GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00550883 | Liver | NAFLD | lipid homeostasis | 44/1882 | 167/18723 | 1.48e-09 | 2.54e-07 | 44 |
GO:0055090 | Liver | NAFLD | acylglycerol homeostasis | 17/1882 | 42/18723 | 2.22e-07 | 1.53e-05 | 17 |
GO:0070328 | Liver | NAFLD | triglyceride homeostasis | 17/1882 | 42/18723 | 2.22e-07 | 1.53e-05 | 17 |
GO:00059965 | Liver | NAFLD | monosaccharide metabolic process | 53/1882 | 257/18723 | 2.89e-07 | 1.92e-05 | 53 |
GO:00620125 | Liver | NAFLD | regulation of small molecule metabolic process | 63/1882 | 334/18723 | 6.55e-07 | 3.79e-05 | 63 |
GO:00193185 | Liver | NAFLD | hexose metabolic process | 49/1882 | 237/18723 | 7.41e-07 | 4.12e-05 | 49 |
GO:00442623 | Liver | NAFLD | cellular carbohydrate metabolic process | 55/1882 | 283/18723 | 1.27e-06 | 6.01e-05 | 55 |
GO:00060065 | Liver | NAFLD | glucose metabolic process | 42/1882 | 196/18723 | 1.70e-06 | 7.47e-05 | 42 |
GO:00423267 | Liver | NAFLD | negative regulation of phosphorylation | 67/1882 | 385/18723 | 5.49e-06 | 1.98e-04 | 67 |
GO:00061093 | Liver | NAFLD | regulation of carbohydrate metabolic process | 38/1882 | 178/18723 | 5.71e-06 | 2.04e-04 | 38 |
GO:00459367 | Liver | NAFLD | negative regulation of phosphate metabolic process | 73/1882 | 441/18723 | 1.31e-05 | 3.93e-04 | 73 |
GO:00105637 | Liver | NAFLD | negative regulation of phosphorus metabolic process | 73/1882 | 442/18723 | 1.42e-05 | 4.17e-04 | 73 |
GO:00513487 | Liver | NAFLD | negative regulation of transferase activity | 49/1882 | 268/18723 | 2.61e-05 | 7.03e-04 | 49 |
GO:00106753 | Liver | NAFLD | regulation of cellular carbohydrate metabolic process | 31/1882 | 146/18723 | 4.47e-05 | 1.08e-03 | 31 |
GO:00097437 | Liver | NAFLD | response to carbohydrate | 45/1882 | 253/18723 | 1.07e-04 | 2.11e-03 | 45 |
GO:00109063 | Liver | NAFLD | regulation of glucose metabolic process | 26/1882 | 119/18723 | 1.09e-04 | 2.13e-03 | 26 |
GO:00069137 | Liver | NAFLD | nucleocytoplasmic transport | 51/1882 | 301/18723 | 1.39e-04 | 2.62e-03 | 51 |
GO:00511697 | Liver | NAFLD | nuclear transport | 51/1882 | 301/18723 | 1.39e-04 | 2.62e-03 | 51 |
GO:00425936 | Liver | NAFLD | glucose homeostasis | 45/1882 | 258/18723 | 1.71e-04 | 3.08e-03 | 45 |
GO:00335006 | Liver | NAFLD | carbohydrate homeostasis | 45/1882 | 259/18723 | 1.87e-04 | 3.29e-03 | 45 |
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 |
GCKR | SNV | Missense_Mutation | rs779171513 | c.1823N>T | p.Pro608Leu | p.P608L | | protein_coding | tolerated_low_confidence(0.08) | benign(0.041) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
GCKR | insertion | Frame_Shift_Ins | novel | c.186_187insATTGAGAACCTGGGTGTGAGTCCCAATTTGTCCAGCTGTGT | p.Glu63IlefsTer32 | p.E63Ifs*32 | | protein_coding | | | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
GCKR | insertion | Frame_Shift_Ins | novel | c.597_598insTCTCCGTTTCAAACGCACAAGCA | p.Val200SerfsTer20 | p.V200Sfs*20 | | protein_coding | | | TCGA-BH-A0B3-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
GCKR | deletion | Frame_Shift_Del | novel | c.1068delN | p.Phe357SerfsTer37 | p.F357Sfs*37 | | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
GCKR | SNV | Missense_Mutation | | c.661N>C | p.Asp221His | p.D221H | | protein_coding | deleterious(0.03) | possibly_damaging(0.906) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
GCKR | SNV | Missense_Mutation | | c.1399G>C | p.Glu467Gln | p.E467Q | | protein_coding | tolerated(0.07) | possibly_damaging(0.682) | TCGA-R2-A69V-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
GCKR | SNV | Missense_Mutation | rs374489109 | c.748G>A | p.Gly250Arg | p.G250R | | protein_coding | deleterious(0.02) | benign(0.216) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
GCKR | SNV | Missense_Mutation | rs761397252 | c.1720G>A | p.Ala574Thr | p.A574T | | protein_coding | deleterious(0) | possibly_damaging(0.793) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
GCKR | SNV | Missense_Mutation | rs146168012 | c.776N>A | p.Arg259Gln | p.R259Q | | protein_coding | tolerated(0.17) | benign(0.013) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
GCKR | SNV | Missense_Mutation | rs761397252 | c.1720N>A | p.Ala574Thr | p.A574T | | protein_coding | deleterious(0) | possibly_damaging(0.793) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |