GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:20012513 | Esophagus | ESCC | negative regulation of chromosome organization | 60/8552 | 86/18723 | 5.20e-06 | 5.45e-05 | 60 |
GO:007019815 | Esophagus | ESCC | protein localization to chromosome, telomeric region | 25/8552 | 29/18723 | 7.24e-06 | 7.20e-05 | 25 |
GO:003220014 | Esophagus | ESCC | telomere organization | 99/8552 | 159/18723 | 1.77e-05 | 1.57e-04 | 99 |
GO:190481616 | Esophagus | ESCC | positive regulation of protein localization to chromosome, telomeric region | 12/8552 | 12/18723 | 8.21e-05 | 6.01e-04 | 12 |
GO:190481415 | Esophagus | ESCC | regulation of protein localization to chromosome, telomeric region | 13/8552 | 14/18723 | 3.02e-04 | 1.81e-03 | 13 |
GO:00322052 | Esophagus | ESCC | negative regulation of telomere maintenance | 24/8552 | 35/18723 | 5.25e-03 | 1.97e-02 | 24 |
GO:00332331 | Esophagus | ESCC | regulation of protein sumoylation | 18/8552 | 25/18723 | 7.04e-03 | 2.56e-02 | 18 |
GO:002261322 | Liver | HCC | ribonucleoprotein complex biogenesis | 355/7958 | 463/18723 | 7.76e-52 | 4.92e-48 | 355 |
GO:004225422 | Liver | HCC | ribosome biogenesis | 246/7958 | 299/18723 | 4.99e-46 | 1.58e-42 | 246 |
GO:190382922 | Liver | HCC | positive regulation of cellular protein localization | 199/7958 | 276/18723 | 1.15e-23 | 2.62e-21 | 199 |
GO:003164722 | Liver | HCC | regulation of protein stability | 211/7958 | 298/18723 | 2.29e-23 | 5.01e-21 | 211 |
GO:190332022 | Liver | HCC | regulation of protein modification by small protein conjugation or removal | 167/7958 | 242/18723 | 4.99e-17 | 4.72e-15 | 167 |
GO:004325422 | Liver | HCC | regulation of protein-containing complex assembly | 264/7958 | 428/18723 | 5.47e-16 | 4.39e-14 | 264 |
GO:005109822 | Liver | HCC | regulation of binding | 225/7958 | 363/18723 | 3.78e-14 | 2.37e-12 | 225 |
GO:003139622 | Liver | HCC | regulation of protein ubiquitination | 142/7958 | 210/18723 | 1.39e-13 | 7.81e-12 | 142 |
GO:00182052 | Liver | HCC | peptidyl-lysine modification | 230/7958 | 376/18723 | 1.51e-13 | 8.32e-12 | 230 |
GO:003304421 | Liver | HCC | regulation of chromosome organization | 125/7958 | 187/18723 | 1.35e-11 | 5.40e-10 | 125 |
GO:004339322 | Liver | HCC | regulation of protein binding | 129/7958 | 196/18723 | 3.27e-11 | 1.26e-09 | 129 |
GO:003133412 | Liver | HCC | positive regulation of protein-containing complex assembly | 150/7958 | 237/18723 | 7.35e-11 | 2.63e-09 | 150 |
GO:001063912 | Liver | HCC | negative regulation of organelle organization | 204/7958 | 348/18723 | 7.67e-10 | 2.37e-08 | 204 |
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 |