GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0022900 | Colorectum | AD | electron transport chain | 89/3918 | 175/18723 | 1.42e-18 | 8.91e-16 | 89 |
GO:0044270 | Colorectum | AD | cellular nitrogen compound catabolic process | 147/3918 | 451/18723 | 3.35e-09 | 2.23e-07 | 147 |
GO:0006575 | Colorectum | AD | cellular modified amino acid metabolic process | 59/3918 | 188/18723 | 4.80e-04 | 5.27e-03 | 59 |
GO:00060911 | Colorectum | SER | generation of precursor metabolites and energy | 168/2897 | 490/18723 | 1.39e-25 | 1.70e-22 | 168 |
GO:00229001 | Colorectum | SER | electron transport chain | 77/2897 | 175/18723 | 1.77e-19 | 1.36e-16 | 77 |
GO:00442701 | Colorectum | SER | cellular nitrogen compound catabolic process | 99/2897 | 451/18723 | 1.46e-04 | 2.86e-03 | 99 |
GO:00060912 | Colorectum | MSS | generation of precursor metabolites and energy | 186/3467 | 490/18723 | 1.14e-24 | 2.15e-21 | 186 |
GO:00229002 | Colorectum | MSS | electron transport chain | 83/3467 | 175/18723 | 2.06e-18 | 1.17e-15 | 83 |
GO:00442702 | Colorectum | MSS | cellular nitrogen compound catabolic process | 141/3467 | 451/18723 | 2.95e-11 | 3.83e-09 | 141 |
GO:00065751 | Colorectum | MSS | cellular modified amino acid metabolic process | 55/3467 | 188/18723 | 2.16e-04 | 3.01e-03 | 55 |
GO:00060914 | Colorectum | FAP | generation of precursor metabolites and energy | 128/2622 | 490/18723 | 5.58e-13 | 4.28e-10 | 128 |
GO:00229004 | Colorectum | FAP | electron transport chain | 51/2622 | 175/18723 | 1.44e-07 | 9.03e-06 | 51 |
GO:00442704 | Colorectum | FAP | cellular nitrogen compound catabolic process | 101/2622 | 451/18723 | 7.42e-07 | 3.44e-05 | 101 |
GO:00442707 | Liver | NAFLD | cellular nitrogen compound catabolic process | 93/1882 | 451/18723 | 1.04e-11 | 4.34e-09 | 93 |
GO:00060917 | Liver | NAFLD | generation of precursor metabolites and energy | 84/1882 | 490/18723 | 7.03e-07 | 3.95e-05 | 84 |
GO:0009310 | Liver | NAFLD | amine catabolic process | 9/1882 | 29/18723 | 1.59e-03 | 1.71e-02 | 9 |
GO:0042402 | Liver | NAFLD | cellular biogenic amine catabolic process | 8/1882 | 27/18723 | 3.97e-03 | 3.34e-02 | 8 |
GO:00065754 | Liver | NAFLD | cellular modified amino acid metabolic process | 31/1882 | 188/18723 | 3.98e-03 | 3.34e-02 | 31 |
GO:00229007 | Liver | NAFLD | electron transport chain | 29/1882 | 175/18723 | 4.87e-03 | 3.84e-02 | 29 |
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 |
DMGDH | SNV | Missense_Mutation | novel | c.563N>T | p.Pro188Leu | p.P188L | Q9UI17 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | rs113405129 | c.2155C>T | p.Arg719Cys | p.R719C | Q9UI17 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
DMGDH | SNV | Missense_Mutation | rs369589026 | c.2078N>T | p.Ala693Val | p.A693V | Q9UI17 | protein_coding | tolerated(0.13) | benign(0.067) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
DMGDH | SNV | Missense_Mutation | novel | c.2294N>T | p.Ala765Val | p.A765V | Q9UI17 | protein_coding | tolerated(0.26) | benign(0.195) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
DMGDH | SNV | Missense_Mutation | novel | c.1636N>T | p.Asp546Tyr | p.D546Y | Q9UI17 | protein_coding | deleterious(0.01) | possibly_damaging(0.886) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
DMGDH | SNV | Missense_Mutation | | c.2129N>G | p.Phe710Cys | p.F710C | Q9UI17 | protein_coding | deleterious(0) | benign(0.03) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | rs768086517 | c.1384C>T | p.Arg462Trp | p.R462W | Q9UI17 | protein_coding | deleterious(0) | benign(0.104) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | novel | c.387C>A | p.Phe129Leu | p.F129L | Q9UI17 | protein_coding | tolerated(0.22) | benign(0.06) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | rs536965932 | c.2551N>A | p.Glu851Lys | p.E851K | Q9UI17 | protein_coding | tolerated(0.06) | benign(0.025) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | novel | c.1418G>A | p.Gly473Glu | p.G473E | Q9UI17 | protein_coding | tolerated(0.06) | possibly_damaging(0.84) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |