GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
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:00000754 | Esophagus | ESCC | cell cycle checkpoint | 117/8552 | 169/18723 | 4.47e-10 | 1.17e-08 | 117 |
GO:004277014 | Esophagus | ESCC | signal transduction in response to DNA damage | 117/8552 | 172/18723 | 2.38e-09 | 5.32e-08 | 117 |
GO:00448394 | Esophagus | ESCC | cell cycle G2/M phase transition | 103/8552 | 148/18723 | 3.09e-09 | 6.67e-08 | 103 |
GO:00000864 | Esophagus | ESCC | G2/M transition of mitotic cell cycle | 96/8552 | 137/18723 | 6.00e-09 | 1.23e-07 | 96 |
GO:00070934 | Esophagus | ESCC | mitotic cell cycle checkpoint | 90/8552 | 129/18723 | 2.49e-08 | 4.69e-07 | 90 |
GO:00109484 | Esophagus | ESCC | negative regulation of cell cycle process | 177/8552 | 294/18723 | 3.26e-07 | 4.59e-06 | 177 |
GO:00315705 | Esophagus | ESCC | DNA integrity checkpoint | 83/8552 | 123/18723 | 8.17e-07 | 1.06e-05 | 83 |
GO:00000775 | Esophagus | ESCC | DNA damage checkpoint | 78/8552 | 115/18723 | 1.27e-06 | 1.56e-05 | 78 |
GO:19019883 | Esophagus | ESCC | negative regulation of cell cycle phase transition | 151/8552 | 249/18723 | 1.28e-06 | 1.57e-05 | 151 |
GO:004593013 | Esophagus | ESCC | negative regulation of mitotic cell cycle | 143/8552 | 235/18723 | 1.84e-06 | 2.15e-05 | 143 |
GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
GO:190199113 | Esophagus | ESCC | negative regulation of mitotic cell cycle phase transition | 112/8552 | 179/18723 | 3.69e-06 | 4.03e-05 | 112 |
GO:00103891 | Esophagus | ESCC | regulation of G2/M transition of mitotic cell cycle | 64/8552 | 94/18723 | 9.21e-06 | 8.82e-05 | 64 |
GO:19027491 | Esophagus | ESCC | regulation of cell cycle G2/M phase transition | 68/8552 | 102/18723 | 1.48e-05 | 1.33e-04 | 68 |
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 |
RAD17 | SNV | Missense_Mutation | novel | c.331N>A | p.Glu111Lys | p.E111K | O75943 | protein_coding | deleterious(0) | possibly_damaging(0.683) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RAD17 | SNV | Missense_Mutation | | c.937A>G | p.Lys313Glu | p.K313E | O75943 | protein_coding | tolerated(0.08) | benign(0.015) | TCGA-A8-A08Z-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RAD17 | SNV | Missense_Mutation | | c.217N>C | p.Glu73Gln | p.E73Q | O75943 | protein_coding | tolerated(0.23) | benign(0.001) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RAD17 | SNV | Missense_Mutation | | c.1496C>T | p.Thr499Met | p.T499M | O75943 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-AN-A0AS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RAD17 | SNV | Missense_Mutation | novel | c.259G>A | p.Glu87Lys | p.E87K | O75943 | protein_coding | deleterious(0.02) | benign(0.105) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RAD17 | insertion | In_Frame_Ins | novel | c.832_833insCGCGATCTCAGCTCATTGCAAGCTCTGCCTCCCAGGTTC | p.Glu278delinsAlaArgSerGlnLeuIleAlaSerSerAlaSerGlnValGln | p.E278delinsARSQLIASSASQVQ | O75943 | protein_coding | | | TCGA-BH-A0DP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
RAD17 | SNV | Missense_Mutation | rs150902866 | c.608C>T | p.Ala203Val | p.A203V | O75943 | protein_coding | tolerated(0.07) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RAD17 | SNV | Missense_Mutation | novel | c.1591N>G | p.Leu531Val | p.L531V | O75943 | protein_coding | tolerated(0.09) | benign(0.04) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
RAD17 | SNV | Missense_Mutation | | c.637N>A | p.Gly213Arg | p.G213R | O75943 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
RAD17 | SNV | Missense_Mutation | novel | c.1846N>A | p.Glu616Lys | p.E616K | O75943 | protein_coding | tolerated(0.07) | benign(0.039) | TCGA-VS-A9V1-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |