GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000915013 | Lung | AIS | purine ribonucleotide metabolic process | 58/1849 | 368/18723 | 2.33e-04 | 4.68e-03 | 58 |
GO:000925913 | Lung | AIS | ribonucleotide metabolic process | 59/1849 | 385/18723 | 4.36e-04 | 7.41e-03 | 59 |
GO:000616313 | Lung | AIS | purine nucleotide metabolic process | 59/1849 | 396/18723 | 8.91e-04 | 1.20e-02 | 59 |
GO:001969313 | Lung | AIS | ribose phosphate metabolic process | 59/1849 | 396/18723 | 8.91e-04 | 1.20e-02 | 59 |
GO:007252113 | Lung | AIS | purine-containing compound metabolic process | 61/1849 | 416/18723 | 1.10e-03 | 1.42e-02 | 61 |
GO:003465524 | Thyroid | HT | nucleobase-containing compound catabolic process | 45/1272 | 407/18723 | 8.67e-04 | 9.20e-03 | 45 |
GO:004670020 | Thyroid | HT | heterocycle catabolic process | 47/1272 | 445/18723 | 1.76e-03 | 1.58e-02 | 47 |
GO:001943920 | Thyroid | HT | aromatic compound catabolic process | 48/1272 | 467/18723 | 2.74e-03 | 2.25e-02 | 48 |
GO:190136120 | Thyroid | HT | organic cyclic compound catabolic process | 50/1272 | 495/18723 | 3.22e-03 | 2.55e-02 | 50 |
GO:004427024 | Thyroid | HT | cellular nitrogen compound catabolic process | 46/1272 | 451/18723 | 3.83e-03 | 2.84e-02 | 46 |
GO:0034655112 | Thyroid | PTC | nucleobase-containing compound catabolic process | 211/5968 | 407/18723 | 2.72e-17 | 2.52e-15 | 211 |
GO:0046700111 | Thyroid | PTC | heterocycle catabolic process | 221/5968 | 445/18723 | 2.43e-15 | 1.72e-13 | 221 |
GO:0044270111 | Thyroid | PTC | cellular nitrogen compound catabolic process | 223/5968 | 451/18723 | 3.34e-15 | 2.31e-13 | 223 |
GO:0019439111 | Thyroid | PTC | aromatic compound catabolic process | 225/5968 | 467/18723 | 8.51e-14 | 4.71e-12 | 225 |
GO:1901361111 | Thyroid | PTC | organic cyclic compound catabolic process | 231/5968 | 495/18723 | 2.55e-12 | 1.12e-10 | 231 |
GO:001969327 | Thyroid | PTC | ribose phosphate metabolic process | 176/5968 | 396/18723 | 8.28e-08 | 1.70e-06 | 176 |
GO:000915028 | Thyroid | PTC | purine ribonucleotide metabolic process | 165/5968 | 368/18723 | 1.03e-07 | 2.05e-06 | 165 |
GO:007252127 | Thyroid | PTC | purine-containing compound metabolic process | 182/5968 | 416/18723 | 1.92e-07 | 3.51e-06 | 182 |
GO:000925927 | Thyroid | PTC | ribonucleotide metabolic process | 170/5968 | 385/18723 | 2.32e-07 | 4.08e-06 | 170 |
GO:000616327 | Thyroid | PTC | purine nucleotide metabolic process | 170/5968 | 396/18723 | 2.02e-06 | 2.75e-05 | 170 |
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 |
PDE8B | SNV | Missense_Mutation | rs771473616 | c.2193N>C | p.Lys731Asn | p.K731N | O95263 | protein_coding | deleterious(0.03) | possibly_damaging(0.587) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PDE8B | SNV | Missense_Mutation | novel | c.1372A>C | p.Asn458His | p.N458H | O95263 | protein_coding | deleterious(0.01) | possibly_damaging(0.632) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PDE8B | SNV | Missense_Mutation | novel | c.2499N>T | p.Gln833His | p.Q833H | O95263 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PDE8B | SNV | Missense_Mutation | | c.1832C>A | p.Ser611Tyr | p.S611Y | O95263 | protein_coding | deleterious(0.01) | possibly_damaging(0.707) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PDE8B | SNV | Missense_Mutation | novel | c.2632N>C | p.Ser878Arg | p.S878R | O95263 | protein_coding | deleterious(0) | benign(0.258) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
PDE8B | SNV | Missense_Mutation | rs144671246 | c.874N>G | p.Gln292Glu | p.Q292E | O95263 | protein_coding | deleterious(0.01) | possibly_damaging(0.877) | TCGA-EY-A1GS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | taxol | PD |
PDE8B | SNV | Missense_Mutation | rs535530044 | c.487N>T | p.Arg163Trp | p.R163W | O95263 | protein_coding | deleterious(0.01) | benign(0.117) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PDE8B | SNV | Missense_Mutation | | c.2419N>G | p.Thr807Ala | p.T807A | O95263 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PDE8B | SNV | Missense_Mutation | novel | c.2573T>A | p.Met858Lys | p.M858K | O95263 | protein_coding | deleterious(0) | possibly_damaging(0.89) | TCGA-5R-AAAM-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PDE8B | SNV | Missense_Mutation | novel | c.371C>T | p.Pro124Leu | p.P124L | O95263 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-44-2656-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD |