GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:002261327 | Esophagus | HGIN | ribonucleoprotein complex biogenesis | 158/2587 | 463/18723 | 2.61e-29 | 5.23e-26 | 158 |
GO:004225426 | Esophagus | HGIN | ribosome biogenesis | 101/2587 | 299/18723 | 8.74e-19 | 4.03e-16 | 101 |
GO:003164727 | Esophagus | HGIN | regulation of protein stability | 96/2587 | 298/18723 | 2.21e-16 | 5.76e-14 | 96 |
GO:190332027 | Esophagus | HGIN | regulation of protein modification by small protein conjugation or removal | 78/2587 | 242/18723 | 1.40e-13 | 2.26e-11 | 78 |
GO:003139627 | Esophagus | HGIN | regulation of protein ubiquitination | 64/2587 | 210/18723 | 3.02e-10 | 2.71e-08 | 64 |
GO:190382926 | Esophagus | HGIN | positive regulation of cellular protein localization | 75/2587 | 276/18723 | 3.19e-09 | 2.30e-07 | 75 |
GO:190332127 | Esophagus | HGIN | negative regulation of protein modification by small protein conjugation or removal | 33/2587 | 95/18723 | 2.07e-07 | 9.95e-06 | 33 |
GO:003139727 | Esophagus | HGIN | negative regulation of protein ubiquitination | 30/2587 | 83/18723 | 2.72e-07 | 1.28e-05 | 30 |
GO:00182057 | Esophagus | HGIN | peptidyl-lysine modification | 88/2587 | 376/18723 | 2.99e-07 | 1.39e-05 | 88 |
GO:003133425 | Esophagus | HGIN | positive regulation of protein-containing complex assembly | 61/2587 | 237/18723 | 7.10e-07 | 3.00e-05 | 61 |
GO:00330449 | Esophagus | HGIN | regulation of chromosome organization | 51/2587 | 187/18723 | 8.91e-07 | 3.61e-05 | 51 |
GO:004325427 | Esophagus | HGIN | regulation of protein-containing complex assembly | 94/2587 | 428/18723 | 2.39e-06 | 8.55e-05 | 94 |
GO:001063920 | Esophagus | HGIN | negative regulation of organelle organization | 79/2587 | 348/18723 | 4.12e-06 | 1.37e-04 | 79 |
GO:000072318 | Esophagus | HGIN | telomere maintenance | 38/2587 | 131/18723 | 4.38e-06 | 1.42e-04 | 38 |
GO:003220416 | Esophagus | HGIN | regulation of telomere maintenance | 27/2587 | 80/18723 | 4.83e-06 | 1.56e-04 | 27 |
GO:005105214 | Esophagus | HGIN | regulation of DNA metabolic process | 79/2587 | 359/18723 | 1.38e-05 | 3.85e-04 | 79 |
GO:005109825 | Esophagus | HGIN | regulation of binding | 78/2587 | 363/18723 | 3.73e-05 | 9.30e-04 | 78 |
GO:19048167 | Esophagus | HGIN | positive regulation of protein localization to chromosome, telomeric region | 8/2587 | 12/18723 | 3.87e-05 | 9.59e-04 | 8 |
GO:007189710 | Esophagus | HGIN | DNA biosynthetic process | 44/2587 | 180/18723 | 8.97e-05 | 1.96e-03 | 44 |
GO:00169254 | Esophagus | HGIN | protein sumoylation | 18/2587 | 53/18723 | 1.64e-04 | 3.19e-03 | 18 |
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 |