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.1414N>A | p.Pro472Thr | p.P472T | Q9H714 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A6VV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
RUBCNL | SNV | Missense_Mutation | rs200512455 | c.1829C>T | p.Thr610Met | p.T610M | Q9H714 | protein_coding | deleterious(0.01) | possibly_damaging(0.892) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RUBCNL | SNV | Missense_Mutation | | c.1675N>C | p.Glu559Gln | p.E559Q | Q9H714 | protein_coding | deleterious(0.02) | benign(0.217) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RUBCNL | SNV | Missense_Mutation | novel | c.1661N>A | p.Gly554Glu | p.G554E | Q9H714 | protein_coding | tolerated(0.88) | benign(0.021) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RUBCNL | insertion | Frame_Shift_Ins | novel | c.62_63insAAGCCAATATTTGATT | p.Asp21GlufsTer12 | p.D21Efs*12 | Q9H714 | protein_coding | | | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RUBCNL | deletion | Frame_Shift_Del | novel | c.129_139delNNNNNNNNNNN | p.Ile44GlufsTer8 | p.I44Efs*8 | Q9H714 | protein_coding | | | TCGA-BH-A0C0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
RUBCNL | deletion | Frame_Shift_Del | novel | c.129_139delCATCAGGCTCA | p.Ile44GlufsTer8 | p.I44Efs*8 | Q9H714 | protein_coding | | | TCGA-BH-A0E1-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RUBCNL | SNV | Missense_Mutation | novel | c.1683C>A | p.His561Gln | p.H561Q | Q9H714 | protein_coding | deleterious(0) | benign(0.403) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RUBCNL | SNV | Missense_Mutation | novel | c.980N>G | p.Ser327Cys | p.S327C | Q9H714 | protein_coding | tolerated(0.08) | possibly_damaging(0.628) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
RUBCNL | SNV | Missense_Mutation | | c.1596C>G | p.Ile532Met | p.I532M | Q9H714 | protein_coding | tolerated(0.12) | possibly_damaging(0.45) | TCGA-EK-A2H0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |