GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004227310 | Cervix | CC | ribosomal large subunit biogenesis | 26/2311 | 72/18723 | 1.87e-07 | 8.48e-06 | 26 |
GO:002261310 | Cervix | CC | ribonucleoprotein complex biogenesis | 88/2311 | 463/18723 | 2.11e-05 | 3.82e-04 | 88 |
GO:004225410 | Cervix | CC | ribosome biogenesis | 62/2311 | 299/18723 | 2.48e-05 | 4.27e-04 | 62 |
GO:00160727 | Cervix | CC | rRNA metabolic process | 42/2311 | 236/18723 | 9.12e-03 | 4.60e-02 | 42 |
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:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:0042273111 | Esophagus | ESCC | ribosomal large subunit biogenesis | 65/8552 | 72/18723 | 1.53e-15 | 9.82e-14 | 65 |
GO:000047016 | Esophagus | ESCC | maturation of LSU-rRNA | 27/8552 | 28/18723 | 9.94e-09 | 2.00e-07 | 27 |
GO:00004603 | Esophagus | ESCC | maturation of 5.8S rRNA | 30/8552 | 35/18723 | 1.07e-06 | 1.34e-05 | 30 |
GO:00004634 | Esophagus | ESCC | maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 15/8552 | 15/18723 | 7.81e-06 | 7.69e-05 | 15 |
GO:00004663 | Esophagus | ESCC | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 21/8552 | 24/18723 | 2.57e-05 | 2.17e-04 | 21 |
GO:00226137 | Liver | NAFLD | ribonucleoprotein complex biogenesis | 76/1882 | 463/18723 | 1.19e-05 | 3.67e-04 | 76 |
GO:00422737 | Liver | NAFLD | ribosomal large subunit biogenesis | 20/1882 | 72/18723 | 1.83e-05 | 5.29e-04 | 20 |
GO:00422547 | Liver | NAFLD | ribosome biogenesis | 52/1882 | 299/18723 | 6.03e-05 | 1.32e-03 | 52 |
GO:00344704 | Liver | NAFLD | ncRNA processing | 57/1882 | 395/18723 | 3.34e-03 | 2.93e-02 | 57 |
GO:00063644 | Liver | NAFLD | rRNA processing | 35/1882 | 225/18723 | 6.04e-03 | 4.54e-02 | 35 |
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 |
URB1 | SNV | Missense_Mutation | novel | c.1010N>C | p.Asn337Thr | p.N337T | O60287 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A1G4-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | adriamycin | SD |
URB1 | SNV | Missense_Mutation | novel | c.4629N>T | p.Lys1543Asn | p.K1543N | O60287 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
URB1 | SNV | Missense_Mutation | rs763947089 | c.5159N>A | p.Arg1720Gln | p.R1720Q | O60287 | protein_coding | tolerated(0.21) | benign(0.011) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | novel | c.307N>A | p.Glu103Lys | p.E103K | O60287 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | | c.593N>C | p.Tyr198Ser | p.Y198S | O60287 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | novel | c.1690N>A | p.Leu564Ile | p.L564I | O60287 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD |
URB1 | SNV | Missense_Mutation | rs372120737 | c.6433G>A | p.Val2145Met | p.V2145M | O60287 | protein_coding | tolerated(0.13) | benign(0.038) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
URB1 | SNV | Missense_Mutation | novel | c.1604N>T | p.Asp535Val | p.D535V | O60287 | protein_coding | deleterious(0.04) | benign(0.006) | TCGA-AR-A2LH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
URB1 | SNV | Missense_Mutation | | c.1766N>G | p.Ser589Cys | p.S589C | O60287 | protein_coding | deleterious(0.02) | possibly_damaging(0.707) | TCGA-BH-A18P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
URB1 | SNV | Missense_Mutation | novel | c.1010A>C | p.Asn337Thr | p.N337T | O60287 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A1F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |