GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
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:00067904 | Liver | NAFLD | sulfur compound metabolic process | 58/1882 | 339/18723 | 3.79e-05 | 9.38e-04 | 58 |
GO:00338653 | Liver | NAFLD | nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00338753 | Liver | NAFLD | ribonucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00340323 | Liver | NAFLD | purine nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:0006637 | Liver | NAFLD | acyl-CoA metabolic process | 21/1882 | 96/18723 | 4.72e-04 | 6.74e-03 | 21 |
GO:0035383 | Liver | NAFLD | thioester metabolic process | 21/1882 | 96/18723 | 4.72e-04 | 6.74e-03 | 21 |
GO:000663112 | Liver | Cirrhotic | fatty acid metabolic process | 165/4634 | 390/18723 | 1.29e-14 | 1.26e-12 | 165 |
GO:000675312 | Liver | Cirrhotic | nucleoside phosphate metabolic process | 190/4634 | 497/18723 | 1.10e-11 | 6.96e-10 | 190 |
GO:000911712 | Liver | Cirrhotic | nucleotide metabolic process | 187/4634 | 489/18723 | 1.55e-11 | 9.63e-10 | 187 |
GO:001969312 | Liver | Cirrhotic | ribose phosphate metabolic process | 156/4634 | 396/18723 | 5.83e-11 | 3.23e-09 | 156 |
GO:000925912 | Liver | Cirrhotic | ribonucleotide metabolic process | 151/4634 | 385/18723 | 1.72e-10 | 8.70e-09 | 151 |
GO:007252112 | Liver | Cirrhotic | purine-containing compound metabolic process | 156/4634 | 416/18723 | 3.74e-09 | 1.52e-07 | 156 |
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 |
ACOT12 | SNV | Missense_Mutation | novel | c.1322N>A | p.Pro441His | p.P441H | Q8WYK0 | protein_coding | deleterious(0) | probably_damaging(0.958) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | rs564306951 | c.1213N>T | p.Arg405Cys | p.R405C | Q8WYK0 | protein_coding | tolerated(0.18) | benign(0) | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | rs200358101 | c.823N>A | p.Glu275Lys | p.E275K | Q8WYK0 | protein_coding | tolerated(0.64) | benign(0.003) | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | | c.620N>T | p.Ala207Val | p.A207V | Q8WYK0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ACOT12 | insertion | Nonsense_Mutation | novel | c.533_534insTCTCTATAAATAAGTAAGTAAATAAATAAAG | p.Arg179LeufsTer4 | p.R179Lfs*4 | Q8WYK0 | protein_coding | | | TCGA-B5-A0K0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | rs765632918 | c.1337N>G | p.Asp446Gly | p.D446G | Q8WYK0 | protein_coding | tolerated(0.33) | benign(0.006) | TCGA-DD-A4NE-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | III/IV | Targeted Molecular therapy | sorafenib | PD |
ACOT12 | SNV | Missense_Mutation | | c.1663T>G | p.Phe555Val | p.F555V | Q8WYK0 | protein_coding | deleterious_low_confidence(0.01) | benign(0.007) | TCGA-DD-A73A-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | rs533220517 | c.940N>G | p.Tyr314Asp | p.Y314D | Q8WYK0 | protein_coding | deleterious(0) | possibly_damaging(0.899) | TCGA-MI-A75I-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
ACOT12 | SNV | Missense_Mutation | | c.386N>C | p.Leu129Pro | p.L129P | Q8WYK0 | protein_coding | tolerated(0.2) | benign(0.098) | TCGA-05-4382-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ACOT12 | SNV | Missense_Mutation | rs576654714 | c.1214G>A | p.Arg405His | p.R405H | Q8WYK0 | protein_coding | tolerated(0.56) | benign(0) | TCGA-49-4514-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |