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 | novel | c.974N>A | p.Gly325Asp | p.G325D | Q14676 | protein_coding | tolerated(0.16) | benign(0.063) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | | c.4768N>A | p.Pro1590Thr | p.P1590T | Q14676 | protein_coding | deleterious(0.02) | possibly_damaging(0.521) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | | c.707C>T | p.Ala236Val | p.A236V | Q14676 | protein_coding | tolerated(0.08) | benign(0.371) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
MDC1 | SNV | Missense_Mutation | rs368708770 | c.5432G>A | p.Arg1811His | p.R1811H | Q14676 | protein_coding | tolerated(0.47) | benign(0.007) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | | c.4439G>A | p.Arg1480Lys | p.R1480K | Q14676 | protein_coding | tolerated(0.17) | benign(0.011) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | novel | c.2891N>A | p.Ser964Asn | p.S964N | Q14676 | protein_coding | tolerated(0.28) | benign(0.003) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | novel | c.260N>A | p.Pro87His | p.P87H | Q14676 | protein_coding | tolerated(0.05) | probably_damaging(0.999) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | | c.4553G>T | p.Arg1518Ile | p.R1518I | Q14676 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | novel | c.3857C>T | p.Pro1286Leu | p.P1286L | Q14676 | protein_coding | deleterious(0.02) | benign(0) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MDC1 | SNV | Missense_Mutation | novel | c.64G>A | p.Glu22Lys | p.E22K | Q14676 | protein_coding | deleterious(0.02) | benign(0.076) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |