GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00458617 | Liver | NAFLD | negative regulation of proteolysis | 66/1882 | 351/18723 | 4.02e-07 | 2.58e-05 | 66 |
GO:00513467 | Liver | NAFLD | negative regulation of hydrolase activity | 62/1882 | 379/18723 | 8.11e-05 | 1.66e-03 | 62 |
GO:00525477 | Liver | NAFLD | regulation of peptidase activity | 72/1882 | 461/18723 | 1.03e-04 | 2.03e-03 | 72 |
GO:00525487 | Liver | NAFLD | regulation of endopeptidase activity | 67/1882 | 432/18723 | 2.17e-04 | 3.70e-03 | 67 |
GO:00109517 | Liver | NAFLD | negative regulation of endopeptidase activity | 42/1882 | 252/18723 | 7.29e-04 | 9.29e-03 | 42 |
GO:00104667 | Liver | NAFLD | negative regulation of peptidase activity | 43/1882 | 262/18723 | 8.76e-04 | 1.07e-02 | 43 |
GO:005254712 | Liver | Cirrhotic | regulation of peptidase activity | 185/4634 | 461/18723 | 1.32e-13 | 1.09e-11 | 185 |
GO:005254812 | Liver | Cirrhotic | regulation of endopeptidase activity | 172/4634 | 432/18723 | 2.12e-12 | 1.58e-10 | 172 |
GO:004586112 | Liver | Cirrhotic | negative regulation of proteolysis | 136/4634 | 351/18723 | 3.46e-09 | 1.42e-07 | 136 |
GO:005134612 | Liver | Cirrhotic | negative regulation of hydrolase activity | 139/4634 | 379/18723 | 1.24e-07 | 3.42e-06 | 139 |
GO:001095111 | Liver | Cirrhotic | negative regulation of endopeptidase activity | 98/4634 | 252/18723 | 4.19e-07 | 9.77e-06 | 98 |
GO:001046612 | Liver | Cirrhotic | negative regulation of peptidase activity | 100/4634 | 262/18723 | 8.90e-07 | 1.84e-05 | 100 |
GO:005254722 | Liver | HCC | regulation of peptidase activity | 247/7958 | 461/18723 | 8.28e-07 | 1.27e-05 | 247 |
GO:005254822 | Liver | HCC | regulation of endopeptidase activity | 230/7958 | 432/18723 | 3.58e-06 | 4.68e-05 | 230 |
GO:004586122 | Liver | HCC | negative regulation of proteolysis | 186/7958 | 351/18723 | 4.19e-05 | 4.11e-04 | 186 |
GO:005134622 | Liver | HCC | negative regulation of hydrolase activity | 195/7958 | 379/18723 | 2.44e-04 | 1.82e-03 | 195 |
GO:001095121 | Liver | HCC | negative regulation of endopeptidase activity | 129/7958 | 252/18723 | 3.17e-03 | 1.47e-02 | 129 |
GO:001046621 | Liver | HCC | negative regulation of peptidase activity | 132/7958 | 262/18723 | 5.82e-03 | 2.42e-02 | 132 |
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 |
ITIH2 | SNV | Missense_Mutation | novel | c.1244N>C | p.Leu415Pro | p.L415P | P19823 | protein_coding | deleterious(0) | probably_damaging(0.958) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITIH2 | SNV | Missense_Mutation | novel | c.260C>T | p.Thr87Ile | p.T87I | P19823 | protein_coding | deleterious(0) | benign(0.442) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ITIH2 | SNV | Missense_Mutation | rs185942404 | c.1067G>A | p.Arg356Gln | p.R356Q | P19823 | protein_coding | tolerated(0.14) | probably_damaging(1) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
ITIH2 | insertion | Nonsense_Mutation | novel | c.319_320insGTTAAGC | p.Asp107GlyfsTer2 | p.D107Gfs*2 | P19823 | protein_coding | | | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITIH2 | deletion | In_Frame_Del | novel | c.1163_1165delTCA | p.Ile388del | p.I388del | P19823 | protein_coding | | | TCGA-AX-A2HK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
ITIH2 | insertion | Frame_Shift_Ins | novel | c.1278_1279+2dupGGGC | | | P19823 | protein_coding | | | TCGA-BG-A0MQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITIH2 | SNV | Missense_Mutation | | c.189N>T | p.Met63Ile | p.M63I | P19823 | protein_coding | tolerated(0.21) | benign(0) | TCGA-2Y-A9GU-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITIH2 | deletion | Frame_Shift_Del | novel | c.1538delN | p.Val513AlafsTer29 | p.V513Afs*29 | P19823 | protein_coding | | | TCGA-BC-A10U-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ITIH2 | deletion | Frame_Shift_Del | novel | c.901delN | p.Pro301LeufsTer17 | p.P301Lfs*17 | P19823 | protein_coding | | | TCGA-DD-A4NR-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITIH2 | SNV | Missense_Mutation | novel | c.622C>T | p.His208Tyr | p.H208Y | P19823 | protein_coding | deleterious(0) | probably_damaging(0.925) | TCGA-05-4249-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |