GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000941013 | Breast | IDC | response to xenobiotic stimulus | 62/1434 | 462/18723 | 1.05e-05 | 2.88e-04 | 62 |
GO:000941023 | Breast | DCIS | response to xenobiotic stimulus | 59/1390 | 462/18723 | 3.00e-05 | 6.61e-04 | 59 |
GO:003367410 | Cervix | CC | positive regulation of kinase activity | 101/2311 | 467/18723 | 8.66e-09 | 7.22e-07 | 101 |
GO:00458608 | Cervix | CC | positive regulation of protein kinase activity | 85/2311 | 386/18723 | 5.61e-08 | 3.29e-06 | 85 |
GO:00447725 | Cervix | CC | mitotic cell cycle phase transition | 89/2311 | 424/18723 | 2.70e-07 | 1.12e-05 | 89 |
GO:00719007 | Cervix | CC | regulation of protein serine/threonine kinase activity | 75/2311 | 359/18723 | 2.76e-06 | 8.02e-05 | 75 |
GO:00457876 | Cervix | CC | positive regulation of cell cycle | 66/2311 | 313/18723 | 7.78e-06 | 1.81e-04 | 66 |
GO:00000824 | Cervix | CC | G1/S transition of mitotic cell cycle | 49/2311 | 214/18723 | 1.16e-05 | 2.48e-04 | 49 |
GO:00448434 | Cervix | CC | cell cycle G1/S phase transition | 53/2311 | 241/18723 | 1.76e-05 | 3.32e-04 | 53 |
GO:00719025 | Cervix | CC | positive regulation of protein serine/threonine kinase activity | 46/2311 | 200/18723 | 1.87e-05 | 3.47e-04 | 46 |
GO:00106399 | Cervix | CC | negative regulation of organelle organization | 68/2311 | 348/18723 | 7.40e-05 | 1.03e-03 | 68 |
GO:0033002 | Cervix | CC | muscle cell proliferation | 49/2311 | 248/18723 | 5.43e-04 | 5.24e-03 | 49 |
GO:001003810 | Cervix | CC | response to metal ion | 67/2311 | 373/18723 | 9.67e-04 | 8.10e-03 | 67 |
GO:00515926 | Cervix | CC | response to calcium ion | 31/2311 | 149/18723 | 2.31e-03 | 1.65e-02 | 31 |
GO:00323923 | Cervix | CC | DNA geometric change | 21/2311 | 90/18723 | 2.71e-03 | 1.85e-02 | 21 |
GO:00486593 | Cervix | CC | smooth muscle cell proliferation | 36/2311 | 184/18723 | 3.27e-03 | 2.13e-02 | 36 |
GO:00486603 | Cervix | CC | regulation of smooth muscle cell proliferation | 35/2311 | 180/18723 | 4.10e-03 | 2.54e-02 | 35 |
GO:00486612 | Cervix | CC | positive regulation of smooth muscle cell proliferation | 22/2311 | 104/18723 | 7.59e-03 | 4.04e-02 | 22 |
GO:0010639 | Colorectum | AD | negative regulation of organelle organization | 114/3918 | 348/18723 | 1.41e-07 | 6.49e-06 | 114 |
GO:0033674 | Colorectum | AD | positive regulation of kinase activity | 131/3918 | 467/18723 | 1.28e-04 | 1.85e-03 | 131 |
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 |
NAT1 | SNV | Missense_Mutation | | c.655N>A | p.Gly219Arg | p.G219R | | protein_coding | deleterious(0.02) | possibly_damaging(0.887) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
NAT1 | insertion | Frame_Shift_Ins | rs746311173 | c.486dupA | p.Tyr163IlefsTer15 | p.Y163Ifs*15 | | protein_coding | | | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NAT1 | insertion | In_Frame_Ins | novel | c.1043_1044insGCCTCTCTC | p.Arg348_Phe349insProLeuSer | p.R348_F349insPLS | | protein_coding | | | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
NAT1 | SNV | Missense_Mutation | novel | c.37N>A | p.Glu13Lys | p.E13K | | protein_coding | | possibly_damaging(0.502) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NAT1 | SNV | Missense_Mutation | | c.1014G>C | p.Gln338His | p.Q338H | | protein_coding | tolerated(0.07) | possibly_damaging(0.477) | TCGA-EK-A2RC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NAT1 | SNV | Missense_Mutation | novel | c.689N>C | p.Gln230Pro | p.Q230P | | protein_coding | tolerated(0.18) | benign(0.057) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NAT1 | SNV | Missense_Mutation | rs138061602 | c.377G>A | p.Arg126Gln | p.R126Q | | protein_coding | deleterious(0.02) | possibly_damaging(0.903) | TCGA-A5-A0GB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NAT1 | SNV | Missense_Mutation | novel | c.689A>G | p.Gln230Arg | p.Q230R | | protein_coding | tolerated(0.08) | benign(0.057) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NAT1 | SNV | Missense_Mutation | | c.974N>G | p.Ile325Arg | p.I325R | | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
NAT1 | SNV | Missense_Mutation | novel | c.473N>A | p.Thr158Asn | p.T158N | | protein_coding | tolerated(0.2) | benign(0.005) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |