GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00427697 | Esophagus | ESCC | DNA damage response, detection of DNA damage | 12/8552 | 13/18723 | 6.18e-04 | 3.32e-03 | 12 |
GO:00182124 | Esophagus | ESCC | peptidyl-tyrosine modification | 202/8552 | 378/18723 | 1.34e-03 | 6.39e-03 | 202 |
GO:00181084 | Esophagus | ESCC | peptidyl-tyrosine phosphorylation | 200/8552 | 375/18723 | 1.60e-03 | 7.45e-03 | 200 |
GO:001657021 | Liver | HCC | histone modification | 283/7958 | 463/18723 | 2.68e-16 | 2.33e-14 | 283 |
GO:00447722 | Liver | HCC | mitotic cell cycle phase transition | 240/7958 | 424/18723 | 2.47e-09 | 6.84e-08 | 240 |
GO:000734611 | Liver | HCC | regulation of mitotic cell cycle | 255/7958 | 457/18723 | 4.96e-09 | 1.30e-07 | 255 |
GO:0007059 | Liver | HCC | chromosome segregation | 197/7958 | 346/18723 | 3.57e-08 | 7.87e-07 | 197 |
GO:19019901 | Liver | HCC | regulation of mitotic cell cycle phase transition | 167/7958 | 299/18723 | 1.96e-06 | 2.71e-05 | 167 |
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:004276911 | Liver | HCC | DNA damage response, detection of DNA damage | 11/7958 | 13/18723 | 2.38e-03 | 1.16e-02 | 11 |
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 |
NEK1 | SNV | Missense_Mutation | novel | c.2695G>A | p.Glu899Lys | p.E899K | Q96PY6 | protein_coding | tolerated(0.1) | benign(0.311) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
NEK1 | SNV | Missense_Mutation | rs776493440 | c.2094N>A | p.Met698Ile | p.M698I | Q96PY6 | protein_coding | tolerated(0.52) | benign(0.001) | TCGA-AR-A2LN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
NEK1 | SNV | Missense_Mutation | | c.1261N>A | p.Val421Ile | p.V421I | Q96PY6 | protein_coding | tolerated(0.32) | benign(0.015) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
NEK1 | deletion | Frame_Shift_Del | | c.1457delG | p.Gly486AspfsTer22 | p.G486Dfs*22 | Q96PY6 | protein_coding | | | TCGA-BH-A0DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
NEK1 | SNV | Missense_Mutation | novel | c.1697G>A | p.Gly566Glu | p.G566E | Q96PY6 | protein_coding | deleterious(0.01) | probably_damaging(0.993) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
NEK1 | SNV | Missense_Mutation | rs764750478 | c.2305N>G | p.His769Asp | p.H769D | Q96PY6 | protein_coding | tolerated(0.23) | benign(0) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NEK1 | SNV | Missense_Mutation | | c.2305C>T | p.His769Tyr | p.H769Y | Q96PY6 | protein_coding | tolerated(0.88) | benign(0) | TCGA-VS-A9UD-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
NEK1 | SNV | Missense_Mutation | novel | c.2911N>A | p.Glu971Lys | p.E971K | Q96PY6 | protein_coding | tolerated(0.27) | benign(0) | TCGA-ZJ-AAXU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NEK1 | insertion | Frame_Shift_Ins | novel | c.1897_1898insA | p.Ile633AsnfsTer28 | p.I633Nfs*28 | Q96PY6 | protein_coding | | | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NEK1 | SNV | Missense_Mutation | | c.1562G>A | p.Arg521Lys | p.R521K | Q96PY6 | protein_coding | tolerated(0.08) | benign(0.053) | TCGA-AA-3488-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |