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.728G>T | p.Arg243Ile | p.R243I | Q9UI17 | protein_coding | tolerated(0.1) | benign(0.05) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
DMGDH | SNV | Missense_Mutation | novel | c.724N>C | p.Asn242His | p.N242H | Q9UI17 | protein_coding | tolerated(0.07) | benign(0.033) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | novel | c.1919N>A | p.Val640Asp | p.V640D | Q9UI17 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | novel | c.1353N>A | p.Phe451Leu | p.F451L | Q9UI17 | protein_coding | tolerated(0.64) | benign(0) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | | c.275N>T | p.Ala92Val | p.A92V | Q9UI17 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | novel | c.1328C>T | p.Ala443Val | p.A443V | Q9UI17 | protein_coding | tolerated(0.13) | benign(0.014) | TCGA-FI-A2F4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMGDH | insertion | Frame_Shift_Ins | novel | c.2081_2082insATTAGGGGATTCTCTAGCTACAACTGGGGACTCTCTTGAACTAAATTTC | p.Tyr695LeufsTer18 | p.Y695Lfs*18 | Q9UI17 | protein_coding | | | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMGDH | insertion | Frame_Shift_Ins | novel | c.718_719insATCTG | p.Arg240AsnfsTer8 | p.R240Nfs*8 | Q9UI17 | protein_coding | | | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DMGDH | insertion | Frame_Shift_Ins | novel | c.718_719insAAAATAAACATAATTTGGAAAAACACAATCTG | p.Arg240LysfsTer17 | p.R240Kfs*17 | Q9UI17 | protein_coding | | | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMGDH | SNV | Missense_Mutation | novel | c.2156N>A | p.Arg719His | p.R719H | Q9UI17 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-DD-AADV-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |