GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:0051168110 | Esophagus | ESCC | nuclear export | 126/8552 | 154/18723 | 1.88e-20 | 2.65e-18 | 126 |
GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:1903050111 | Esophagus | ESCC | regulation of proteolysis involved in cellular protein catabolic process | 163/8552 | 221/18723 | 1.44e-17 | 1.27e-15 | 163 |
GO:0061136111 | Esophagus | ESCC | regulation of proteasomal protein catabolic process | 142/8552 | 187/18723 | 2.40e-17 | 2.00e-15 | 142 |
GO:190285015 | Esophagus | ESCC | microtubule cytoskeleton organization involved in mitosis | 116/8552 | 147/18723 | 1.25e-16 | 9.91e-15 | 116 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:000705214 | Esophagus | ESCC | mitotic spindle organization | 97/8552 | 120/18723 | 2.17e-15 | 1.33e-13 | 97 |
GO:000705114 | Esophagus | ESCC | spindle organization | 134/8552 | 184/18723 | 5.70e-14 | 2.87e-12 | 134 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:007190016 | Esophagus | ESCC | regulation of protein serine/threonine kinase activity | 227/8552 | 359/18723 | 1.12e-11 | 4.10e-10 | 227 |
GO:0051099111 | Esophagus | ESCC | positive regulation of binding | 122/8552 | 173/18723 | 2.79e-11 | 9.45e-10 | 122 |
GO:004339320 | Esophagus | ESCC | regulation of protein binding | 135/8552 | 196/18723 | 3.69e-11 | 1.22e-09 | 135 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
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 |
PKD1 | SNV | Missense_Mutation | novel | c.6091N>T | p.Val2031Leu | p.V2031L | P98161 | protein_coding | tolerated(0.11) | benign(0.426) | TCGA-CR-7402-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | SD |
PKD1 | SNV | Missense_Mutation | novel | c.4918N>C | p.Gly1640Arg | p.G1640R | P98161 | protein_coding | deleterious(0.02) | probably_damaging(0.954) | TCGA-CV-6950-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
PKD1 | SNV | Missense_Mutation | rs574203747 | c.6721C>G | p.Leu2241Val | p.L2241V | P98161 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CV-7243-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
PKD1 | SNV | Missense_Mutation | novel | c.2602N>T | p.Ala868Ser | p.A868S | P98161 | protein_coding | tolerated(0.13) | possibly_damaging(0.449) | TCGA-CV-7263-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
PKD1 | SNV | Missense_Mutation | rs577536178 | c.3824N>T | p.Gly1275Val | p.G1275V | P98161 | protein_coding | deleterious(0.01) | benign(0.02) | TCGA-CV-A45Z-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
PKD1 | SNV | Missense_Mutation | rs750594767 | c.2503N>T | p.Arg835Cys | p.R835C | P98161 | protein_coding | deleterious(0.05) | possibly_damaging(0.613) | TCGA-F7-A624-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PKD1 | SNV | Missense_Mutation | novel | c.5281G>A | p.Glu1761Lys | p.E1761K | P98161 | protein_coding | tolerated(0.85) | benign(0.029) | TCGA-H7-A76A-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PKD1 | SNV | Missense_Mutation | novel | c.12652N>C | p.Val4218Leu | p.V4218L | P98161 | protein_coding | tolerated(0.41) | benign(0.114) | TCGA-KU-A66S-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
PKD1 | SNV | Missense_Mutation | novel | c.4808N>T | p.Ser1603Phe | p.S1603F | P98161 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-P3-A5QF-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cetuximab | PD |
PKD1 | SNV | Missense_Mutation | novel | c.12268C>T | p.Leu4090Phe | p.L4090F | P98161 | protein_coding | tolerated(0.74) | possibly_damaging(0.627) | TCGA-QK-A8ZA-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | SD |