GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001648210 | Esophagus | ESCC | cytosolic transport | 124/8552 | 168/18723 | 9.69e-14 | 4.69e-12 | 124 |
GO:00482853 | Esophagus | ESCC | organelle fission | 301/8552 | 488/18723 | 4.64e-13 | 2.12e-11 | 301 |
GO:00988133 | Esophagus | ESCC | nuclear chromosome segregation | 187/8552 | 281/18723 | 1.00e-12 | 4.36e-11 | 187 |
GO:000689215 | Esophagus | ESCC | post-Golgi vesicle-mediated transport | 82/8552 | 104/18723 | 4.00e-12 | 1.55e-10 | 82 |
GO:00002802 | Esophagus | ESCC | nuclear division | 270/8552 | 439/18723 | 1.17e-11 | 4.24e-10 | 270 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
GO:0016049110 | Esophagus | ESCC | cell growth | 289/8552 | 482/18723 | 1.29e-10 | 3.77e-09 | 289 |
GO:190199013 | Esophagus | ESCC | regulation of mitotic cell cycle phase transition | 191/8552 | 299/18723 | 1.35e-10 | 3.94e-09 | 191 |
GO:00457865 | Esophagus | ESCC | negative regulation of cell cycle | 236/8552 | 385/18723 | 3.62e-10 | 9.93e-09 | 236 |
GO:0009895111 | Esophagus | ESCC | negative regulation of catabolic process | 201/8552 | 320/18723 | 3.88e-10 | 1.05e-08 | 201 |
GO:00000754 | Esophagus | ESCC | cell cycle checkpoint | 117/8552 | 169/18723 | 4.47e-10 | 1.17e-08 | 117 |
GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
GO:000155819 | Esophagus | ESCC | regulation of cell growth | 248/8552 | 414/18723 | 2.97e-09 | 6.45e-08 | 248 |
GO:0031330111 | Esophagus | ESCC | negative regulation of cellular catabolic process | 166/8552 | 262/18723 | 5.17e-09 | 1.08e-07 | 166 |
GO:00065136 | Esophagus | ESCC | protein monoubiquitination | 53/8552 | 67/18723 | 2.11e-08 | 4.03e-07 | 53 |
GO:000091016 | Esophagus | ESCC | cytokinesis | 115/8552 | 173/18723 | 2.48e-08 | 4.68e-07 | 115 |
GO:00070934 | Esophagus | ESCC | mitotic cell cycle checkpoint | 90/8552 | 129/18723 | 2.49e-08 | 4.69e-07 | 90 |
GO:00519833 | Esophagus | ESCC | regulation of chromosome segregation | 67/8552 | 91/18723 | 5.42e-08 | 9.66e-07 | 67 |
GO:00070883 | Esophagus | ESCC | regulation of mitotic nuclear division | 78/8552 | 110/18723 | 6.96e-08 | 1.21e-06 | 78 |
GO:00070912 | Esophagus | ESCC | metaphase/anaphase transition of mitotic cell cycle | 49/8552 | 62/18723 | 7.65e-08 | 1.33e-06 | 49 |
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 |
KLHL2 | SNV | Missense_Mutation | | c.359N>T | p.Thr120Ile | p.T120I | O95198 | protein_coding | deleterious(0.01) | possibly_damaging(0.461) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHL2 | deletion | Frame_Shift_Del | novel | c.20delN | p.Gln9ArgfsTer28 | p.Q9Rfs*28 | O95198 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.575T>C | p.Val192Ala | p.V192A | O95198 | protein_coding | deleterious(0.03) | possibly_damaging(0.895) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KLHL2 | SNV | Missense_Mutation | novel | c.1390C>T | p.Arg464Cys | p.R464C | O95198 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KLHL2 | SNV | Missense_Mutation | | c.1525N>C | p.Asp509His | p.D509H | O95198 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A1BK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.1170N>A | p.Met390Ile | p.M390I | O95198 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-C5-A1MK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
KLHL2 | SNV | Missense_Mutation | rs770856919 | c.905N>A | p.Arg302Gln | p.R302Q | O95198 | protein_coding | deleterious(0.05) | benign(0.285) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | | c.1237N>C | p.Asp413His | p.D413H | O95198 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.1435G>C | p.Glu479Gln | p.E479Q | O95198 | protein_coding | tolerated(0.33) | benign(0.043) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL2 | SNV | Missense_Mutation | novel | c.726N>A | p.Met242Ile | p.M242I | O95198 | protein_coding | tolerated(0.12) | benign(0.026) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |