GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00330024 | Oral cavity | OSCC | muscle cell proliferation | 115/7305 | 248/18723 | 1.05e-02 | 3.58e-02 | 115 |
GO:0006040 | Oral cavity | OSCC | amino sugar metabolic process | 24/7305 | 42/18723 | 1.30e-02 | 4.34e-02 | 24 |
GO:0006047 | Oral cavity | OSCC | UDP-N-acetylglucosamine metabolic process | 10/7305 | 14/18723 | 1.44e-02 | 4.69e-02 | 10 |
GO:000188919 | Oral cavity | LP | liver development | 62/4623 | 147/18723 | 2.32e-06 | 5.14e-05 | 62 |
GO:0048732110 | Oral cavity | LP | gland development | 149/4623 | 436/18723 | 4.51e-06 | 9.17e-05 | 149 |
GO:006100819 | Oral cavity | LP | hepaticobiliary system development | 62/4623 | 150/18723 | 5.13e-06 | 1.03e-04 | 62 |
GO:003304422 | Oral cavity | EOLP | regulation of chromosome organization | 50/2218 | 187/18723 | 1.80e-08 | 7.94e-07 | 50 |
GO:007190023 | Oral cavity | EOLP | regulation of protein serine/threonine kinase activity | 75/2218 | 359/18723 | 5.81e-07 | 1.53e-05 | 75 |
GO:003300212 | Oral cavity | EOLP | muscle cell proliferation | 56/2218 | 248/18723 | 1.25e-06 | 3.00e-05 | 56 |
GO:004865915 | Oral cavity | EOLP | smooth muscle cell proliferation | 44/2218 | 184/18723 | 3.47e-06 | 7.48e-05 | 44 |
GO:004477222 | Oral cavity | EOLP | mitotic cell cycle phase transition | 81/2218 | 424/18723 | 8.32e-06 | 1.59e-04 | 81 |
GO:004866015 | Oral cavity | EOLP | regulation of smooth muscle cell proliferation | 42/2218 | 180/18723 | 1.10e-05 | 1.93e-04 | 42 |
GO:004586017 | Oral cavity | EOLP | positive regulation of protein kinase activity | 74/2218 | 386/18723 | 1.78e-05 | 2.89e-04 | 74 |
GO:001003826 | Oral cavity | EOLP | response to metal ion | 71/2218 | 373/18723 | 3.32e-05 | 4.65e-04 | 71 |
GO:001063923 | Oral cavity | EOLP | negative regulation of organelle organization | 67/2218 | 348/18723 | 3.78e-05 | 5.21e-04 | 67 |
GO:000008221 | Oral cavity | EOLP | G1/S transition of mitotic cell cycle | 46/2218 | 214/18723 | 4.02e-05 | 5.51e-04 | 46 |
GO:003367419 | Oral cavity | EOLP | positive regulation of kinase activity | 82/2218 | 467/18723 | 1.58e-04 | 1.68e-03 | 82 |
GO:00515929 | Oral cavity | EOLP | response to calcium ion | 33/2218 | 149/18723 | 2.62e-04 | 2.54e-03 | 33 |
GO:004484321 | Oral cavity | EOLP | cell cycle G1/S phase transition | 47/2218 | 241/18723 | 3.79e-04 | 3.41e-03 | 47 |
GO:007190214 | Oral cavity | EOLP | positive regulation of protein serine/threonine kinase activity | 40/2218 | 200/18723 | 5.93e-04 | 4.99e-03 | 40 |
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 |