GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00021819 | Breast | Precancer | cytoplasmic translation | 80/1080 | 148/18723 | 1.59e-59 | 8.54e-56 | 80 |
GO:00226139 | Breast | Precancer | ribonucleoprotein complex biogenesis | 79/1080 | 463/18723 | 2.11e-18 | 1.03e-15 | 79 |
GO:00971939 | Breast | Precancer | intrinsic apoptotic signaling pathway | 59/1080 | 288/18723 | 8.07e-18 | 3.60e-15 | 59 |
GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:20012429 | Breast | Precancer | regulation of intrinsic apoptotic signaling pathway | 41/1080 | 164/18723 | 6.48e-16 | 2.31e-13 | 41 |
GO:00718269 | Breast | Precancer | ribonucleoprotein complex subunit organization | 48/1080 | 227/18723 | 2.68e-15 | 8.45e-13 | 48 |
GO:00226189 | Breast | Precancer | ribonucleoprotein complex assembly | 47/1080 | 220/18723 | 3.47e-15 | 1.03e-12 | 47 |
GO:00083809 | Breast | Precancer | RNA splicing | 65/1080 | 434/18723 | 1.27e-12 | 2.53e-10 | 65 |
GO:00434849 | Breast | Precancer | regulation of RNA splicing | 34/1080 | 148/18723 | 2.66e-12 | 4.75e-10 | 34 |
GO:00064138 | Breast | Precancer | translational initiation | 30/1080 | 118/18723 | 3.23e-12 | 5.58e-10 | 30 |
GO:00064179 | Breast | Precancer | regulation of translation | 67/1080 | 468/18723 | 4.71e-12 | 7.64e-10 | 67 |
GO:00457279 | Breast | Precancer | positive regulation of translation | 32/1080 | 136/18723 | 5.89e-12 | 9.27e-10 | 32 |
GO:00003759 | Breast | Precancer | RNA splicing, via transesterification reactions | 52/1080 | 324/18723 | 1.74e-11 | 2.22e-09 | 52 |
GO:00003779 | Breast | Precancer | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
GO:00003989 | Breast | Precancer | mRNA splicing, via spliceosome | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
GO:00342509 | Breast | Precancer | positive regulation of cellular amide metabolic process | 33/1080 | 162/18723 | 1.72e-10 | 1.77e-08 | 33 |
GO:20012445 | Breast | Precancer | positive regulation of intrinsic apoptotic signaling pathway | 17/1080 | 58/18723 | 1.59e-08 | 1.12e-06 | 17 |
GO:00064466 | Breast | Precancer | regulation of translational initiation | 19/1080 | 79/18723 | 7.99e-08 | 4.60e-06 | 19 |
GO:20012356 | Breast | Precancer | positive regulation of apoptotic signaling pathway | 24/1080 | 126/18723 | 1.98e-07 | 1.01e-05 | 24 |
GO:19017989 | Breast | Precancer | positive regulation of signal transduction by p53 class mediator | 10/1080 | 25/18723 | 5.77e-07 | 2.49e-05 | 10 |
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 |
F5 | SNV | Missense_Mutation | novel | c.1445N>A | p.Thr482Asn | p.T482N | P12259 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
F5 | SNV | Missense_Mutation | novel | c.3706N>G | p.Ser1236Gly | p.S1236G | P12259 | protein_coding | tolerated(0.46) | benign(0) | TCGA-EO-A3AZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.6113N>T | p.Ala2038Val | p.A2038V | P12259 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.3992N>A | p.Ser1331Tyr | p.S1331Y | P12259 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.817) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.2831N>C | p.Val944Ala | p.V944A | P12259 | protein_coding | deleterious(0.03) | benign(0.014) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | | c.4930N>A | p.Leu1644Ile | p.L1644I | P12259 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EY-A1GD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | | c.4975N>T | p.Arg1659Cys | p.R1659C | P12259 | protein_coding | tolerated(0.06) | probably_damaging(0.93) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.3230N>A | p.Ser1077Tyr | p.S1077Y | P12259 | protein_coding | deleterious(0.03) | benign(0.122) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
F5 | SNV | Missense_Mutation | novel | c.4892G>A | p.Arg1631His | p.R1631H | P12259 | protein_coding | tolerated(0.17) | benign(0.013) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
F5 | SNV | Missense_Mutation | novel | c.2438T>C | p.Leu813Pro | p.L813P | P12259 | protein_coding | tolerated(0.17) | benign(0.003) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2153 | F5 | DRUGGABLE GENOME | | drotrecogin alfa | | 15118525 |
2153 | F5 | DRUGGABLE GENOME | | rivaroxaban | RIVAROXABAN | |
2153 | F5 | DRUGGABLE GENOME | | Rivaroxaban | RIVAROXABAN | |
2153 | F5 | DRUGGABLE GENOME | | estrogens | ESTRONE SODIUM SULFATE | 11532625,16113779,12067913,12869355,16301339,9459317,10073976,15467059,11859850,10943572,12069454,12138364,14551147,7968118,11703344 |
2153 | F5 | DRUGGABLE GENOME | | Drotrecogin alfa | | |
2153 | F5 | DRUGGABLE GENOME | | Eltrombopag | ELTROMBOPAG | |
2153 | F5 | DRUGGABLE GENOME | | DROTRECOGIN ALFA | | |
2153 | F5 | DRUGGABLE GENOME | | hormonal contraceptives for systemic use | | 11532625,16113779,15208046,15946211,12869355,16301339,9459317,10073976,15467059,11859850,10943572,12069454,16769590,12138364,14551147,7968118 |
2153 | F5 | DRUGGABLE GENOME | inhibitor | CHEMBL2109065 | DROTRECOGIN ALFA (ACTIVATED) | |
2153 | F5 | DRUGGABLE GENOME | | THROMBIN | THROMBIN | |