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: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: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:00338655 | Esophagus | ESCC | nucleoside bisphosphate metabolic process | 77/8552 | 128/18723 | 6.71e-04 | 3.55e-03 | 77 |
GO:00338755 | Esophagus | ESCC | ribonucleoside bisphosphate metabolic process | 77/8552 | 128/18723 | 6.71e-04 | 3.55e-03 | 77 |
GO:00340325 | Esophagus | ESCC | purine nucleoside bisphosphate metabolic process | 77/8552 | 128/18723 | 6.71e-04 | 3.55e-03 | 77 |
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 |
PPCDC | SNV | Missense_Mutation | rs373109290 | c.88N>C | p.Ala30Pro | p.A30P | Q96CD2 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AC-A3BB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
PPCDC | insertion | In_Frame_Ins | novel | c.311_312insCAGGAG | p.Asp104_Ala105insArgSer | p.D104_A105insRS | Q96CD2 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PPCDC | insertion | Frame_Shift_Ins | novel | c.312_313insTTGAGACCAGCTTG | p.Ala105LeufsTer40 | p.A105Lfs*40 | Q96CD2 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PPCDC | SNV | Missense_Mutation | | c.220G>A | p.Asp74Asn | p.D74N | Q96CD2 | protein_coding | deleterious(0.04) | possibly_damaging(0.483) | TCGA-DS-A0VM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
PPCDC | SNV | Missense_Mutation | rs746984037 | c.374G>A | p.Arg125Gln | p.R125Q | Q96CD2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PPCDC | SNV | Missense_Mutation | rs777408463 | c.373N>T | p.Arg125Trp | p.R125W | Q96CD2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A1C4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PPCDC | SNV | Missense_Mutation | novel | c.536N>A | p.Gly179Glu | p.G179E | Q96CD2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PPCDC | SNV | Missense_Mutation | rs758416402 | c.85G>A | p.Ala29Thr | p.A29T | Q96CD2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
PPCDC | SNV | Missense_Mutation | novel | c.67N>A | p.Gly23Ser | p.G23S | Q96CD2 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PPCDC | SNV | Missense_Mutation | novel | c.592N>T | p.His198Tyr | p.H198Y | Q96CD2 | protein_coding | tolerated(0.33) | benign(0.11) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |