GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022613113 | Thyroid | PTC | ribonucleoprotein complex biogenesis | 292/5968 | 463/18723 | 3.24e-44 | 2.05e-40 | 292 |
GO:0042254113 | Thyroid | PTC | ribosome biogenesis | 202/5968 | 299/18723 | 3.47e-37 | 5.47e-34 | 202 |
GO:0006364112 | Thyroid | PTC | rRNA processing | 156/5968 | 225/18723 | 5.58e-31 | 5.03e-28 | 156 |
GO:0016072112 | Thyroid | PTC | rRNA metabolic process | 160/5968 | 236/18723 | 5.68e-30 | 3.58e-27 | 160 |
GO:003447018 | Thyroid | PTC | ncRNA processing | 215/5968 | 395/18723 | 7.14e-21 | 1.22e-18 | 215 |
GO:00346608 | Thyroid | PTC | ncRNA metabolic process | 239/5968 | 485/18723 | 5.54e-16 | 4.26e-14 | 239 |
GO:00311235 | Thyroid | PTC | RNA 3'-end processing | 65/5968 | 116/18723 | 6.24e-08 | 1.30e-06 | 65 |
GO:00004695 | Thyroid | PTC | cleavage involved in rRNA processing | 21/5968 | 27/18723 | 1.24e-06 | 1.79e-05 | 21 |
GO:00905015 | Thyroid | PTC | RNA phosphodiester bond hydrolysis | 76/5968 | 152/18723 | 2.40e-06 | 3.17e-05 | 76 |
GO:00004605 | Thyroid | PTC | maturation of 5.8S rRNA | 24/5968 | 35/18723 | 9.08e-06 | 1.03e-04 | 24 |
GO:00905035 | Thyroid | PTC | RNA phosphodiester bond hydrolysis, exonucleolytic | 27/5968 | 42/18723 | 1.58e-05 | 1.67e-04 | 27 |
GO:00004665 | Thyroid | PTC | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 15/5968 | 24/18723 | 1.95e-03 | 1.05e-02 | 15 |
GO:00311253 | Thyroid | PTC | rRNA 3'-end processing | 8/5968 | 10/18723 | 2.46e-03 | 1.27e-02 | 8 |
GO:00903055 | Thyroid | PTC | nucleic acid phosphodiester bond hydrolysis | 105/5968 | 261/18723 | 2.53e-03 | 1.31e-02 | 105 |
GO:002261334 | Thyroid | ATC | ribonucleoprotein complex biogenesis | 292/6293 | 463/18723 | 3.05e-39 | 9.63e-36 | 292 |
GO:004225434 | Thyroid | ATC | ribosome biogenesis | 203/6293 | 299/18723 | 3.63e-34 | 4.59e-31 | 203 |
GO:000636432 | Thyroid | ATC | rRNA processing | 157/6293 | 225/18723 | 9.02e-29 | 5.70e-26 | 157 |
GO:001607232 | Thyroid | ATC | rRNA metabolic process | 161/6293 | 236/18723 | 1.02e-27 | 5.89e-25 | 161 |
GO:003447021 | Thyroid | ATC | ncRNA processing | 216/6293 | 395/18723 | 3.14e-18 | 3.98e-16 | 216 |
GO:003466021 | Thyroid | ATC | ncRNA metabolic process | 240/6293 | 485/18723 | 2.03e-13 | 9.91e-12 | 240 |
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 |
ERI1 | SNV | Missense_Mutation | | c.588N>T | p.Gln196His | p.Q196H | Q8IV48 | protein_coding | tolerated(0.17) | possibly_damaging(0.46) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERI1 | SNV | Missense_Mutation | | c.614N>G | p.Gln205Arg | p.Q205R | Q8IV48 | protein_coding | tolerated(0.24) | benign(0.208) | TCGA-BG-A0MQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ERI1 | SNV | Missense_Mutation | rs748396027 | c.781N>T | p.Arg261Trp | p.R261W | Q8IV48 | protein_coding | deleterious(0) | benign(0.398) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERI1 | SNV | Missense_Mutation | novel | c.860A>C | p.Asp287Ala | p.D287A | Q8IV48 | protein_coding | tolerated(0.37) | benign(0.007) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ERI1 | insertion | Frame_Shift_Ins | novel | c.982_983insATAAAGC | p.Met328AsnfsTer23 | p.M328Nfs*23 | Q8IV48 | protein_coding | | | TCGA-BG-A0MS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ERI1 | SNV | Missense_Mutation | | c.277C>G | p.Leu93Val | p.L93V | Q8IV48 | protein_coding | tolerated(0.07) | benign(0.342) | TCGA-G3-A3CJ-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Targeted Molecular therapy | sorafenib | PD |
ERI1 | SNV | Missense_Mutation | | c.1027C>A | p.Gln343Lys | p.Q343K | Q8IV48 | protein_coding | deleterious_low_confidence(0.03) | benign(0.036) | TCGA-66-2768-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ERI1 | SNV | Missense_Mutation | novel | c.317N>A | p.Leu106Gln | p.L106Q | Q8IV48 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BA-A4II-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
ERI1 | SNV | Missense_Mutation | novel | c.370G>T | p.Asp124Tyr | p.D124Y | Q8IV48 | protein_coding | deleterious(0.01) | benign(0.047) | TCGA-CV-6934-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ERI1 | SNV | Missense_Mutation | | c.434C>T | p.Pro145Leu | p.P145L | Q8IV48 | protein_coding | tolerated(0.13) | benign(0.007) | TCGA-BR-4257-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |