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:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:00316677 | Liver | NAFLD | response to nutrient levels | 85/1882 | 474/18723 | 8.23e-08 | 7.09e-06 | 85 |
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:00108765 | Liver | NAFLD | lipid localization | 79/1882 | 448/18723 | 4.75e-07 | 2.92e-05 | 79 |
GO:00303013 | Liver | NAFLD | cholesterol transport | 30/1882 | 117/18723 | 1.08e-06 | 5.40e-05 | 30 |
GO:00068694 | Liver | NAFLD | lipid transport | 71/1882 | 398/18723 | 1.16e-06 | 5.59e-05 | 71 |
GO:00159183 | Liver | NAFLD | sterol transport | 32/1882 | 130/18723 | 1.27e-06 | 6.01e-05 | 32 |
GO:00426323 | Liver | NAFLD | cholesterol homeostasis | 26/1882 | 96/18723 | 1.83e-06 | 7.86e-05 | 26 |
GO:00550923 | Liver | NAFLD | sterol homeostasis | 26/1882 | 97/18723 | 2.26e-06 | 9.51e-05 | 26 |
GO:0033344 | Liver | NAFLD | cholesterol efflux | 20/1882 | 69/18723 | 9.13e-06 | 2.98e-04 | 20 |
GO:00075844 | Liver | NAFLD | response to nutrient | 36/1882 | 174/18723 | 2.06e-05 | 5.78e-04 | 36 |
GO:0015850 | Liver | NAFLD | organic hydroxy compound transport | 50/1882 | 284/18723 | 6.01e-05 | 1.32e-03 | 50 |
GO:0032371 | Liver | NAFLD | regulation of sterol transport | 20/1882 | 78/18723 | 6.46e-05 | 1.39e-03 | 20 |
GO:0032374 | Liver | NAFLD | regulation of cholesterol transport | 20/1882 | 78/18723 | 6.46e-05 | 1.39e-03 | 20 |
GO:19044781 | Liver | NAFLD | regulation of intestinal absorption | 7/1882 | 13/18723 | 1.02e-04 | 2.02e-03 | 7 |
GO:0030300 | Liver | NAFLD | regulation of intestinal cholesterol absorption | 6/1882 | 10/18723 | 1.50e-04 | 2.78e-03 | 6 |
GO:1905952 | Liver | NAFLD | regulation of lipid localization | 34/1882 | 181/18723 | 2.51e-04 | 4.12e-03 | 34 |
GO:19047291 | Liver | NAFLD | regulation of intestinal lipid absorption | 6/1882 | 11/18723 | 3.03e-04 | 4.75e-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 |
ABCG5 | SNV | Missense_Mutation | | c.1078N>T | p.Asp360Tyr | p.D360Y | Q9H222 | protein_coding | deleterious(0) | possibly_damaging(0.707) | TCGA-D1-A16Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | novel | c.1010N>C | p.Lys337Thr | p.K337T | Q9H222 | protein_coding | tolerated(0.19) | benign(0.01) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | novel | c.1673C>A | p.Pro558His | p.P558H | Q9H222 | protein_coding | tolerated(0.07) | probably_damaging(0.946) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | novel | c.1020G>T | p.Lys340Asn | p.K340N | Q9H222 | protein_coding | tolerated(0.3) | benign(0.003) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | rs747481748 | c.1258G>A | p.Val420Ile | p.V420I | Q9H222 | protein_coding | tolerated(0.42) | benign(0.12) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | novel | c.1095C>A | p.Phe365Leu | p.F365L | Q9H222 | protein_coding | tolerated(1) | benign(0) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | rs201552973 | c.1312N>A | p.Ala438Thr | p.A438T | Q9H222 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | novel | c.440N>T | p.Thr147Met | p.T147M | Q9H222 | protein_coding | deleterious(0) | probably_damaging(0.949) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCG5 | SNV | Missense_Mutation | novel | c.1542A>C | p.Glu514Asp | p.E514D | Q9H222 | protein_coding | deleterious(0) | possibly_damaging(0.859) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
ABCG5 | SNV | Missense_Mutation | novel | c.1696A>G | p.Thr566Ala | p.T566A | Q9H222 | protein_coding | deleterious(0.03) | benign(0.103) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |