GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001056511 | Liver | Cirrhotic | regulation of cellular ketone metabolic process | 49/4634 | 133/18723 | 1.25e-03 | 8.41e-03 | 49 |
GO:00713316 | Liver | Cirrhotic | cellular response to hexose stimulus | 55/4634 | 153/18723 | 1.27e-03 | 8.56e-03 | 55 |
GO:003350012 | Liver | Cirrhotic | carbohydrate homeostasis | 86/4634 | 259/18723 | 1.28e-03 | 8.61e-03 | 86 |
GO:00713266 | Liver | Cirrhotic | cellular response to monosaccharide stimulus | 55/4634 | 154/18723 | 1.51e-03 | 9.91e-03 | 55 |
GO:00082061 | Liver | Cirrhotic | bile acid metabolic process | 22/4634 | 49/18723 | 1.64e-03 | 1.05e-02 | 22 |
GO:00343671 | Liver | Cirrhotic | protein-containing complex remodeling | 16/4634 | 32/18723 | 1.77e-03 | 1.13e-02 | 16 |
GO:00713226 | Liver | Cirrhotic | cellular response to carbohydrate stimulus | 57/4634 | 163/18723 | 2.18e-03 | 1.34e-02 | 57 |
GO:00718251 | Liver | Cirrhotic | protein-lipid complex subunit organization | 22/4634 | 50/18723 | 2.26e-03 | 1.37e-02 | 22 |
GO:00196271 | Liver | Cirrhotic | urea metabolic process | 8/4634 | 12/18723 | 2.59e-03 | 1.53e-02 | 8 |
GO:00719411 | Liver | Cirrhotic | nitrogen cycle metabolic process | 8/4634 | 12/18723 | 2.59e-03 | 1.53e-02 | 8 |
GO:0050810 | Liver | Cirrhotic | regulation of steroid biosynthetic process | 28/4634 | 69/18723 | 2.70e-03 | 1.58e-02 | 28 |
GO:00066991 | Liver | Cirrhotic | bile acid biosynthetic process | 17/4634 | 36/18723 | 2.82e-03 | 1.63e-02 | 17 |
GO:0009308 | Liver | Cirrhotic | amine metabolic process | 43/4634 | 118/18723 | 3.03e-03 | 1.72e-02 | 43 |
GO:00064791 | Liver | Cirrhotic | protein methylation | 61/4634 | 181/18723 | 4.13e-03 | 2.21e-02 | 61 |
GO:00082131 | Liver | Cirrhotic | protein alkylation | 61/4634 | 181/18723 | 4.13e-03 | 2.21e-02 | 61 |
GO:00718271 | Liver | Cirrhotic | plasma lipoprotein particle organization | 20/4634 | 46/18723 | 4.15e-03 | 2.22e-02 | 20 |
GO:00165711 | Liver | Cirrhotic | histone methylation | 49/4634 | 141/18723 | 4.90e-03 | 2.56e-02 | 49 |
GO:0043124 | Liver | Cirrhotic | negative regulation of I-kappaB kinase/NF-kappaB signaling | 21/4634 | 51/18723 | 7.18e-03 | 3.44e-02 | 21 |
GO:00550901 | Liver | Cirrhotic | acylglycerol homeostasis | 18/4634 | 42/18723 | 7.64e-03 | 3.61e-02 | 18 |
GO:00703281 | Liver | Cirrhotic | triglyceride homeostasis | 18/4634 | 42/18723 | 7.64e-03 | 3.61e-02 | 18 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
NR1H4 | SNV | Missense_Mutation | | c.691N>C | p.Asp231His | p.D231H | Q96RI1 | protein_coding | tolerated(0.07) | benign(0.017) | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NR1H4 | SNV | Missense_Mutation | rs760756841 | c.1373N>G | p.Asn458Ser | p.N458S | Q96RI1 | protein_coding | tolerated(0.33) | benign(0.037) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
NR1H4 | SNV | Missense_Mutation | novel | c.888N>T | p.Glu296Asp | p.E296D | Q96RI1 | protein_coding | tolerated(0.48) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NR1H4 | SNV | Missense_Mutation | | c.1117G>A | p.Asp373Asn | p.D373N | Q96RI1 | protein_coding | deleterious(0.01) | benign(0.087) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NR1H4 | SNV | Missense_Mutation | rs768234999 | c.1064N>T | p.Pro355Leu | p.P355L | Q96RI1 | protein_coding | tolerated(0.12) | benign(0.037) | TCGA-LD-A7W5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
NR1H4 | insertion | Frame_Shift_Ins | novel | c.568_569insTTAGAAAACAAATTCACATTTTTCCT | p.Gln190LeufsTer14 | p.Q190Lfs*14 | Q96RI1 | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NR1H4 | SNV | Missense_Mutation | rs769086612 | c.367N>T | p.Arg123Cys | p.R123C | Q96RI1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-C5-A1BK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NR1H4 | SNV | Missense_Mutation | rs767846303 | c.595G>C | p.Glu199Gln | p.E199Q | Q96RI1 | protein_coding | tolerated(0.14) | benign(0.034) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
NR1H4 | SNV | Missense_Mutation | | c.1414N>T | p.Asp472Tyr | p.D472Y | Q96RI1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
NR1H4 | SNV | Missense_Mutation | | c.1256N>C | p.Glu419Ala | p.E419A | Q96RI1 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | PENTACHLOROPHENOL | PENTACHLOROPHENOL | |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | agonist | 354702202 | TROPIFEXOR | |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | LITHOCHOLIC ACID | LITHOCHOLIC ACID | 17963371 |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | agonist | 404859091 | CILOFEXOR | |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | PMID29649907-Compound-12 | | |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | 12-EPISCALARIN | CHEMBL269105 | 17988093 |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | GANODERIOL F | GANODERIOL F | 22014750 |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | BENZO(K)FLUORANTHENE | BENZO(K)FLUORANTHENE | |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | PMID29649907-Compound-11 | | |
9971 | NR1H4 | DRUGGABLE GENOME, NUCLEAR HORMONE RECEPTOR, KINASE, TRANSCRIPTION FACTOR | | PMID29649907-Compound-8 | | |