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.754N>G | p.Asn252Asp | p.N252D | Q8WYK0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A3F9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | novel | c.634N>A | p.Val212Met | p.V212M | Q8WYK0 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | novel | c.796N>A | p.Glu266Lys | p.E266K | Q8WYK0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
ACOT12 | SNV | Missense_Mutation | rs766228561 | c.965G>A | p.Arg322Gln | p.R322Q | Q8WYK0 | protein_coding | tolerated(0.06) | possibly_damaging(0.666) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | rs576654714 | c.1214N>A | p.Arg405His | p.R405H | Q8WYK0 | protein_coding | tolerated(0.56) | benign(0) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | | c.539G>A | p.Gly180Asp | p.G180D | Q8WYK0 | protein_coding | tolerated(0.59) | benign(0.001) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | novel | c.742A>G | p.Thr248Ala | p.T248A | Q8WYK0 | protein_coding | deleterious(0.02) | benign(0.045) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ACOT12 | SNV | Missense_Mutation | rs564306951 | c.1213N>T | p.Arg405Cys | p.R405C | Q8WYK0 | protein_coding | tolerated(0.18) | benign(0) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | novel | c.1153C>A | p.His385Asn | p.H385N | Q8WYK0 | protein_coding | tolerated(0.45) | benign(0) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ACOT12 | SNV | Missense_Mutation | rs576654714 | c.1214N>A | p.Arg405His | p.R405H | Q8WYK0 | protein_coding | tolerated(0.56) | benign(0) | TCGA-EO-A3B1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |