GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001094811 | Oral cavity | LP | negative regulation of cell cycle process | 95/4623 | 294/18723 | 1.80e-03 | 1.37e-02 | 95 |
GO:200004512 | Oral cavity | LP | regulation of G1/S transition of mitotic cell cycle | 51/4623 | 142/18723 | 1.81e-03 | 1.37e-02 | 51 |
GO:190198811 | Oral cavity | LP | negative regulation of cell cycle phase transition | 80/4623 | 249/18723 | 4.63e-03 | 2.94e-02 | 80 |
GO:000007511 | Oral cavity | LP | cell cycle checkpoint | 57/4623 | 169/18723 | 5.05e-03 | 3.14e-02 | 57 |
GO:000630211 | Oral cavity | LP | double-strand break repair | 80/4623 | 251/18723 | 5.81e-03 | 3.46e-02 | 80 |
GO:004477311 | Oral cavity | LP | mitotic DNA damage checkpoint | 30/4623 | 81/18723 | 8.95e-03 | 4.82e-02 | 30 |
GO:004477222 | Oral cavity | EOLP | mitotic cell cycle phase transition | 81/2218 | 424/18723 | 8.32e-06 | 1.59e-04 | 81 |
GO:200102024 | Oral cavity | EOLP | regulation of response to DNA damage stimulus | 47/2218 | 219/18723 | 3.47e-05 | 4.85e-04 | 47 |
GO:000008221 | Oral cavity | EOLP | G1/S transition of mitotic cell cycle | 46/2218 | 214/18723 | 4.02e-05 | 5.51e-04 | 46 |
GO:000734621 | Oral cavity | EOLP | regulation of mitotic cell cycle | 82/2218 | 457/18723 | 7.50e-05 | 9.14e-04 | 82 |
GO:001021224 | Oral cavity | EOLP | response to ionizing radiation | 34/2218 | 148/18723 | 1.01e-04 | 1.15e-03 | 34 |
GO:004484321 | Oral cavity | EOLP | cell cycle G1/S phase transition | 47/2218 | 241/18723 | 3.79e-04 | 3.41e-03 | 47 |
GO:190199021 | Oral cavity | EOLP | regulation of mitotic cell cycle phase transition | 54/2218 | 299/18723 | 1.01e-03 | 7.54e-03 | 54 |
GO:200004521 | Oral cavity | EOLP | regulation of G1/S transition of mitotic cell cycle | 29/2218 | 142/18723 | 2.27e-03 | 1.41e-02 | 29 |
GO:00063022 | Oral cavity | EOLP | double-strand break repair | 44/2218 | 251/18723 | 4.94e-03 | 2.62e-02 | 44 |
GO:000931423 | Oral cavity | EOLP | response to radiation | 72/2218 | 456/18723 | 6.60e-03 | 3.23e-02 | 72 |
GO:004277022 | Oral cavity | EOLP | signal transduction in response to DNA damage | 31/2218 | 172/18723 | 1.11e-02 | 4.90e-02 | 31 |
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 |
RFWD3 | SNV | Missense_Mutation | | c.2204N>T | p.Ser735Leu | p.S735L | Q6PCD5 | protein_coding | tolerated(0.06) | benign(0.01) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RFWD3 | SNV | Missense_Mutation | | c.1334N>G | p.Ser445Cys | p.S445C | Q6PCD5 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RFWD3 | SNV | Missense_Mutation | | c.244N>C | p.Glu82Gln | p.E82Q | Q6PCD5 | protein_coding | deleterious_low_confidence(0.05) | probably_damaging(0.996) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RFWD3 | SNV | Missense_Mutation | | c.1219N>G | p.Gln407Glu | p.Q407E | Q6PCD5 | protein_coding | tolerated(0.48) | benign(0.021) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RFWD3 | SNV | Missense_Mutation | rs747018311 | c.1211N>T | p.Thr404Met | p.T404M | Q6PCD5 | protein_coding | tolerated(0.39) | benign(0) | TCGA-E2-A1B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Adriamycin | SD |
RFWD3 | insertion | Frame_Shift_Ins | novel | c.178_179insACAGACAGTGCCAGGTAAATAAATATATGGATAAGTCTGTGATCAT | p.Val60AspfsTer35 | p.V60Dfs*35 | Q6PCD5 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
RFWD3 | insertion | Frame_Shift_Ins | novel | c.1227_1228insTA | p.Asn410Ter | p.N410* | Q6PCD5 | protein_coding | | | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
RFWD3 | SNV | Missense_Mutation | novel | c.356N>T | p.Ser119Leu | p.S119L | Q6PCD5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
RFWD3 | SNV | Missense_Mutation | novel | c.2198G>A | p.Ser733Asn | p.S733N | Q6PCD5 | protein_coding | tolerated(0.07) | benign(0.037) | TCGA-C5-A8XK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
RFWD3 | insertion | Nonsense_Mutation | novel | c.532_533insAAGCTTCA | p.Leu178Ter | p.L178* | Q6PCD5 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |