNR1H4synonymous LUAD|1|543|0.00184
-chr12100887103100887103TAexonicNR1H4nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100934550100934550TGexonicNR1H4synonymous SARC|1|247|0.00405
rs762904675chr12100934588100934588GAexonicNR1H4nonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820,SKCM|1|368|0.00272
rs113090017chr12100926316100926316CTexonicNR1H4stopgain SARC|1|247|0.00405
-chr12100928730100928730GCexonicNR1H4nonsynonymous BRCA|1|982|0.00102
-chr12100926383100926383ACexonicNR1H4nonsynonymous LIHC|1|373|0.00268
-chr12100955671100955671GAexonicNR1H4nonsynonymous BRCA|1|982|0.00102
rs770333055chr12100926248100926248GTexonicNR1H4nonsynonymous UCEC|1|248|0.00403
rs760756841chr12100957179100957179AGexonicNR1H4nonsynonymous BRCA|1|982|0.00102
-chr12100926248100926248GCexonicNR1H4nonsynonymous LUAD|1|543|0.00184
-chr12100904639100904639C-exonicNR1H4frameshift LIHC|1|373|0.00268
-chr12100955674100955674GTexonicNR1H4stopgain HNSC|1|512|0.00195
-chr12100930770100930770GAexonicNR1H4synonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr12100934531100934539AGATTTTCA-exonicNR1H4nonframeshift LIHC|1|373|0.00268
-chr12100904796100904796CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100928777100928777GCexonicNR1H4synonymous BRCA|2|982|0.00204
-chr12100904593100904593GCexonicNR1H4nonsynonymous LUAD|1|543|0.00184
rs764990636chr12100934575100934575GAexonicNR1H4nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr12100928734100928734ATexonicNR1H4nonsynonymous LUSC|1|178|0.00562
-chr12100897197100897197CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100928738100928738CGexonicNR1H4synonymous LUSC|1|178|0.00562
-chr12100904721100904721CGexonicNR1H4nonsynonymous BLCA|1|396|0.00253
-chr12100926237100926237TCexonicNR1H4synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100897200100897200TAexonicNR1H4nonsynonymous OV|1|469|0.00213
-chr12100926373100926373GAexonicNR1H4nonsynonymous LUAD|3|543|0.00552
-chr12100930827100930827TCsplicingNR1H4splicing STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100934589100934589AGexonicNR1H4synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100904774100904774GAexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100928704100928704TCexonicNR1H4nonsynonymous LUAD|1|543|0.00184,SKCM|1|368|0.00272
-chr12100957235100957235CAexonicNR1H4nonsynonymous LUSC|1|178|0.00562
-chr12100904867100904867GTexonicNR1H4stopgain UCEC|1|248|0.00403
-chr12100934528100934528CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100897248100897248ATexonicNR1H4nonsynonymous LUAD|1|543|0.00184
-chr12100926360100926360GAexonicNR1H4nonsynonymous LUAD|3|543|0.00552
-chr12100904849100904852GAGC-exonicNR1H4frameshift SKCM|2|368|0.00543
-chr12100934574100934574GAexonicNR1H4synonymous LUAD|4|543|0.00737
rs750165978chr12100904735100904735GAexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100897247100897247GAexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100897210100897210TCexonicNR1H4synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100904815100904815CAexonicNR1H4synonymous LUAD|1|543|0.00184
-chr12100904719100904719CAexonicNR1H4stopgain BLCA|1|396|0.00253
-chr12100926293100926293AGexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100904639100904639CTexonicNR1H4nonsynonymous BLCA|1|396|0.00253
-chr12100897258100897258TAexonicNR1H4nonsynonymous LUSC|1|178|0.00562
-chr12100926317100926317GAexonicNR1H4nonsynonymous SKCM|2|368|0.00543
rs750222671chr12100934587100934587CAexonicNR1H4synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100928758100928758GAexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100928738100928738CTexonicNR1H4synonymous SKCM|1|368|0.00272
-chr12100955744100955744CTexonicNR1H4nonsynonymous HNSC|1|512|0.00195
-chr12100928737100928737CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100926249100926249ATexonicNR1H4nonsynonymous LUAD|1|543|0.00184
rs748525265chr12100897267100897267CAexonicNR1H4synonymous LUAD|1|543|0.00184
-chr12100957095100957095A-exonicNR1H4frameshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100887129100887129CAexonicNR1H4nonsynonymous LUSC|1|178|0.00562
-chr12100957082100957082CAexonicNR1H4nonsynonymous UCEC|1|248|0.00403
-chr12100955761100955761GTexonicNR1H4nonsynonymous ESCA|1|185|0.00541
rs868079755chr12100904661100904661CTexonicNR1H4nonsynonymous SKCM|1|368|0.00272
-chr12100887150100887150GTexonicNR1H4nonsynonymous UCEC|1|248|0.00403
-chr12100957256100957256GAexonicNR1H4nonsynonymous LIHC|1|373|0.00268
-chr12100904733100904733ATexonicNR1H4nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr12100934587100934587CTexonicNR1H4stopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr12100904815100904815CTexonicNR1H4synonymous LUAD|1|543|0.00184

Disease information of NR1H4
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
NR1H4 Cholestasis C06 Disease or Syndrome CTD_human;GENOMICS_ENGLAND
NR1H4 Crohn Disease C06 Disease or Syndrome CTD_human
NR1H4 Extravasation of Contrast Media C23;C26 Pathologic Function CTD_human
NR1H4 Extravasation of Diagnostic and Therapeutic Materials C23;C26 Injury or Poisoning CTD_human
NR1H4 Fatty Liver C06 Disease or Syndrome CTD_human
NR1H4 Hepatitis, Toxic C06;C25 Injury or Poisoning CTD_human
NR1H4 Hepatomegaly C06;C23 Finding CTD_human
NR1H4 Inflammation C23 Pathologic Function CTD_human
NR1H4 Intestinal Neoplasms C04;C06 Neoplastic Process CTD_human
NR1H4 Liver diseases C06 Disease or Syndrome CTD_human
NR1H4 Liver neoplasms C04;C06 Neoplastic Process CTD_human
NR1H4 Liver Dysfunction C06 Finding CTD_human
NR1H4 Crohn's disease of large bowel C06 Disease or Syndrome CTD_human
NR1H4 Crohn's disease of the ileum C06 Disease or Syndrome CTD_human
NR1H4 Cholestasis of pregnancy C06;C13 Disease or Syndrome ORPHANET
NR1H4 Malignant neoplasm of liver C04;C06 Neoplastic Process CTD_human
NR1H4 Intestinal Cancer C04;C06 Neoplastic Process CTD_human
NR1H4 Non-alcoholic Fatty Liver Disease C06 Disease or Syndrome CTD_human
NR1H4 Regional enteritis C06 Disease or Syndrome CTD_human
NR1H4 Drug-Induced Liver Disease C06;C25 Disease or Syndrome CTD_human
NR1H4 IIeocolitis C06 Disease or Syndrome CTD_human
NR1H4 Cholestasis in newborn Disease or Syndrome GENOMICS_ENGLAND
NR1H4 Hepatitis, Drug-Induced C06;C25 Disease or Syndrome CTD_human
NR1H4 Liver carcinoma C04;C06 Neoplastic Process CTD_human
NR1H4 Steatohepatitis C06 Disease or Syndrome CTD_human
NR1H4 Nonalcoholic Steatohepatitis C06 Disease or Syndrome CTD_human
NR1H4 Familial intrahepatic cholestasis of pregnancy C06;C13 Disease or Syndrome ORPHANET
NR1H4 Drug-Induced Acute Liver Injury C06;C25 Disease or Syndrome CTD_human
NR1H4 Chemical and Drug Induced Liver Injury C06;C25 Disease or Syndrome CTD_human
NR1H4 Chemically-Induced Liver Toxicity C06;C25 Disease or Syndrome CTD_human
NR1H4 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 Disease or Syndrome CTD_human;ORPHANET

Pathway associated with NR1H4
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0000664 Endogenous sterols reactome 22 41
pathway0001534 Nuclear Receptor transcription pathway reactome 51 284
pathway0001815 Recycling of bile acids and salts reactome 15 37
pathway0001947 RXR and RAR heterodimerization with other nuclear receptor pid 26 164
pathway0002153 Synthesis of bile acids and bile salts reactome 7 17
pathway0002155 Synthesis of bile acids and bile salts via 27-hydroxycholesterol reactome 15 38
pathway0002156 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol reactome 24 87
pathway0002685 Hs_Drug_Induction_of_Bile_Acid_Pathway_WP2289_88593 wikipathways 9 12

Go term information of NR1H4
GO_term_name GO_term_type TF_name
GO_ACYLGLYCEROL_HOMEOSTASIS BP NR1H4
GO_NEGATIVE_REGULATION_OF_GENE_EXPRESSION BP NR1H4
GO_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION BP NR1H4
GO_CELLULAR_RESPONSE_TO_LIPID BP NR1H4
GO_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION BP NR1H4
GO_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS BP NR1H4
GO_POSITIVE_REGULATION_OF_CELLULAR_AMINE_METABOLIC_PROCESS BP NR1H4
GO_HISTONE_METHYLATION BP NR1H4
GO_NEGATIVE_REGULATION_OF_STEROID_METABOLIC_PROCESS BP NR1H4
GO_REGULATION_OF_HORMONE_LEVELS BP NR1H4
GO_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS BP NR1H4
GO_REGULATION_OF_INNATE_IMMUNE_RESPONSE BP NR1H4
GO_PEPTIDYL_ARGININE_MODIFICATION BP NR1H4
GO_REGULATION_OF_LIPID_METABOLIC_PROCESS BP NR1H4
GO_NEGATIVE_REGULATION_OF_INTERFERON_GAMMA_PRODUCTION BP NR1H4
GO_NEGATIVE_REGULATION_OF_PROTEIN_SECRETION BP NR1H4
GO_REGULATION_OF_CELLULAR_KETONE_METABOLIC_PROCESS BP NR1H4
GO_COVALENT_CHROMATIN_MODIFICATION BP NR1H4
GO_NOTCH_SIGNALING_PATHWAY BP NR1H4
GO_BILE_ACID_AND_BILE_SALT_TRANSPORT BP NR1H4
GO_TOLL_LIKE_RECEPTOR_4_SIGNALING_PATHWAY BP NR1H4
GO_TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER BP NR1H4
GO_REGULATION_OF_INSULIN_SECRETION_INVOLVED_IN_CELLULAR_RESPONSE_TO_GLUCOSE_STIMULUS BP NR1H4
GO_NEGATIVE_REGULATION_OF_CYTOKINE_SECRETION BP NR1H4
GO_CELLULAR_RESPONSE_TO_NUTRIENT BP NR1H4
GO_NEGATIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_SIGNALING BP NR1H4
GO_CYTOKINE_SECRETION BP NR1H4
GO_CELLULAR_RESPONSE_TO_FATTY_ACID BP NR1H4
GO_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY BP NR1H4
GO_REGULATION_OF_STEROID_BIOSYNTHETIC_PROCESS BP NR1H4
GO_REGULATION_OF_CHOLESTEROL_METABOLIC_PROCESS BP NR1H4
GO_REGULATION_OF_INTERFERON_GAMMA_SECRETION BP NR1H4
GO_REGULATION_OF_LIPOPROTEIN_PARTICLE_CLEARANCE BP NR1H4
GO_PEPTIDYL_ARGININE_METHYLATION BP NR1H4
GO_BILE_ACID_METABOLIC_PROCESS BP NR1H4
GO_NEGATIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION BP NR1H4
GO_NUCLEAR_EUCHROMATIN CC NR1H4
GO_EUCHROMATIN CC NR1H4
GO_ENHANCER_BINDING MF NR1H4
GO_TRANSCRIPTION_FACTOR_ACTIVITY_DIRECT_LIGAND_REGULATED_SEQUENCE_SPECIFIC_DNA_BINDING MF NR1H4
GO_STEROID_HORMONE_RECEPTOR_ACTIVITY MF NR1H4
GO_LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_BINDING MF NR1H4
GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_CORE_PROMOTER_PROXIMAL_REGION_SEQUENCE_SPECIFIC_BINDING MF NR1H4
GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING MF NR1H4
GO_RETINOIC_ACID_RECEPTOR_BINDING MF NR1H4
GO_RETINOID_X_RECEPTOR_BINDING MF NR1H4
GO_MONOCARBOXYLIC_ACID_BINDING MF NR1H4

Survival analysis of NR1H4



Calculate the hazards ratio based on Cox PH Model.
Add the 95% CI as dotted line.

Expression of NR1H4