GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0043254111 | Esophagus | ESCC | regulation of protein-containing complex assembly | 278/8552 | 428/18723 | 3.81e-16 | 2.77e-14 | 278 |
GO:0031334111 | Esophagus | ESCC | positive regulation of protein-containing complex assembly | 166/8552 | 237/18723 | 2.06e-14 | 1.07e-12 | 166 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:000072319 | Esophagus | ESCC | telomere maintenance | 99/8552 | 131/18723 | 2.68e-12 | 1.08e-10 | 99 |
GO:007189716 | Esophagus | ESCC | DNA biosynthetic process | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:004339320 | Esophagus | ESCC | regulation of protein binding | 135/8552 | 196/18723 | 3.69e-11 | 1.22e-09 | 135 |
GO:003220417 | Esophagus | ESCC | regulation of telomere maintenance | 65/8552 | 80/18723 | 6.02e-11 | 1.90e-09 | 65 |
GO:2000278110 | Esophagus | ESCC | regulation of DNA biosynthetic process | 81/8552 | 106/18723 | 9.81e-11 | 2.96e-09 | 81 |
GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
GO:000700418 | Esophagus | ESCC | telomere maintenance via telomerase | 56/8552 | 69/18723 | 1.40e-09 | 3.30e-08 | 56 |
GO:003450211 | Esophagus | ESCC | protein localization to chromosome | 70/8552 | 92/18723 | 2.54e-09 | 5.64e-08 | 70 |
GO:0031397111 | Esophagus | ESCC | negative regulation of protein ubiquitination | 63/8552 | 83/18723 | 1.87e-08 | 3.65e-07 | 63 |
GO:0051100111 | Esophagus | ESCC | negative regulation of binding | 109/8552 | 162/18723 | 2.10e-08 | 4.03e-07 | 109 |
GO:001083319 | Esophagus | ESCC | telomere maintenance via telomere lengthening | 61/8552 | 81/18723 | 5.24e-08 | 9.37e-07 | 61 |
GO:1903321111 | Esophagus | ESCC | negative regulation of protein modification by small protein conjugation or removal | 69/8552 | 95/18723 | 8.54e-08 | 1.44e-06 | 69 |
GO:00322108 | Esophagus | ESCC | regulation of telomere maintenance via telomerase | 43/8552 | 53/18723 | 1.20e-07 | 1.95e-06 | 43 |
GO:000627816 | Esophagus | ESCC | RNA-dependent DNA biosynthetic process | 56/8552 | 75/18723 | 3.03e-07 | 4.30e-06 | 56 |
GO:190435616 | Esophagus | ESCC | regulation of telomere maintenance via telomere lengthening | 47/8552 | 61/18723 | 5.61e-07 | 7.40e-06 | 47 |
GO:001692512 | Esophagus | ESCC | protein sumoylation | 41/8552 | 53/18723 | 2.49e-06 | 2.86e-05 | 41 |
GO:003209116 | Esophagus | ESCC | negative regulation of protein binding | 65/8552 | 94/18723 | 3.46e-06 | 3.82e-05 | 65 |
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 |
GNL3L | SNV | Missense_Mutation | | c.1486N>G | p.His496Asp | p.H496D | Q9NVN8 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-A2-A0YG-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
GNL3L | SNV | Missense_Mutation | | c.695N>T | p.Gly232Val | p.G232V | Q9NVN8 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A0XR-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GNL3L | SNV | Missense_Mutation | novel | c.949N>C | p.Thr317Pro | p.T317P | Q9NVN8 | protein_coding | tolerated(0.08) | benign(0.356) | TCGA-BH-A1FH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
GNL3L | SNV | Missense_Mutation | rs139639751 | c.283C>T | p.Arg95Cys | p.R95C | Q9NVN8 | protein_coding | deleterious(0.02) | probably_damaging(0.985) | TCGA-BH-A203-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GNL3L | SNV | Missense_Mutation | | c.695N>C | p.Gly232Ala | p.G232A | Q9NVN8 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-C8-A275-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GNL3L | SNV | Missense_Mutation | | c.907N>A | p.Asp303Asn | p.D303N | Q9NVN8 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-E2-A1LA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
GNL3L | SNV | Missense_Mutation | | c.829G>T | p.Ala277Ser | p.A277S | Q9NVN8 | protein_coding | tolerated(0.09) | possibly_damaging(0.604) | TCGA-EW-A1IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
GNL3L | SNV | Missense_Mutation | rs780270239 | c.1595N>T | p.Thr532Met | p.T532M | Q9NVN8 | protein_coding | tolerated(0.12) | benign(0.045) | TCGA-GM-A2DC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | xeloda | CR |
GNL3L | insertion | In_Frame_Ins | novel | c.1565_1566insTCCAGGCTCCTGTTCTTACCCAAGCCTGTGTCCCTA | p.Arg522_Arg523insProGlySerCysSerTyrProSerLeuCysProTyr | p.R522_R523insPGSCSYPSLCPY | Q9NVN8 | protein_coding | | | TCGA-A8-A07F-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
GNL3L | SNV | Missense_Mutation | rs772121803 | c.1358N>T | p.Thr453Met | p.T453M | Q9NVN8 | protein_coding | tolerated(0.33) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |