GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
GO:003497612 | Liver | HCC | response to endoplasmic reticulum stress | 189/7958 | 256/18723 | 1.43e-24 | 4.06e-22 | 189 |
GO:003650311 | Liver | HCC | ERAD pathway | 88/7958 | 107/18723 | 2.87e-17 | 2.85e-15 | 88 |
GO:00304331 | Liver | HCC | ubiquitin-dependent ERAD pathway | 72/7958 | 85/18723 | 9.78e-16 | 7.47e-14 | 72 |
GO:001063912 | Liver | HCC | negative regulation of organelle organization | 204/7958 | 348/18723 | 7.67e-10 | 2.37e-08 | 204 |
GO:0045786 | Liver | HCC | negative regulation of cell cycle | 204/7958 | 385/18723 | 1.84e-05 | 1.99e-04 | 204 |
GO:0031023 | Liver | HCC | microtubule organizing center organization | 82/7958 | 143/18723 | 2.38e-04 | 1.79e-03 | 82 |
GO:0007098 | Liver | HCC | centrosome cycle | 75/7958 | 130/18723 | 3.33e-04 | 2.34e-03 | 75 |
GO:0010948 | Liver | HCC | negative regulation of cell cycle process | 152/7958 | 294/18723 | 8.50e-04 | 5.08e-03 | 152 |
GO:0032886 | Liver | HCC | regulation of microtubule-based process | 123/7958 | 240/18723 | 3.69e-03 | 1.64e-02 | 123 |
GO:00466052 | Liver | HCC | regulation of centrosome cycle | 30/7958 | 49/18723 | 6.31e-03 | 2.57e-02 | 30 |
GO:00514946 | Liver | HCC | negative regulation of cytoskeleton organization | 84/7958 | 163/18723 | 1.22e-02 | 4.43e-02 | 84 |
GO:0010498113 | Thyroid | PTC | proteasomal protein catabolic process | 297/5968 | 490/18723 | 4.58e-40 | 9.63e-37 | 297 |
GO:0043161113 | Thyroid | PTC | proteasome-mediated ubiquitin-dependent protein catabolic process | 254/5968 | 412/18723 | 3.91e-36 | 4.54e-33 | 254 |
GO:0034976113 | Thyroid | PTC | response to endoplasmic reticulum stress | 161/5968 | 256/18723 | 1.14e-24 | 3.27e-22 | 161 |
GO:00365038 | Thyroid | PTC | ERAD pathway | 71/5968 | 107/18723 | 2.37e-13 | 1.22e-11 | 71 |
GO:003043315 | Thyroid | PTC | ubiquitin-dependent ERAD pathway | 59/5968 | 85/18723 | 1.30e-12 | 5.91e-11 | 59 |
GO:0010639112 | Thyroid | PTC | negative regulation of organelle organization | 163/5968 | 348/18723 | 3.04e-09 | 8.39e-08 | 163 |
GO:00457867 | Thyroid | PTC | negative regulation of cell cycle | 166/5968 | 385/18723 | 1.93e-06 | 2.64e-05 | 166 |
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 |
TMEM67 | SNV | Missense_Mutation | novel | c.141G>T | p.Glu47Asp | p.E47D | Q5HYA8 | protein_coding | tolerated(0.24) | benign(0.019) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TMEM67 | SNV | Missense_Mutation | novel | c.562N>A | p.Glu188Lys | p.E188K | Q5HYA8 | protein_coding | tolerated(0.75) | benign(0.082) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM67 | SNV | Missense_Mutation | novel | c.1238T>C | p.Val413Ala | p.V413A | Q5HYA8 | protein_coding | deleterious(0) | possibly_damaging(0.45) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
TMEM67 | deletion | Frame_Shift_Del | novel | c.338delA | p.Asn113ThrfsTer9 | p.N113Tfs*9 | Q5HYA8 | protein_coding | | | TCGA-AP-A1DP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | paclitaxel | PD |
TMEM67 | insertion | Frame_Shift_Ins | novel | c.2084_2085insTATCACAAGAA | p.Leu696IlefsTer16 | p.L696Ifs*16 | Q5HYA8 | protein_coding | | | TCGA-D1-A0ZU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
TMEM67 | SNV | Missense_Mutation | | c.1342N>A | p.Val448Ile | p.V448I | Q5HYA8 | protein_coding | tolerated(0.3) | benign(0.003) | TCGA-UB-A7MB-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Targeted Molecular therapy | sorafenib | PD |
TMEM67 | SNV | Missense_Mutation | rs138508720 | c.2197N>C | p.Tyr733His | p.Y733H | Q5HYA8 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-05-4398-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
TMEM67 | SNV | Missense_Mutation | | c.1148N>G | p.Ser383Cys | p.S383C | Q5HYA8 | protein_coding | deleterious(0) | possibly_damaging(0.792) | TCGA-55-8085-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
TMEM67 | SNV | Missense_Mutation | novel | c.23N>T | p.Gly8Val | p.G8V | Q5HYA8 | protein_coding | tolerated_low_confidence(0.43) | benign(0) | TCGA-64-1677-01 | Lung | lung adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | gemcitabine | PD |
TMEM67 | SNV | Missense_Mutation | | c.1841G>C | p.Gly614Ala | p.G614A | Q5HYA8 | protein_coding | tolerated(0.49) | benign(0.015) | TCGA-75-6211-01 | Lung | lung adenocarcinoma | Female | Unknown | I/II | Unknown | Unknown | PD |