GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0044270 | Colorectum | AD | cellular nitrogen compound catabolic process | 147/3918 | 451/18723 | 3.35e-09 | 2.23e-07 | 147 |
GO:0046700 | Colorectum | AD | heterocycle catabolic process | 145/3918 | 445/18723 | 4.37e-09 | 2.84e-07 | 145 |
GO:0019439 | Colorectum | AD | aromatic compound catabolic process | 146/3918 | 467/18723 | 7.48e-08 | 3.84e-06 | 146 |
GO:1901361 | Colorectum | AD | organic cyclic compound catabolic process | 153/3918 | 495/18723 | 8.23e-08 | 4.18e-06 | 153 |
GO:0044282 | Colorectum | AD | small molecule catabolic process | 118/3918 | 376/18723 | 1.05e-06 | 3.55e-05 | 118 |
GO:0016054 | Colorectum | AD | organic acid catabolic process | 73/3918 | 240/18723 | 3.20e-04 | 3.81e-03 | 73 |
GO:0006575 | Colorectum | AD | cellular modified amino acid metabolic process | 59/3918 | 188/18723 | 4.80e-04 | 5.27e-03 | 59 |
GO:0006730 | Colorectum | AD | one-carbon metabolic process | 18/3918 | 40/18723 | 5.36e-04 | 5.74e-03 | 18 |
GO:0043648 | Colorectum | AD | dicarboxylic acid metabolic process | 34/3918 | 96/18723 | 7.22e-04 | 7.28e-03 | 34 |
GO:0046395 | Colorectum | AD | carboxylic acid catabolic process | 70/3918 | 236/18723 | 9.06e-04 | 8.71e-03 | 70 |
GO:00442821 | Colorectum | SER | small molecule catabolic process | 87/2897 | 376/18723 | 5.31e-05 | 1.27e-03 | 87 |
GO:00442701 | Colorectum | SER | cellular nitrogen compound catabolic process | 99/2897 | 451/18723 | 1.46e-04 | 2.86e-03 | 99 |
GO:00467001 | Colorectum | SER | heterocycle catabolic process | 97/2897 | 445/18723 | 2.20e-04 | 3.89e-03 | 97 |
GO:19013611 | Colorectum | SER | organic cyclic compound catabolic process | 104/2897 | 495/18723 | 5.46e-04 | 7.63e-03 | 104 |
GO:00067301 | Colorectum | SER | one-carbon metabolic process | 15/2897 | 40/18723 | 5.71e-04 | 7.86e-03 | 15 |
GO:00194391 | Colorectum | SER | aromatic compound catabolic process | 98/2897 | 467/18723 | 8.09e-04 | 1.01e-02 | 98 |
GO:00160541 | Colorectum | SER | organic acid catabolic process | 53/2897 | 240/18723 | 4.04e-03 | 3.30e-02 | 53 |
GO:00463953 | Liver | NAFLD | carboxylic acid catabolic process | 73/1882 | 236/18723 | 4.16e-19 | 1.22e-15 | 73 |
GO:00160544 | Liver | NAFLD | organic acid catabolic process | 73/1882 | 240/18723 | 1.20e-18 | 2.34e-15 | 73 |
GO:00442825 | Liver | NAFLD | small molecule catabolic process | 91/1882 | 376/18723 | 8.96e-16 | 1.31e-12 | 91 |
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 |
ALDH1L1 | SNV | Missense_Mutation | rs752044328 | c.103N>A | p.Glu35Lys | p.E35K | O75891 | protein_coding | tolerated_low_confidence(0.41) | benign(0.012) | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
ALDH1L1 | SNV | Missense_Mutation | novel | c.2215N>A | p.Glu739Lys | p.E739K | O75891 | protein_coding | tolerated(0.15) | benign(0.018) | TCGA-AC-A5EH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ALDH1L1 | SNV | Missense_Mutation | novel | c.1492C>G | p.Leu498Val | p.L498V | O75891 | protein_coding | deleterious(0.02) | benign(0.013) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ALDH1L1 | SNV | Missense_Mutation | | c.228N>C | p.Leu76Phe | p.L76F | O75891 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.949) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ALDH1L1 | SNV | Missense_Mutation | | c.2296G>T | p.Val766Leu | p.V766L | O75891 | protein_coding | deleterious(0.03) | benign(0) | TCGA-E2-A14T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ALDH1L1 | insertion | Frame_Shift_Ins | novel | c.1350_1351insTTTGG | p.Thr451PhefsTer50 | p.T451Ffs*50 | O75891 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
ALDH1L1 | insertion | Nonsense_Mutation | novel | c.1348_1349insGGAAAATTTG | p.Glu450GlyfsTer4 | p.E450Gfs*4 | O75891 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
ALDH1L1 | deletion | Frame_Shift_Del | novel | c.2344delN | p.Leu782TrpfsTer29 | p.L782Wfs*29 | O75891 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ALDH1L1 | SNV | Missense_Mutation | rs758569749 | c.1483C>T | p.Arg495Trp | p.R495W | O75891 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ALDH1L1 | SNV | Missense_Mutation | | c.335N>A | p.Ser112Tyr | p.S112Y | O75891 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-EA-A3QE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |