GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00305222 | Colorectum | MSS | intracellular receptor signaling pathway | 84/3467 | 265/18723 | 1.47e-07 | 6.79e-06 | 84 |
GO:00097432 | Colorectum | MSS | response to carbohydrate | 77/3467 | 253/18723 | 2.75e-06 | 8.25e-05 | 77 |
GO:00342842 | Colorectum | MSS | response to monosaccharide | 70/3467 | 225/18723 | 3.27e-06 | 9.57e-05 | 70 |
GO:00713222 | Colorectum | MSS | cellular response to carbohydrate stimulus | 53/3467 | 163/18723 | 1.23e-05 | 2.87e-04 | 53 |
GO:00316672 | Colorectum | MSS | response to nutrient levels | 125/3467 | 474/18723 | 1.24e-05 | 2.88e-04 | 125 |
GO:00335002 | Colorectum | MSS | carbohydrate homeostasis | 76/3467 | 259/18723 | 1.37e-05 | 3.14e-04 | 76 |
GO:00507082 | Colorectum | MSS | regulation of protein secretion | 78/3467 | 268/18723 | 1.47e-05 | 3.33e-04 | 78 |
GO:00097462 | Colorectum | MSS | response to hexose | 66/3467 | 219/18723 | 1.94e-05 | 4.18e-04 | 66 |
GO:00425932 | Colorectum | MSS | glucose homeostasis | 75/3467 | 258/18723 | 2.22e-05 | 4.69e-04 | 75 |
GO:00097492 | Colorectum | MSS | response to glucose | 64/3467 | 212/18723 | 2.43e-05 | 5.09e-04 | 64 |
GO:00093062 | Colorectum | MSS | protein secretion | 98/3467 | 359/18723 | 2.43e-05 | 5.09e-04 | 98 |
GO:00713332 | Colorectum | MSS | cellular response to glucose stimulus | 49/3467 | 151/18723 | 2.73e-05 | 5.58e-04 | 49 |
GO:00355922 | Colorectum | MSS | establishment of protein localization to extracellular region | 98/3467 | 360/18723 | 2.75e-05 | 5.58e-04 | 98 |
GO:00016782 | Colorectum | MSS | cellular glucose homeostasis | 54/3467 | 172/18723 | 3.11e-05 | 6.25e-04 | 54 |
GO:00713312 | Colorectum | MSS | cellular response to hexose stimulus | 49/3467 | 153/18723 | 4.01e-05 | 7.61e-04 | 49 |
GO:00716922 | Colorectum | MSS | protein localization to extracellular region | 99/3467 | 368/18723 | 4.17e-05 | 7.83e-04 | 99 |
GO:00713262 | Colorectum | MSS | cellular response to monosaccharide stimulus | 49/3467 | 154/18723 | 4.84e-05 | 8.80e-04 | 49 |
GO:00431221 | Colorectum | MSS | regulation of I-kappaB kinase/NF-kappaB signaling | 71/3467 | 249/18723 | 7.12e-05 | 1.21e-03 | 71 |
GO:00072491 | Colorectum | MSS | I-kappaB kinase/NF-kappaB signaling | 77/3467 | 281/18723 | 1.51e-04 | 2.19e-03 | 77 |
GO:00507962 | Colorectum | MSS | regulation of insulin secretion | 50/3467 | 165/18723 | 1.61e-04 | 2.31e-03 | 50 |
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 | | |