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.5575N>G | p.Leu1859Val | p.L1859V | O60287 | protein_coding | tolerated(0.18) | benign(0.006) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
URB1 | SNV | Missense_Mutation | | c.6632A>C | p.Gln2211Pro | p.Q2211P | O60287 | protein_coding | deleterious(0.01) | benign(0.024) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | | c.721A>G | p.Asn241Asp | p.N241D | O60287 | protein_coding | deleterious(0.02) | benign(0.386) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | novel | c.3796N>A | p.Asp1266Asn | p.D1266N | O60287 | protein_coding | deleterious(0.02) | benign(0.24) | TCGA-AX-A1C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | novel | c.238N>A | p.Glu80Lys | p.E80K | O60287 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A1C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | novel | c.5551G>T | p.Asp1851Tyr | p.D1851Y | O60287 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
URB1 | SNV | Missense_Mutation | novel | c.4725G>T | p.Lys1575Asn | p.K1575N | O60287 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
URB1 | SNV | Missense_Mutation | novel | c.3535G>A | p.Glu1179Lys | p.E1179K | O60287 | protein_coding | deleterious(0.05) | benign(0.097) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
URB1 | SNV | Missense_Mutation | novel | c.4588N>A | p.Leu1530Ile | p.L1530I | O60287 | protein_coding | deleterious(0.01) | possibly_damaging(0.887) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
URB1 | SNV | Missense_Mutation | novel | c.1009N>C | p.Asn337His | p.N337H | O60287 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |