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: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:007252217 | Esophagus | ESCC | purine-containing compound biosynthetic process | 120/8552 | 200/18723 | 3.02e-05 | 2.51e-04 | 120 |
GO:0009152110 | Esophagus | ESCC | purine ribonucleotide biosynthetic process | 103/8552 | 169/18723 | 4.40e-05 | 3.51e-04 | 103 |
GO:000616417 | Esophagus | ESCC | purine nucleotide biosynthetic process | 113/8552 | 191/18723 | 1.16e-04 | 8.04e-04 | 113 |
GO:00353844 | Esophagus | ESCC | thioester biosynthetic process | 32/8552 | 45/18723 | 4.87e-04 | 2.70e-03 | 32 |
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 |
PDHX | SNV | Missense_Mutation | novel | c.1328N>A | p.Gly443Glu | p.G443E | O00330 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A1NE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
PDHX | insertion | Nonsense_Mutation | novel | c.757_758insGCTAAATATGTAATATTAGCATAACTAATATTAGCTATTAGCATAA | p.Pro253ArgfsTer2 | p.P253Rfs*2 | O00330 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PDHX | insertion | Nonsense_Mutation | novel | c.1396_1397insAAACTAAAAAACACTAGATTGACCAGAATGGA | p.Leu466GlnfsTer6 | p.L466Qfs*6 | O00330 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PDHX | deletion | Frame_Shift_Del | novel | c.297delN | p.Val100LeufsTer3 | p.V100Lfs*3 | O00330 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PDHX | SNV | Missense_Mutation | novel | c.548N>T | p.Arg183Leu | p.R183L | O00330 | protein_coding | tolerated(0.07) | possibly_damaging(0.708) | TCGA-EA-A4BA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PDHX | SNV | Missense_Mutation | | c.992N>G | p.Phe331Cys | p.F331C | O00330 | protein_coding | deleterious(0.03) | possibly_damaging(0.617) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PDHX | SNV | Missense_Mutation | | c.713N>T | p.Thr238Ile | p.T238I | O00330 | protein_coding | tolerated(0.07) | benign(0.047) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PDHX | SNV | Missense_Mutation | novel | c.1357N>A | p.Glu453Lys | p.E453K | O00330 | protein_coding | tolerated(0.08) | benign(0.297) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PDHX | SNV | Missense_Mutation | | c.1427G>A | p.Arg476Gln | p.R476Q | O00330 | protein_coding | deleterious(0.02) | probably_damaging(0.978) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PDHX | SNV | Missense_Mutation | rs371811647 | c.1279N>A | p.Glu427Lys | p.E427K | O00330 | protein_coding | tolerated(0.07) | benign(0.206) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |