GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004225420 | Oral cavity | OSCC | ribosome biogenesis | 230/7305 | 299/18723 | 3.22e-41 | 6.80e-38 | 230 |
GO:000636410 | Oral cavity | OSCC | rRNA processing | 172/7305 | 225/18723 | 1.57e-30 | 1.24e-27 | 172 |
GO:00344709 | Oral cavity | OSCC | ncRNA processing | 263/7305 | 395/18723 | 4.38e-29 | 2.78e-26 | 263 |
GO:001607210 | Oral cavity | OSCC | rRNA metabolic process | 176/7305 | 236/18723 | 6.51e-29 | 3.24e-26 | 176 |
GO:00346605 | Oral cavity | OSCC | ncRNA metabolic process | 296/7305 | 485/18723 | 2.94e-23 | 6.65e-21 | 296 |
GO:00447728 | Oral cavity | OSCC | mitotic cell cycle phase transition | 255/7305 | 424/18723 | 5.29e-19 | 6.98e-17 | 255 |
GO:000641720 | Oral cavity | OSCC | regulation of translation | 274/7305 | 468/18723 | 4.39e-18 | 4.63e-16 | 274 |
GO:004572719 | Oral cavity | OSCC | positive regulation of translation | 101/7305 | 136/18723 | 5.85e-17 | 4.94e-15 | 101 |
GO:004227420 | Oral cavity | OSCC | ribosomal small subunit biogenesis | 63/7305 | 73/18723 | 7.61e-17 | 6.34e-15 | 63 |
GO:003425019 | Oral cavity | OSCC | positive regulation of cellular amide metabolic process | 115/7305 | 162/18723 | 1.28e-16 | 1.05e-14 | 115 |
GO:00330448 | Oral cavity | OSCC | regulation of chromosome organization | 123/7305 | 187/18723 | 9.87e-14 | 5.17e-12 | 123 |
GO:005105210 | Oral cavity | OSCC | regulation of DNA metabolic process | 207/7305 | 359/18723 | 4.45e-13 | 2.17e-11 | 207 |
GO:00435434 | Oral cavity | OSCC | protein acylation | 149/7305 | 243/18723 | 1.33e-12 | 5.80e-11 | 149 |
GO:007190010 | Oral cavity | OSCC | regulation of protein serine/threonine kinase activity | 201/7305 | 359/18723 | 3.90e-11 | 1.27e-09 | 201 |
GO:00064734 | Oral cavity | OSCC | protein acetylation | 124/7305 | 201/18723 | 5.59e-11 | 1.74e-09 | 124 |
GO:00304903 | Oral cavity | OSCC | maturation of SSU-rRNA | 41/7305 | 50/18723 | 5.59e-10 | 1.46e-08 | 41 |
GO:000072316 | Oral cavity | OSCC | telomere maintenance | 85/7305 | 131/18723 | 1.72e-09 | 4.09e-08 | 85 |
GO:001063918 | Oral cavity | OSCC | negative regulation of organelle organization | 190/7305 | 348/18723 | 2.12e-09 | 4.97e-08 | 190 |
GO:00457879 | Oral cavity | OSCC | positive regulation of cell cycle | 173/7305 | 313/18723 | 3.28e-09 | 7.44e-08 | 173 |
GO:004873220 | Oral cavity | OSCC | gland development | 226/7305 | 436/18723 | 2.78e-08 | 5.39e-07 | 226 |
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 |