GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
GO:004603422 | Liver | HCC | ATP metabolic process | 198/7958 | 277/18723 | 8.30e-23 | 1.55e-20 | 198 |
GO:000911722 | Liver | HCC | nucleotide metabolic process | 300/7958 | 489/18723 | 1.61e-17 | 1.71e-15 | 300 |
GO:000675322 | Liver | HCC | nucleoside phosphate metabolic process | 304/7958 | 497/18723 | 1.78e-17 | 1.85e-15 | 304 |
GO:001969322 | Liver | HCC | ribose phosphate metabolic process | 248/7958 | 396/18723 | 3.15e-16 | 2.70e-14 | 248 |
GO:000925922 | Liver | HCC | ribonucleotide metabolic process | 240/7958 | 385/18723 | 2.07e-15 | 1.51e-13 | 240 |
GO:000915022 | Liver | HCC | purine ribonucleotide metabolic process | 226/7958 | 368/18723 | 1.36e-13 | 7.69e-12 | 226 |
GO:007252122 | Liver | HCC | purine-containing compound metabolic process | 250/7958 | 416/18723 | 2.26e-13 | 1.24e-11 | 250 |
GO:000616322 | Liver | HCC | purine nucleotide metabolic process | 236/7958 | 396/18723 | 3.59e-12 | 1.62e-10 | 236 |
GO:004346722 | Liver | HCC | regulation of generation of precursor metabolites and energy | 89/7958 | 130/18723 | 1.84e-09 | 5.35e-08 | 89 |
GO:000609022 | Liver | HCC | pyruvate metabolic process | 73/7958 | 106/18723 | 3.52e-08 | 7.82e-07 | 73 |
GO:001605222 | Liver | HCC | carbohydrate catabolic process | 99/7958 | 154/18723 | 3.79e-08 | 8.30e-07 | 99 |
GO:006201222 | Liver | HCC | regulation of small molecule metabolic process | 190/7958 | 334/18723 | 6.77e-08 | 1.40e-06 | 190 |
GO:000918522 | Liver | HCC | ribonucleoside diphosphate metabolic process | 72/7958 | 106/18723 | 1.05e-07 | 2.03e-06 | 72 |
GO:004603122 | Liver | HCC | ADP metabolic process | 63/7958 | 90/18723 | 1.17e-07 | 2.25e-06 | 63 |
GO:000913522 | Liver | HCC | purine nucleoside diphosphate metabolic process | 70/7958 | 103/18723 | 1.52e-07 | 2.82e-06 | 70 |
GO:000917922 | Liver | HCC | purine ribonucleoside diphosphate metabolic process | 70/7958 | 103/18723 | 1.52e-07 | 2.82e-06 | 70 |
GO:000913222 | Liver | HCC | nucleoside diphosphate metabolic process | 81/7958 | 124/18723 | 2.34e-07 | 4.17e-06 | 81 |
GO:000610921 | Liver | HCC | regulation of carbohydrate metabolic process | 109/7958 | 178/18723 | 3.36e-07 | 5.78e-06 | 109 |
GO:004693922 | Liver | HCC | nucleotide phosphorylation | 68/7958 | 101/18723 | 3.95e-07 | 6.70e-06 | 68 |
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 |
SLC2A6 | SNV | Missense_Mutation | novel | c.310G>A | p.Asp104Asn | p.D104N | Q9UGQ3 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC2A6 | SNV | Missense_Mutation | novel | c.1519N>T | p.Arg507Cys | p.R507C | Q9UGQ3 | protein_coding | deleterious_low_confidence(0) | benign(0.333) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC2A6 | SNV | Missense_Mutation | novel | c.1258N>T | p.Leu420Phe | p.L420F | Q9UGQ3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SLC2A6 | SNV | Missense_Mutation | rs782337112 | c.847C>T | p.Arg283Cys | p.R283C | Q9UGQ3 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-EY-A5W2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC2A6 | SNV | Missense_Mutation | rs782263707 | c.1495N>T | p.Arg499Cys | p.R499C | Q9UGQ3 | protein_coding | deleterious(0) | possibly_damaging(0.886) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC2A6 | SNV | Missense_Mutation | novel | c.1229N>T | p.Ala410Val | p.A410V | Q9UGQ3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC2A6 | SNV | Missense_Mutation | novel | c.281N>T | p.Ala94Val | p.A94V | Q9UGQ3 | protein_coding | tolerated(0.11) | possibly_damaging(0.773) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
SLC2A6 | SNV | Missense_Mutation | novel | c.943N>T | p.Ala315Ser | p.A315S | Q9UGQ3 | protein_coding | tolerated(0.82) | probably_damaging(0.974) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC2A6 | insertion | Frame_Shift_Ins | novel | c.789_790insAGTATCG | p.Trp264SerfsTer5 | p.W264Sfs*5 | Q9UGQ3 | protein_coding | | | TCGA-EY-A1G7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SLC2A6 | SNV | Missense_Mutation | rs767052534 | c.1013N>T | p.Arg338Leu | p.R338L | Q9UGQ3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-DD-A11B-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |