GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00463953 | Liver | NAFLD | carboxylic acid catabolic process | 73/1882 | 236/18723 | 4.16e-19 | 1.22e-15 | 73 |
GO:00160544 | Liver | NAFLD | organic acid catabolic process | 73/1882 | 240/18723 | 1.20e-18 | 2.34e-15 | 73 |
GO:00442825 | Liver | NAFLD | small molecule catabolic process | 91/1882 | 376/18723 | 8.96e-16 | 1.31e-12 | 91 |
GO:00723295 | Liver | NAFLD | monocarboxylic acid catabolic process | 39/1882 | 122/18723 | 2.40e-11 | 8.77e-09 | 39 |
GO:00082023 | Liver | NAFLD | steroid metabolic process | 69/1882 | 319/18723 | 5.90e-10 | 1.28e-07 | 69 |
GO:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:0008206 | Liver | NAFLD | bile acid metabolic process | 19/1882 | 49/18723 | 9.82e-08 | 7.76e-06 | 19 |
GO:00160426 | Liver | NAFLD | lipid catabolic process | 63/1882 | 320/18723 | 1.35e-07 | 1.02e-05 | 63 |
GO:00092596 | Liver | NAFLD | ribonucleotide metabolic process | 72/1882 | 385/18723 | 1.51e-07 | 1.09e-05 | 72 |
GO:00196936 | Liver | NAFLD | ribose phosphate metabolic process | 73/1882 | 396/18723 | 2.23e-07 | 1.53e-05 | 73 |
GO:00091177 | Liver | NAFLD | nucleotide metabolic process | 85/1882 | 489/18723 | 3.31e-07 | 2.18e-05 | 85 |
GO:00067537 | Liver | NAFLD | nucleoside phosphate metabolic process | 85/1882 | 497/18723 | 6.69e-07 | 3.83e-05 | 85 |
GO:00725217 | Liver | NAFLD | purine-containing compound metabolic process | 74/1882 | 416/18723 | 7.73e-07 | 4.27e-05 | 74 |
GO:00091507 | Liver | NAFLD | purine ribonucleotide metabolic process | 67/1882 | 368/18723 | 1.10e-06 | 5.44e-05 | 67 |
GO:00061637 | Liver | NAFLD | purine nucleotide metabolic process | 70/1882 | 396/18723 | 1.93e-06 | 8.23e-05 | 70 |
GO:0008203 | Liver | NAFLD | cholesterol metabolic process | 32/1882 | 137/18723 | 4.28e-06 | 1.66e-04 | 32 |
GO:0016125 | Liver | NAFLD | sterol metabolic process | 34/1882 | 152/18723 | 6.02e-06 | 2.11e-04 | 34 |
GO:1902652 | Liver | NAFLD | secondary alcohol metabolic process | 33/1882 | 147/18723 | 7.57e-06 | 2.56e-04 | 33 |
GO:00060666 | Liver | NAFLD | alcohol metabolic process | 62/1882 | 353/18723 | 9.01e-06 | 2.96e-04 | 62 |
GO:00067904 | Liver | NAFLD | sulfur compound metabolic process | 58/1882 | 339/18723 | 3.79e-05 | 9.38e-04 | 58 |
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 |
SULT2A1 | SNV | Missense_Mutation | rs368067020 | c.442N>A | p.Glu148Lys | p.E148K | Q06520 | protein_coding | tolerated(0.07) | benign(0.084) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
SULT2A1 | insertion | Nonsense_Mutation | novel | c.355_356insATTAGAGAGAGCCACCAATGCCTCTAATTCAGTACA | p.Leu119delinsHisTerArgGluProProMetProLeuIleGlnTyrIle | p.L119delinsH*REPPMPLIQYI | Q06520 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SULT2A1 | SNV | Missense_Mutation | | c.762N>T | p.Trp254Cys | p.W254C | Q06520 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SULT2A1 | SNV | Missense_Mutation | | c.323C>A | p.Ser108Tyr | p.S108Y | Q06520 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SULT2A1 | SNV | Missense_Mutation | novel | c.413A>C | p.Lys138Thr | p.K138T | Q06520 | protein_coding | tolerated(0.34) | benign(0.019) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SULT2A1 | SNV | Missense_Mutation | novel | c.423N>T | p.Lys141Asn | p.K141N | Q06520 | protein_coding | deleterious(0) | probably_damaging(0.943) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SULT2A1 | SNV | Missense_Mutation | novel | c.830T>G | p.Leu277Arg | p.L277R | Q06520 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SULT2A1 | SNV | Missense_Mutation | rs567166520 | c.269N>T | p.Thr90Met | p.T90M | Q06520 | protein_coding | tolerated(0.23) | benign(0) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SULT2A1 | SNV | Missense_Mutation | novel | c.5C>T | p.Ser2Leu | p.S2L | Q06520 | protein_coding | deleterious(0.03) | benign(0.14) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
SULT2A1 | SNV | Missense_Mutation | rs567166520 | c.269N>T | p.Thr90Met | p.T90M | Q06520 | protein_coding | tolerated(0.23) | benign(0) | TCGA-B5-A0K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | PD |