GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00343682 | Liver | NAFLD | protein-lipid complex remodeling | 12/1882 | 30/18723 | 1.58e-05 | 4.56e-04 | 12 |
GO:00343692 | Liver | NAFLD | plasma lipoprotein particle remodeling | 12/1882 | 30/18723 | 1.58e-05 | 4.56e-04 | 12 |
GO:00464863 | Liver | NAFLD | glycerolipid metabolic process | 66/1882 | 392/18723 | 1.94e-05 | 5.52e-04 | 66 |
GO:00075844 | Liver | NAFLD | response to nutrient | 36/1882 | 174/18723 | 2.06e-05 | 5.78e-04 | 36 |
GO:00343672 | Liver | NAFLD | protein-containing complex remodeling | 12/1882 | 32/18723 | 3.40e-05 | 8.80e-04 | 12 |
GO:0019627 | Liver | NAFLD | urea metabolic process | 7/1882 | 12/18723 | 5.15e-05 | 1.19e-03 | 7 |
GO:0071941 | Liver | NAFLD | nitrogen cycle metabolic process | 7/1882 | 12/18723 | 5.15e-05 | 1.19e-03 | 7 |
GO:00066943 | Liver | NAFLD | steroid biosynthetic process | 34/1882 | 173/18723 | 1.01e-04 | 2.02e-03 | 34 |
GO:00097437 | Liver | NAFLD | response to carbohydrate | 45/1882 | 253/18723 | 1.07e-04 | 2.11e-03 | 45 |
GO:00165713 | Liver | NAFLD | histone methylation | 29/1882 | 141/18723 | 1.40e-04 | 2.63e-03 | 29 |
GO:00425936 | Liver | NAFLD | glucose homeostasis | 45/1882 | 258/18723 | 1.71e-04 | 3.08e-03 | 45 |
GO:00436483 | Liver | NAFLD | dicarboxylic acid metabolic process | 22/1882 | 96/18723 | 1.73e-04 | 3.08e-03 | 22 |
GO:00335006 | Liver | NAFLD | carbohydrate homeostasis | 45/1882 | 259/18723 | 1.87e-04 | 3.29e-03 | 45 |
GO:00192183 | Liver | NAFLD | regulation of steroid metabolic process | 22/1882 | 100/18723 | 3.22e-04 | 4.98e-03 | 22 |
GO:00450174 | Liver | NAFLD | glycerolipid biosynthetic process | 43/1882 | 252/18723 | 3.83e-04 | 5.73e-03 | 43 |
GO:00468903 | Liver | NAFLD | regulation of lipid biosynthetic process | 32/1882 | 171/18723 | 4.03e-04 | 5.99e-03 | 32 |
GO:00705425 | Liver | NAFLD | response to fatty acid | 16/1882 | 64/18723 | 4.61e-04 | 6.74e-03 | 16 |
GO:00064793 | Liver | NAFLD | protein methylation | 33/1882 | 181/18723 | 5.36e-04 | 7.35e-03 | 33 |
GO:00082133 | Liver | NAFLD | protein alkylation | 33/1882 | 181/18723 | 5.36e-04 | 7.35e-03 | 33 |
GO:0034370 | Liver | NAFLD | triglyceride-rich lipoprotein particle remodeling | 6/1882 | 12/18723 | 5.54e-04 | 7.46e-03 | 6 |
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 | | |