GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:000941113 | Esophagus | ESCC | response to UV | 115/8552 | 149/18723 | 3.29e-15 | 1.93e-13 | 115 |
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:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
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:00070934 | Esophagus | ESCC | mitotic cell cycle checkpoint | 90/8552 | 129/18723 | 2.49e-08 | 4.69e-07 | 90 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
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:00000775 | Esophagus | ESCC | DNA damage checkpoint | 78/8552 | 115/18723 | 1.27e-06 | 1.56e-05 | 78 |
GO:19019883 | Esophagus | ESCC | negative regulation of cell cycle phase transition | 151/8552 | 249/18723 | 1.28e-06 | 1.57e-05 | 151 |
GO:004593013 | Esophagus | ESCC | negative regulation of mitotic cell cycle | 143/8552 | 235/18723 | 1.84e-06 | 2.15e-05 | 143 |
GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
GO:000941611 | Esophagus | ESCC | response to light stimulus | 183/8552 | 320/18723 | 2.03e-05 | 1.76e-04 | 183 |
GO:004477312 | Esophagus | ESCC | mitotic DNA damage checkpoint | 54/8552 | 81/18723 | 1.09e-04 | 7.64e-04 | 54 |
GO:00447745 | Esophagus | ESCC | mitotic DNA integrity checkpoint | 56/8552 | 85/18723 | 1.34e-04 | 9.09e-04 | 56 |
GO:0090329 | Esophagus | ESCC | regulation of DNA-dependent DNA replication | 30/8552 | 46/18723 | 5.91e-03 | 2.18e-02 | 30 |
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 |
TIPIN | SNV | Missense_Mutation | | c.769G>A | p.Glu257Lys | p.E257K | Q9BVW5 | protein_coding | tolerated_low_confidence(0.93) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TIPIN | SNV | Missense_Mutation | | c.179T>C | p.Val60Ala | p.V60A | Q9BVW5 | protein_coding | tolerated(0.1) | benign(0.07) | TCGA-AR-A1AH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | | PD |
TIPIN | SNV | Missense_Mutation | | c.781N>C | p.Asp261His | p.D261H | Q9BVW5 | protein_coding | tolerated_low_confidence(0.08) | benign(0.015) | TCGA-E2-A14Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
TIPIN | SNV | Missense_Mutation | | c.650N>C | p.Lys217Thr | p.K217T | Q9BVW5 | protein_coding | deleterious(0) | possibly_damaging(0.573) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIPIN | SNV | Missense_Mutation | rs76072153 | c.425G>A | p.Arg142Gln | p.R142Q | Q9BVW5 | protein_coding | tolerated(0.08) | benign(0.283) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TIPIN | SNV | Missense_Mutation | | c.646N>A | p.Ala216Thr | p.A216T | Q9BVW5 | protein_coding | deleterious(0) | possibly_damaging(0.862) | TCGA-A5-A0GB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TIPIN | SNV | Missense_Mutation | | c.250N>A | p.Val84Ile | p.V84I | Q9BVW5 | protein_coding | tolerated(0.12) | benign(0.388) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TIPIN | SNV | Missense_Mutation | | c.351N>C | p.Lys117Asn | p.K117N | Q9BVW5 | protein_coding | deleterious(0) | possibly_damaging(0.883) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
TIPIN | SNV | Missense_Mutation | rs573461004 | c.25G>A | p.Val9Met | p.V9M | Q9BVW5 | protein_coding | tolerated(0.23) | benign(0) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
TIPIN | SNV | Missense_Mutation | novel | c.171G>T | p.Lys57Asn | p.K57N | Q9BVW5 | protein_coding | deleterious(0) | possibly_damaging(0.601) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |