GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
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:0009150111 | Esophagus | ESCC | purine ribonucleotide metabolic process | 213/8552 | 368/18723 | 1.40e-06 | 1.69e-05 | 213 |
GO:0046390110 | Esophagus | ESCC | ribose phosphate biosynthetic process | 119/8552 | 190/18723 | 1.73e-06 | 2.06e-05 | 119 |
GO:00442725 | Esophagus | ESCC | sulfur compound biosynthetic process | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:0006163111 | Esophagus | ESCC | purine nucleotide metabolic process | 226/8552 | 396/18723 | 2.81e-06 | 3.21e-05 | 226 |
GO:00193958 | Esophagus | ESCC | fatty acid oxidation | 69/8552 | 103/18723 | 9.95e-06 | 9.44e-05 | 69 |
GO:000916516 | Esophagus | ESCC | nucleotide biosynthetic process | 150/8552 | 254/18723 | 1.12e-05 | 1.06e-04 | 150 |
GO:0009260110 | Esophagus | ESCC | ribonucleotide biosynthetic process | 112/8552 | 182/18723 | 1.12e-05 | 1.06e-04 | 112 |
GO:190129316 | Esophagus | ESCC | nucleoside phosphate biosynthetic process | 151/8552 | 256/18723 | 1.15e-05 | 1.08e-04 | 151 |
GO:00338664 | Esophagus | ESCC | nucleoside bisphosphate biosynthetic process | 44/8552 | 60/18723 | 1.25e-05 | 1.15e-04 | 44 |
GO:00340304 | Esophagus | ESCC | ribonucleoside bisphosphate biosynthetic process | 44/8552 | 60/18723 | 1.25e-05 | 1.15e-04 | 44 |
GO:00340334 | Esophagus | ESCC | purine nucleoside bisphosphate biosynthetic process | 44/8552 | 60/18723 | 1.25e-05 | 1.15e-04 | 44 |
GO:00344407 | Esophagus | ESCC | lipid oxidation | 71/8552 | 108/18723 | 2.00e-05 | 1.74e-04 | 71 |
GO:007252217 | Esophagus | ESCC | purine-containing compound biosynthetic process | 120/8552 | 200/18723 | 3.02e-05 | 2.51e-04 | 120 |
GO:00090628 | Esophagus | ESCC | fatty acid catabolic process | 66/8552 | 100/18723 | 3.21e-05 | 2.66e-04 | 66 |
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 |
GCDH | SNV | Missense_Mutation | | c.773N>T | p.Ala258Val | p.A258V | Q92947 | protein_coding | deleterious_low_confidence(0) | benign(0.442) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GCDH | SNV | Missense_Mutation | | c.233G>C | p.Arg78Thr | p.R78T | Q92947 | protein_coding | deleterious_low_confidence(0.01) | benign(0.093) | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
GCDH | insertion | Nonsense_Mutation | novel | c.616_617insCTTAGCTGGGCAGGGCCCTGTTCTCTATTGTCCTGCTT | p.Leu206ProfsTer2 | p.L206Pfs*2 | Q92947 | protein_coding | | | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GCDH | SNV | Missense_Mutation | rs759176685 | c.1009G>T | p.Ala337Ser | p.A337S | Q92947 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.985) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GCDH | SNV | Missense_Mutation | | c.1171N>A | p.Gly391Arg | p.G391R | Q92947 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GCDH | SNV | Missense_Mutation | rs201509112 | c.1210N>A | p.Ala404Thr | p.A404T | Q92947 | protein_coding | deleterious_low_confidence(0.02) | benign(0.025) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GCDH | SNV | Missense_Mutation | | c.1060G>T | p.Gly354Cys | p.G354C | Q92947 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
GCDH | SNV | Missense_Mutation | novel | c.739N>T | p.Ala247Ser | p.A247S | Q92947 | protein_coding | deleterious_low_confidence(0.03) | benign(0.167) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GCDH | SNV | Missense_Mutation | rs748275416 | c.1064N>A | p.Arg355His | p.R355H | Q92947 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.733) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
GCDH | SNV | Missense_Mutation | | c.1174N>G | p.Asn392Asp | p.N392D | Q92947 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |