GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
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:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
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:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
GO:004860818 | Esophagus | ESCC | reproductive structure development | 245/8552 | 424/18723 | 2.82e-07 | 4.14e-06 | 245 |
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:000182412 | Esophagus | ESCC | blastocyst development | 73/8552 | 106/18723 | 1.13e-06 | 1.40e-05 | 73 |
GO:00000775 | Esophagus | ESCC | DNA damage checkpoint | 78/8552 | 115/18723 | 1.27e-06 | 1.56e-05 | 78 |
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 |
ZNF830 | SNV | Missense_Mutation | | c.20N>A | p.Ala7Asp | p.A7D | Q96NB3 | protein_coding | deleterious(0.02) | benign(0.07) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ZNF830 | insertion | Frame_Shift_Ins | novel | c.68_69insCT | p.Leu24CysfsTer2 | p.L24Cfs*2 | Q96NB3 | protein_coding | | | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ZNF830 | insertion | In_Frame_Ins | novel | c.70_71insCTCACATTTTCATGGTGCCTT | p.Arg23_Leu24insSerHisIlePheMetValPro | p.R23_L24insSHIFMVP | Q96NB3 | protein_coding | | | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ZNF830 | insertion | Frame_Shift_Ins | novel | c.493_494insCTGCACTCCAGCCTGGGCGACACAGTGAGACTCC | p.Glu165AlafsTer50 | p.E165Afs*50 | Q96NB3 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF830 | SNV | Missense_Mutation | | c.223N>T | p.His75Tyr | p.H75Y | Q96NB3 | protein_coding | deleterious(0) | possibly_damaging(0.767) | TCGA-DR-A0ZL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF830 | SNV | Missense_Mutation | | c.484G>C | p.Glu162Gln | p.E162Q | Q96NB3 | protein_coding | deleterious(0.02) | possibly_damaging(0.522) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF830 | SNV | Missense_Mutation | novel | c.100A>C | p.Ser34Arg | p.S34R | Q96NB3 | protein_coding | tolerated(0.44) | benign(0.024) | TCGA-AA-3666-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
ZNF830 | SNV | Missense_Mutation | | c.161N>T | p.Ala54Val | p.A54V | Q96NB3 | protein_coding | tolerated(0.54) | benign(0) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF830 | SNV | Missense_Mutation | | c.880N>A | p.Glu294Lys | p.E294K | Q96NB3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AG-3890-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ZNF830 | SNV | Missense_Mutation | novel | c.627N>A | p.Phe209Leu | p.F209L | Q96NB3 | protein_coding | deleterious(0.02) | benign(0.156) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |