GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:19048147 | Esophagus | HGIN | regulation of protein localization to chromosome, telomeric region | 8/2587 | 14/18723 | 1.81e-04 | 3.45e-03 | 8 |
GO:00701987 | Esophagus | HGIN | protein localization to chromosome, telomeric region | 12/2587 | 29/18723 | 2.48e-04 | 4.38e-03 | 12 |
GO:000700417 | Esophagus | HGIN | telomere maintenance via telomerase | 21/2587 | 69/18723 | 2.80e-04 | 4.80e-03 | 21 |
GO:00322007 | Esophagus | HGIN | telomere organization | 38/2587 | 159/18723 | 4.23e-04 | 6.39e-03 | 38 |
GO:200027819 | Esophagus | HGIN | regulation of DNA biosynthetic process | 28/2587 | 106/18723 | 4.30e-04 | 6.47e-03 | 28 |
GO:001083318 | Esophagus | HGIN | telomere maintenance via telomere lengthening | 23/2587 | 81/18723 | 4.52e-04 | 6.62e-03 | 23 |
GO:000627810 | Esophagus | HGIN | RNA-dependent DNA biosynthetic process | 21/2587 | 75/18723 | 9.58e-04 | 1.21e-02 | 21 |
GO:00345024 | Esophagus | HGIN | protein localization to chromosome | 24/2587 | 92/18723 | 1.29e-03 | 1.54e-02 | 24 |
GO:003209110 | Esophagus | HGIN | negative regulation of protein binding | 23/2587 | 94/18723 | 3.92e-03 | 3.54e-02 | 23 |
GO:005110020 | Esophagus | HGIN | negative regulation of binding | 35/2587 | 162/18723 | 4.32e-03 | 3.84e-02 | 35 |
GO:0033233 | Esophagus | HGIN | regulation of protein sumoylation | 9/2587 | 25/18723 | 4.57e-03 | 3.96e-02 | 9 |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:1903320111 | Esophagus | ESCC | regulation of protein modification by small protein conjugation or removal | 181/8552 | 242/18723 | 1.80e-20 | 2.60e-18 | 181 |
GO:001820514 | Esophagus | ESCC | peptidyl-lysine modification | 259/8552 | 376/18723 | 3.90e-20 | 5.26e-18 | 259 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:1903829111 | Esophagus | ESCC | positive regulation of cellular protein localization | 199/8552 | 276/18723 | 2.99e-19 | 3.45e-17 | 199 |
GO:003304416 | Esophagus | ESCC | regulation of chromosome organization | 145/8552 | 187/18723 | 3.80e-19 | 4.31e-17 | 145 |
GO:0031396111 | Esophagus | ESCC | regulation of protein ubiquitination | 154/8552 | 210/18723 | 2.70e-16 | 2.04e-14 | 154 |
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 |