GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000734611 | Liver | HCC | regulation of mitotic cell cycle | 255/7958 | 457/18723 | 4.96e-09 | 1.30e-07 | 255 |
GO:19019871 | Liver | HCC | regulation of cell cycle phase transition | 211/7958 | 390/18723 | 2.11e-06 | 2.89e-05 | 211 |
GO:00427702 | Liver | HCC | signal transduction in response to DNA damage | 103/7958 | 172/18723 | 3.05e-06 | 4.04e-05 | 103 |
GO:00000751 | Liver | HCC | cell cycle checkpoint | 100/7958 | 169/18723 | 8.75e-06 | 1.02e-04 | 100 |
GO:0045786 | Liver | HCC | negative regulation of cell cycle | 204/7958 | 385/18723 | 1.84e-05 | 1.99e-04 | 204 |
GO:0045930 | Liver | HCC | negative regulation of mitotic cell cycle | 130/7958 | 235/18723 | 4.69e-05 | 4.50e-04 | 130 |
GO:0007093 | Liver | HCC | mitotic cell cycle checkpoint | 77/7958 | 129/18723 | 6.00e-05 | 5.50e-04 | 77 |
GO:00000771 | Liver | HCC | DNA damage checkpoint | 68/7958 | 115/18723 | 2.33e-04 | 1.77e-03 | 68 |
GO:0031570 | Liver | HCC | DNA integrity checkpoint | 71/7958 | 123/18723 | 4.64e-04 | 3.08e-03 | 71 |
GO:1901988 | Liver | HCC | negative regulation of cell cycle phase transition | 132/7958 | 249/18723 | 4.97e-04 | 3.25e-03 | 132 |
GO:0010948 | Liver | HCC | negative regulation of cell cycle process | 152/7958 | 294/18723 | 8.50e-04 | 5.08e-03 | 152 |
GO:0044773 | Liver | HCC | mitotic DNA damage checkpoint | 48/7958 | 81/18723 | 1.72e-03 | 8.96e-03 | 48 |
GO:0044774 | Liver | HCC | mitotic DNA integrity checkpoint | 49/7958 | 85/18723 | 3.44e-03 | 1.55e-02 | 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 |
MDC1 | SNV | Missense_Mutation | | c.407N>G | p.Ser136Cys | p.S136C | Q14676 | protein_coding | deleterious(0.01) | benign(0.319) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MDC1 | SNV | Missense_Mutation | novel | c.4973N>T | p.Ser1658Phe | p.S1658F | Q14676 | protein_coding | deleterious(0.01) | possibly_damaging(0.758) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | | c.2942N>T | p.Ser981Leu | p.S981L | Q14676 | protein_coding | tolerated(0.12) | benign(0.056) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | | c.5524G>A | p.Glu1842Lys | p.E1842K | Q14676 | protein_coding | deleterious(0.05) | probably_damaging(0.98) | TCGA-JX-A3PZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
MDC1 | SNV | Missense_Mutation | | c.4351N>G | p.Thr1451Ala | p.T1451A | Q14676 | protein_coding | tolerated(0.1) | benign(0.074) | TCGA-LP-A4AW-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | | c.3799N>G | p.Gln1267Glu | p.Q1267E | Q14676 | protein_coding | tolerated(0.19) | benign(0.026) | TCGA-LP-A4AW-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | novel | c.1744N>C | p.Glu582Gln | p.E582Q | Q14676 | protein_coding | tolerated(0.1) | possibly_damaging(0.702) | TCGA-MA-AA3Y-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | rs745970640 | c.2414G>A | p.Arg805Lys | p.R805K | Q14676 | protein_coding | tolerated(0.07) | benign(0.287) | TCGA-VS-A9UP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
MDC1 | SNV | Missense_Mutation | novel | c.1129G>C | p.Asp377His | p.D377H | Q14676 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-VS-A9UP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
MDC1 | SNV | Missense_Mutation | novel | c.529G>A | p.Glu177Lys | p.E177K | Q14676 | protein_coding | tolerated(0.12) | benign(0.012) | TCGA-VS-A9UP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |