GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0031667111 | Esophagus | ESCC | response to nutrient levels | 289/8552 | 474/18723 | 9.25e-12 | 3.47e-10 | 289 |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:00442725 | Esophagus | ESCC | sulfur compound biosynthetic process | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:00091012 | Esophagus | ESCC | glycoprotein biosynthetic process | 181/8552 | 317/18723 | 2.54e-05 | 2.15e-04 | 181 |
GO:00603485 | Esophagus | ESCC | bone development | 115/8552 | 205/18723 | 1.67e-03 | 7.72e-03 | 115 |
GO:00487052 | Esophagus | ESCC | skeletal system morphogenesis | 120/8552 | 220/18723 | 4.90e-03 | 1.89e-02 | 120 |
GO:0006029 | Esophagus | ESCC | proteoglycan metabolic process | 48/8552 | 79/18723 | 4.93e-03 | 1.89e-02 | 48 |
GO:0030166 | Esophagus | ESCC | proteoglycan biosynthetic process | 35/8552 | 56/18723 | 8.30e-03 | 2.94e-02 | 35 |
GO:0006024 | Esophagus | ESCC | glycosaminoglycan biosynthetic process | 45/8552 | 75/18723 | 8.75e-03 | 3.08e-02 | 45 |
GO:0006023 | Esophagus | ESCC | aminoglycan biosynthetic process | 47/8552 | 79/18723 | 9.29e-03 | 3.23e-02 | 47 |
GO:00512161 | Esophagus | ESCC | cartilage development | 103/8552 | 190/18723 | 1.08e-02 | 3.67e-02 | 103 |
GO:00020623 | Esophagus | ESCC | chondrocyte differentiation | 60/8552 | 106/18723 | 1.53e-02 | 4.94e-02 | 60 |
GO:003166718 | Prostate | BPH | response to nutrient levels | 121/3107 | 474/18723 | 3.68e-07 | 7.70e-06 | 121 |
GO:00015039 | Prostate | BPH | ossification | 107/3107 | 408/18723 | 4.31e-07 | 8.83e-06 | 107 |
GO:00603483 | Prostate | BPH | bone development | 50/3107 | 205/18723 | 2.60e-03 | 1.39e-02 | 50 |
GO:00442723 | Prostate | BPH | sulfur compound biosynthetic process | 37/3107 | 148/18723 | 5.70e-03 | 2.65e-02 | 37 |
GO:00302782 | Prostate | BPH | regulation of ossification | 29/3107 | 115/18723 | 1.18e-02 | 4.76e-02 | 29 |
GO:003166719 | Prostate | Tumor | response to nutrient levels | 127/3246 | 474/18723 | 1.27e-07 | 3.28e-06 | 127 |
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 |
CHSY1 | SNV | Missense_Mutation | | c.1897G>C | p.Asp633His | p.D633H | Q86X52 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CHSY1 | SNV | Missense_Mutation | | c.1835N>A | p.Leu612Gln | p.L612Q | Q86X52 | protein_coding | tolerated(0.06) | probably_damaging(0.979) | TCGA-C8-A1HE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHSY1 | SNV | Missense_Mutation | rs761334027 | c.1939N>G | p.Asn647Asp | p.N647D | Q86X52 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CHSY1 | SNV | Missense_Mutation | novel | c.1819N>C | p.Glu607Gln | p.E607Q | Q86X52 | protein_coding | tolerated(0.18) | benign(0.038) | TCGA-E9-A1RH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | SD |
CHSY1 | SNV | Missense_Mutation | novel | c.835G>A | p.Glu279Lys | p.E279K | Q86X52 | protein_coding | tolerated(0.05) | benign(0.093) | TCGA-PE-A5DD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | CR |
CHSY1 | SNV | Missense_Mutation | novel | c.2188N>A | p.Ala730Thr | p.A730T | Q86X52 | protein_coding | deleterious(0.05) | benign(0.071) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHSY1 | SNV | Missense_Mutation | rs748806147 | c.673N>A | p.Val225Met | p.V225M | Q86X52 | protein_coding | tolerated(0.87) | benign(0.088) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHSY1 | SNV | Missense_Mutation | novel | c.473N>G | p.Asp158Gly | p.D158G | Q86X52 | protein_coding | deleterious(0) | probably_damaging(0.909) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHSY1 | SNV | Missense_Mutation | | c.869G>C | p.Arg290Thr | p.R290T | Q86X52 | protein_coding | tolerated(0.25) | benign(0.061) | TCGA-DS-A0VK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
CHSY1 | insertion | Frame_Shift_Ins | rs762321510 | c.666dupG | p.Pro223AlafsTer29 | p.P223Afs*29 | Q86X52 | protein_coding | | | TCGA-VS-A9U6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |