GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005197217 | Esophagus | ESCC | regulation of telomerase activity | 39/8552 | 47/18723 | 1.48e-07 | 2.35e-06 | 39 |
GO:003220618 | Esophagus | ESCC | positive regulation of telomere maintenance | 42/8552 | 52/18723 | 2.15e-07 | 3.30e-06 | 42 |
GO:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
GO:003221210 | Esophagus | ESCC | positive regulation of telomere maintenance via telomerase | 30/8552 | 34/18723 | 2.73e-07 | 4.02e-06 | 30 |
GO:005197318 | Esophagus | ESCC | positive regulation of telomerase activity | 30/8552 | 34/18723 | 2.73e-07 | 4.02e-06 | 30 |
GO:004860818 | Esophagus | ESCC | reproductive structure development | 245/8552 | 424/18723 | 2.82e-07 | 4.14e-06 | 245 |
GO:190435819 | Esophagus | ESCC | positive regulation of telomere maintenance via telomere lengthening | 32/8552 | 37/18723 | 2.96e-07 | 4.23e-06 | 32 |
GO:000627816 | Esophagus | ESCC | RNA-dependent DNA biosynthetic process | 56/8552 | 75/18723 | 3.03e-07 | 4.30e-06 | 56 |
GO:005140318 | Esophagus | ESCC | stress-activated MAPK cascade | 147/8552 | 239/18723 | 5.43e-07 | 7.18e-06 | 147 |
GO:190435616 | Esophagus | ESCC | regulation of telomere maintenance via telomere lengthening | 47/8552 | 61/18723 | 5.61e-07 | 7.40e-06 | 47 |
GO:00719029 | Esophagus | ESCC | positive regulation of protein serine/threonine kinase activity | 124/8552 | 200/18723 | 2.27e-06 | 2.61e-05 | 124 |
GO:004586018 | Esophagus | ESCC | positive regulation of protein kinase activity | 219/8552 | 386/18723 | 6.91e-06 | 6.97e-05 | 219 |
GO:003367420 | Esophagus | ESCC | positive regulation of kinase activity | 260/8552 | 467/18723 | 7.26e-06 | 7.22e-05 | 260 |
GO:007030217 | Esophagus | ESCC | regulation of stress-activated protein kinase signaling cascade | 119/8552 | 195/18723 | 1.07e-05 | 1.01e-04 | 119 |
GO:003220014 | Esophagus | ESCC | telomere organization | 99/8552 | 159/18723 | 1.77e-05 | 1.57e-04 | 99 |
GO:000941611 | Esophagus | ESCC | response to light stimulus | 183/8552 | 320/18723 | 2.03e-05 | 1.76e-04 | 183 |
GO:003287217 | Esophagus | ESCC | regulation of stress-activated MAPK cascade | 116/8552 | 192/18723 | 2.63e-05 | 2.21e-04 | 116 |
GO:19043532 | Esophagus | ESCC | regulation of telomere capping | 22/8552 | 26/18723 | 4.88e-05 | 3.83e-04 | 22 |
GO:00162332 | Esophagus | ESCC | telomere capping | 28/8552 | 39/18723 | 8.57e-04 | 4.40e-03 | 28 |
GO:00434055 | Esophagus | ESCC | regulation of MAP kinase activity | 102/8552 | 177/18723 | 8.89e-04 | 4.55e-03 | 102 |
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 |
MAP3K4 | SNV | Missense_Mutation | | c.602N>T | p.Ser201Phe | p.S201F | Q9Y6R4 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MAP3K4 | SNV | Missense_Mutation | | c.4109N>G | p.Ala1370Gly | p.A1370G | Q9Y6R4 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A4ZE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MAP3K4 | SNV | Missense_Mutation | | c.4076N>G | p.Thr1359Ser | p.T1359S | Q9Y6R4 | protein_coding | tolerated(0.13) | probably_damaging(0.981) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAP3K4 | SNV | Missense_Mutation | novel | c.3309N>C | p.Glu1103Asp | p.E1103D | Q9Y6R4 | protein_coding | tolerated(0.41) | probably_damaging(0.99) | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
MAP3K4 | SNV | Missense_Mutation | | c.1340C>T | p.Thr447Ile | p.T447I | Q9Y6R4 | protein_coding | tolerated(0.18) | benign(0.189) | TCGA-B6-A0IC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAP3K4 | SNV | Missense_Mutation | novel | c.3635N>G | p.Ser1212Cys | p.S1212C | Q9Y6R4 | protein_coding | tolerated(0.19) | benign(0.001) | TCGA-LD-A74U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | taxotere | SD |
MAP3K4 | SNV | Missense_Mutation | novel | c.4030N>G | p.Gln1344Glu | p.Q1344E | Q9Y6R4 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-OL-A97C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MAP3K4 | insertion | Nonsense_Mutation | novel | c.1267_1268insCTCATTCATGTTAGACTCA | p.Gly423AlafsTer5 | p.G423Afs*5 | Q9Y6R4 | protein_coding | | | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
MAP3K4 | insertion | Frame_Shift_Ins | novel | c.664_665insA | p.Arg222GlnfsTer6 | p.R222Qfs*6 | Q9Y6R4 | protein_coding | | | TCGA-AO-A0JI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
MAP3K4 | insertion | Frame_Shift_Ins | novel | c.665_666insCTTCATAT | p.Leu223PhefsTer4 | p.L223Ffs*4 | Q9Y6R4 | protein_coding | | | TCGA-AO-A0JI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |