GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
GO:0046034111 | Esophagus | ESCC | ATP metabolic process | 189/8552 | 277/18723 | 1.99e-14 | 1.04e-12 | 189 |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0019693111 | Esophagus | ESCC | ribose phosphate metabolic process | 234/8552 | 396/18723 | 4.24e-08 | 7.76e-07 | 234 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:0002262111 | Esophagus | ESCC | myeloid cell homeostasis | 104/8552 | 157/18723 | 1.49e-07 | 2.36e-06 | 104 |
GO:0034101111 | Esophagus | ESCC | erythrocyte homeostasis | 88/8552 | 129/18723 | 1.81e-07 | 2.84e-06 | 88 |
GO:0009259111 | Esophagus | ESCC | ribonucleotide metabolic process | 224/8552 | 385/18723 | 4.41e-07 | 6.00e-06 | 224 |
GO:0072521111 | Esophagus | ESCC | purine-containing compound metabolic process | 238/8552 | 416/18723 | 1.20e-06 | 1.49e-05 | 238 |
GO:0048872111 | Esophagus | ESCC | homeostasis of number of cells | 163/8552 | 272/18723 | 1.40e-06 | 1.69e-05 | 163 |
GO:0009150111 | Esophagus | ESCC | purine ribonucleotide metabolic process | 213/8552 | 368/18723 | 1.40e-06 | 1.69e-05 | 213 |
GO:0030218111 | Esophagus | ESCC | erythrocyte differentiation | 80/8552 | 120/18723 | 2.69e-06 | 3.08e-05 | 80 |
GO:0006163111 | Esophagus | ESCC | purine nucleotide metabolic process | 226/8552 | 396/18723 | 2.81e-06 | 3.21e-05 | 226 |
GO:000913219 | Esophagus | ESCC | nucleoside diphosphate metabolic process | 77/8552 | 124/18723 | 1.65e-04 | 1.09e-03 | 77 |
GO:000918520 | Esophagus | ESCC | ribonucleoside diphosphate metabolic process | 66/8552 | 106/18723 | 4.21e-04 | 2.39e-03 | 66 |
GO:001605216 | Esophagus | ESCC | carbohydrate catabolic process | 91/8552 | 154/18723 | 5.39e-04 | 2.97e-03 | 91 |
GO:000913520 | Esophagus | ESCC | purine nucleoside diphosphate metabolic process | 63/8552 | 103/18723 | 1.10e-03 | 5.52e-03 | 63 |
GO:000917920 | Esophagus | ESCC | purine ribonucleoside diphosphate metabolic process | 63/8552 | 103/18723 | 1.10e-03 | 5.52e-03 | 63 |
GO:19011362 | Esophagus | ESCC | carbohydrate derivative catabolic process | 99/8552 | 172/18723 | 1.11e-03 | 5.54e-03 | 99 |
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 |
BPGM | SNV | Missense_Mutation | novel | c.376A>G | p.Ile126Val | p.I126V | P07738 | protein_coding | tolerated(0.11) | benign(0.039) | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
BPGM | SNV | Missense_Mutation | novel | c.566N>A | p.Gly189Glu | p.G189E | P07738 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EW-A1PC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
BPGM | SNV | Missense_Mutation | novel | c.220N>G | p.Leu74Val | p.L74V | P07738 | protein_coding | tolerated(0.06) | benign(0.111) | TCGA-VS-A9V1-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
BPGM | SNV | Missense_Mutation | | c.57N>T | p.Glu19Asp | p.E19D | P07738 | protein_coding | tolerated(0.06) | benign(0.007) | TCGA-EI-7002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | irinotecan+5-fluorouracilim | SD |
BPGM | SNV | Missense_Mutation | rs757985056 | c.62G>A | p.Arg21His | p.R21H | P07738 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPGM | SNV | Missense_Mutation | novel | c.116G>A | p.Arg39Gln | p.R39Q | P07738 | protein_coding | tolerated(0.56) | benign(0) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
BPGM | SNV | Missense_Mutation | novel | c.335N>C | p.Val112Ala | p.V112A | P07738 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A0GG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPGM | SNV | Missense_Mutation | rs771037885 | c.140C>T | p.Ala47Val | p.A47V | P07738 | protein_coding | deleterious(0.01) | benign(0.083) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BPGM | SNV | Missense_Mutation | novel | c.461G>A | p.Arg154Gln | p.R154Q | P07738 | protein_coding | tolerated(0.58) | benign(0.003) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BPGM | SNV | Missense_Mutation | rs746836937 | c.257N>A | p.Arg86His | p.R86H | P07738 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |