GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:001605014 | Esophagus | ESCC | vesicle organization | 211/8552 | 300/18723 | 2.85e-18 | 2.87e-16 | 211 |
GO:000688815 | Esophagus | ESCC | endoplasmic reticulum to Golgi vesicle-mediated transport | 102/8552 | 130/18723 | 1.73e-14 | 9.22e-13 | 102 |
GO:0006900111 | Esophagus | ESCC | vesicle budding from membrane | 54/8552 | 61/18723 | 2.66e-12 | 1.07e-10 | 54 |
GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
GO:00065136 | Esophagus | ESCC | protein monoubiquitination | 53/8552 | 67/18723 | 2.11e-08 | 4.03e-07 | 53 |
GO:009011414 | Esophagus | ESCC | COPII-coated vesicle budding | 27/8552 | 29/18723 | 8.09e-08 | 1.39e-06 | 27 |
GO:00069038 | Esophagus | ESCC | vesicle targeting | 38/8552 | 45/18723 | 8.42e-08 | 1.43e-06 | 38 |
GO:004819914 | Esophagus | ESCC | vesicle targeting, to, from or within Golgi | 19/8552 | 21/18723 | 2.28e-05 | 1.96e-04 | 19 |
GO:000690115 | Esophagus | ESCC | vesicle coating | 16/8552 | 17/18723 | 3.46e-05 | 2.82e-04 | 16 |
GO:00488638 | Esophagus | ESCC | stem cell differentiation | 122/8552 | 206/18723 | 5.95e-05 | 4.59e-04 | 122 |
GO:00018378 | Esophagus | ESCC | epithelial to mesenchymal transition | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
GO:004820714 | Esophagus | ESCC | vesicle targeting, rough ER to cis-Golgi | 12/8552 | 13/18723 | 6.18e-04 | 3.32e-03 | 12 |
GO:004820814 | Esophagus | ESCC | COPII vesicle coating | 12/8552 | 13/18723 | 6.18e-04 | 3.32e-03 | 12 |
GO:00604856 | Esophagus | ESCC | mesenchyme development | 156/8552 | 291/18723 | 3.76e-03 | 1.53e-02 | 156 |
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 |
KLHL12 | SNV | Missense_Mutation | novel | c.1402N>A | p.Val468Ile | p.V468I | Q53G59 | protein_coding | tolerated(0.08) | possibly_damaging(0.623) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | novel | c.827G>A | p.Arg276His | p.R276H | Q53G59 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | | c.407N>C | p.Leu136Pro | p.L136P | Q53G59 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | novel | c.667N>T | p.Arg223Trp | p.R223W | Q53G59 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-D1-A16F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | rs545172436 | c.556G>A | p.Asp186Asn | p.D186N | Q53G59 | protein_coding | tolerated(0.06) | probably_damaging(0.989) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | novel | c.988C>T | p.Arg330Trp | p.R330W | Q53G59 | protein_coding | deleterious(0.02) | probably_damaging(0.95) | TCGA-D1-A1NZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | rs760677247 | c.1529N>A | p.Arg510Gln | p.R510Q | Q53G59 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | novel | c.80N>T | p.Arg27Met | p.R27M | Q53G59 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EC-A1QX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | PD |
KLHL12 | SNV | Missense_Mutation | | c.1192N>T | p.Arg398Cys | p.R398C | Q53G59 | protein_coding | tolerated(0.1) | benign(0.079) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | novel | c.69G>T | p.Met23Ile | p.M23I | Q53G59 | protein_coding | tolerated(0.28) | possibly_damaging(0.708) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |