GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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:0031396111 | Esophagus | ESCC | regulation of protein ubiquitination | 154/8552 | 210/18723 | 2.70e-16 | 2.04e-14 | 154 |
GO:190332216 | Esophagus | ESCC | positive regulation of protein modification by small protein conjugation or removal | 99/8552 | 138/18723 | 4.39e-10 | 1.16e-08 | 99 |
GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
GO:003139816 | Esophagus | ESCC | positive regulation of protein ubiquitination | 82/8552 | 119/18723 | 2.41e-07 | 3.64e-06 | 82 |
GO:190211514 | Esophagus | ESCC | regulation of organelle assembly | 116/8552 | 186/18723 | 3.15e-06 | 3.53e-05 | 116 |
GO:00319294 | Esophagus | ESCC | TOR signaling | 79/8552 | 126/18723 | 8.57e-05 | 6.21e-04 | 79 |
GO:006049118 | Esophagus | ESCC | regulation of cell projection assembly | 110/8552 | 188/18723 | 2.60e-04 | 1.58e-03 | 110 |
GO:012003218 | Esophagus | ESCC | regulation of plasma membrane bounded cell projection assembly | 108/8552 | 186/18723 | 4.37e-04 | 2.46e-03 | 108 |
GO:00320061 | Esophagus | ESCC | regulation of TOR signaling | 63/8552 | 104/18723 | 1.55e-03 | 7.29e-03 | 63 |
GO:190211611 | Esophagus | ESCC | negative regulation of organelle assembly | 28/8552 | 41/18723 | 2.88e-03 | 1.21e-02 | 28 |
GO:004308715 | Esophagus | ESCC | regulation of GTPase activity | 183/8552 | 348/18723 | 5.34e-03 | 2.00e-02 | 183 |
GO:190332022 | Liver | HCC | regulation of protein modification by small protein conjugation or removal | 167/7958 | 242/18723 | 4.99e-17 | 4.72e-15 | 167 |
GO:003139622 | Liver | HCC | regulation of protein ubiquitination | 142/7958 | 210/18723 | 1.39e-13 | 7.81e-12 | 142 |
GO:001063912 | Liver | HCC | negative regulation of organelle organization | 204/7958 | 348/18723 | 7.67e-10 | 2.37e-08 | 204 |
GO:19033221 | Liver | HCC | positive regulation of protein modification by small protein conjugation or removal | 94/7958 | 138/18723 | 9.87e-10 | 3.01e-08 | 94 |
GO:00313981 | Liver | HCC | positive regulation of protein ubiquitination | 79/7958 | 119/18723 | 1.18e-07 | 2.26e-06 | 79 |
GO:19021151 | Liver | HCC | regulation of organelle assembly | 110/7958 | 186/18723 | 3.30e-06 | 4.34e-05 | 110 |
GO:00319291 | Liver | HCC | TOR signaling | 78/7958 | 126/18723 | 8.49e-06 | 9.97e-05 | 78 |
GO:0032006 | Liver | HCC | regulation of TOR signaling | 63/7958 | 104/18723 | 1.50e-04 | 1.20e-03 | 63 |
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 |
TBC1D7 | SNV | Missense_Mutation | novel | c.319G>A | p.Val107Ile | p.V107I | Q9P0N9 | protein_coding | tolerated(0.45) | benign(0.003) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TBC1D7 | SNV | Missense_Mutation | | c.76N>C | p.Lys26Gln | p.K26Q | Q9P0N9 | protein_coding | deleterious(0) | benign(0.047) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TBC1D7 | SNV | Missense_Mutation | rs372789529 | c.448N>A | p.Asp150Asn | p.D150N | Q9P0N9 | protein_coding | deleterious(0) | possibly_damaging(0.866) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D7 | SNV | Missense_Mutation | | c.28N>T | p.Arg10Cys | p.R10C | Q9P0N9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D7 | SNV | Missense_Mutation | rs755946421 | c.75G>T | p.Lys25Asn | p.K25N | Q9P0N9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A16Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D7 | SNV | Missense_Mutation | rs755946421 | c.75N>T | p.Lys25Asn | p.K25N | Q9P0N9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D7 | SNV | Missense_Mutation | | c.362N>A | p.Arg121Gln | p.R121Q | Q9P0N9 | protein_coding | tolerated(0.29) | benign(0.005) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
TBC1D7 | SNV | Missense_Mutation | | c.20N>T | p.Arg7Ile | p.R7I | Q9P0N9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
TBC1D7 | SNV | Missense_Mutation | novel | c.487N>C | p.Asn163His | p.N163H | Q9P0N9 | protein_coding | tolerated(0.59) | benign(0.001) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D7 | SNV | Missense_Mutation | | c.362N>A | p.Arg121Gln | p.R121Q | Q9P0N9 | protein_coding | tolerated(0.29) | benign(0.005) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |