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:0015980 | Colorectum | AD | energy derivation by oxidation of organic compounds | 143/3918 | 318/18723 | 2.78e-22 | 2.49e-19 | 143 |
GO:0022411 | Colorectum | AD | cellular component disassembly | 147/3918 | 443/18723 | 8.53e-10 | 6.76e-08 | 147 |
GO:0016236 | Colorectum | AD | macroautophagy | 103/3918 | 291/18723 | 6.76e-09 | 4.15e-07 | 103 |
GO:0032984 | Colorectum | AD | protein-containing complex disassembly | 81/3918 | 224/18723 | 9.41e-08 | 4.65e-06 | 81 |
GO:0016050 | Colorectum | AD | vesicle organization | 101/3918 | 300/18723 | 1.65e-07 | 7.17e-06 | 101 |
GO:0043467 | Colorectum | AD | regulation of generation of precursor metabolites and energy | 49/3918 | 130/18723 | 8.33e-06 | 1.99e-04 | 49 |
GO:0019318 | Colorectum | AD | hexose metabolic process | 77/3918 | 237/18723 | 1.96e-05 | 4.01e-04 | 77 |
GO:0044262 | Colorectum | AD | cellular carbohydrate metabolic process | 87/3918 | 283/18723 | 6.00e-05 | 1.01e-03 | 87 |
GO:0005996 | Colorectum | AD | monosaccharide metabolic process | 80/3918 | 257/18723 | 7.31e-05 | 1.17e-03 | 80 |
GO:0006006 | Colorectum | AD | glucose metabolic process | 62/3918 | 196/18723 | 2.76e-04 | 3.39e-03 | 62 |
GO:0006109 | Colorectum | AD | regulation of carbohydrate metabolic process | 55/3918 | 178/18723 | 1.10e-03 | 1.01e-02 | 55 |
GO:0062012 | Colorectum | AD | regulation of small molecule metabolic process | 93/3918 | 334/18723 | 1.46e-03 | 1.24e-02 | 93 |
GO:0048284 | Colorectum | AD | organelle fusion | 42/3918 | 141/18723 | 8.04e-03 | 4.73e-02 | 42 |
GO:00060912 | Colorectum | MSS | generation of precursor metabolites and energy | 186/3467 | 490/18723 | 1.14e-24 | 2.15e-21 | 186 |
GO:00159802 | Colorectum | MSS | energy derivation by oxidation of organic compounds | 131/3467 | 318/18723 | 2.60e-21 | 2.70e-18 | 131 |
GO:00224112 | Colorectum | MSS | cellular component disassembly | 130/3467 | 443/18723 | 1.44e-08 | 8.46e-07 | 130 |
GO:00162362 | Colorectum | MSS | macroautophagy | 93/3467 | 291/18723 | 2.08e-08 | 1.17e-06 | 93 |
GO:00160502 | Colorectum | MSS | vesicle organization | 93/3467 | 300/18723 | 1.04e-07 | 4.97e-06 | 93 |
GO:00434672 | Colorectum | MSS | regulation of generation of precursor metabolites and energy | 47/3467 | 130/18723 | 1.47e-06 | 4.85e-05 | 47 |
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 |
RUBCNL | SNV | Missense_Mutation | novel | c.106N>A | p.Asp36Asn | p.D36N | Q9H714 | protein_coding | tolerated(0.24) | benign(0.079) | TCGA-D1-A0ZP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
RUBCNL | SNV | Missense_Mutation | novel | c.928N>A | p.Leu310Ile | p.L310I | Q9H714 | protein_coding | deleterious(0.02) | probably_damaging(0.913) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
RUBCNL | SNV | Missense_Mutation | novel | c.679N>G | p.Asn227Asp | p.N227D | Q9H714 | protein_coding | tolerated(0.07) | benign(0.005) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
RUBCNL | SNV | Missense_Mutation | novel | c.934G>T | p.Asp312Tyr | p.D312Y | Q9H714 | protein_coding | deleterious(0) | benign(0.154) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RUBCNL | SNV | Missense_Mutation | novel | c.1467N>A | p.Phe489Leu | p.F489L | Q9H714 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
RUBCNL | SNV | Missense_Mutation | rs768684570 | c.1142N>A | p.Arg381Gln | p.R381Q | Q9H714 | protein_coding | tolerated(0.72) | benign(0.001) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
RUBCNL | SNV | Missense_Mutation | novel | c.1467C>A | p.Phe489Leu | p.F489L | Q9H714 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
RUBCNL | SNV | Missense_Mutation | novel | c.437C>A | p.Ser146Tyr | p.S146Y | Q9H714 | protein_coding | deleterious(0.03) | possibly_damaging(0.556) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RUBCNL | SNV | Missense_Mutation | novel | c.1572N>C | p.Glu524Asp | p.E524D | Q9H714 | protein_coding | tolerated(0.29) | benign(0.02) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
RUBCNL | SNV | Missense_Mutation | rs200810574 | c.1357N>A | p.Glu453Lys | p.E453K | Q9H714 | protein_coding | deleterious(0.01) | benign(0.384) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |