GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006163 | Colorectum | AD | purine nucleotide metabolic process | 149/3918 | 396/18723 | 1.08e-14 | 2.80e-12 | 149 |
GO:0072521 | Colorectum | AD | purine-containing compound metabolic process | 153/3918 | 416/18723 | 4.34e-14 | 1.01e-11 | 153 |
GO:0009117 | Colorectum | AD | nucleotide metabolic process | 168/3918 | 489/18723 | 2.20e-12 | 3.36e-10 | 168 |
GO:0006753 | Colorectum | AD | nucleoside phosphate metabolic process | 169/3918 | 497/18723 | 4.99e-12 | 6.98e-10 | 169 |
GO:0009409 | Colorectum | AD | response to cold | 22/3918 | 49/18723 | 1.40e-04 | 1.98e-03 | 22 |
GO:00061631 | Colorectum | SER | purine nucleotide metabolic process | 109/2897 | 396/18723 | 4.26e-10 | 5.44e-08 | 109 |
GO:00725211 | Colorectum | SER | purine-containing compound metabolic process | 113/2897 | 416/18723 | 4.80e-10 | 5.68e-08 | 113 |
GO:00091171 | Colorectum | SER | nucleotide metabolic process | 122/2897 | 489/18723 | 2.50e-08 | 1.76e-06 | 122 |
GO:00067531 | Colorectum | SER | nucleoside phosphate metabolic process | 122/2897 | 497/18723 | 6.64e-08 | 4.33e-06 | 122 |
GO:00094091 | Colorectum | SER | response to cold | 16/2897 | 49/18723 | 2.11e-03 | 2.06e-02 | 16 |
GO:00061632 | Colorectum | MSS | purine nucleotide metabolic process | 128/3467 | 396/18723 | 2.04e-11 | 3.02e-09 | 128 |
GO:00725212 | Colorectum | MSS | purine-containing compound metabolic process | 132/3467 | 416/18723 | 4.13e-11 | 4.86e-09 | 132 |
GO:00091172 | Colorectum | MSS | nucleotide metabolic process | 144/3467 | 489/18723 | 1.87e-09 | 1.35e-07 | 144 |
GO:00067532 | Colorectum | MSS | nucleoside phosphate metabolic process | 145/3467 | 497/18723 | 3.25e-09 | 2.23e-07 | 145 |
GO:00094092 | Colorectum | MSS | response to cold | 19/3467 | 49/18723 | 7.20e-04 | 7.70e-03 | 19 |
GO:00091173 | Colorectum | MSI-H | nucleotide metabolic process | 53/1319 | 489/18723 | 1.16e-03 | 1.92e-02 | 53 |
GO:0006144 | Colorectum | MSI-H | purine nucleobase metabolic process | 6/1319 | 19/18723 | 1.48e-03 | 2.23e-02 | 6 |
GO:00067533 | Colorectum | MSI-H | nucleoside phosphate metabolic process | 53/1319 | 497/18723 | 1.66e-03 | 2.45e-02 | 53 |
GO:00061633 | Colorectum | MSI-H | purine nucleotide metabolic process | 44/1319 | 396/18723 | 1.81e-03 | 2.61e-02 | 44 |
GO:00725213 | Colorectum | MSI-H | purine-containing compound metabolic process | 45/1319 | 416/18723 | 2.73e-03 | 3.53e-02 | 45 |
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 |
GMPR | SNV | Missense_Mutation | novel | c.632N>T | p.Gly211Val | p.G211V | P36959 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GMPR | SNV | Missense_Mutation | rs752563524 | c.604N>A | p.Val202Ile | p.V202I | P36959 | protein_coding | tolerated(0.49) | probably_damaging(0.936) | TCGA-A5-A0GX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GMPR | SNV | Missense_Mutation | novel | c.65N>A | p.Ser22Asn | p.S22N | P36959 | protein_coding | deleterious(0.02) | benign(0.281) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
GMPR | SNV | Missense_Mutation | rs757224478 | c.101N>A | p.Arg34His | p.R34H | P36959 | protein_coding | deleterious(0.02) | benign(0.325) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GMPR | SNV | Missense_Mutation | rs757224478 | c.101G>A | p.Arg34His | p.R34H | P36959 | protein_coding | deleterious(0.02) | benign(0.325) | TCGA-AJ-A23O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GMPR | SNV | Missense_Mutation | rs138267551 | c.110N>T | p.Thr37Met | p.T37M | P36959 | protein_coding | deleterious(0.01) | possibly_damaging(0.673) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
GMPR | SNV | Missense_Mutation | novel | c.498N>T | p.Glu166Asp | p.E166D | P36959 | protein_coding | deleterious(0.01) | probably_damaging(0.965) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GMPR | SNV | Missense_Mutation | novel | c.965N>T | p.Ala322Val | p.A322V | P36959 | protein_coding | deleterious(0.05) | benign(0.022) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GMPR | SNV | Missense_Mutation | rs372790288 | c.116G>A | p.Arg39Gln | p.R39Q | P36959 | protein_coding | tolerated(0.08) | benign(0.21) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GMPR | SNV | Missense_Mutation | rs372790288 | c.116G>A | p.Arg39Gln | p.R39Q | P36959 | protein_coding | tolerated(0.08) | benign(0.21) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |