GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00160535 | Liver | NAFLD | organic acid biosynthetic process | 77/1882 | 316/18723 | 1.03e-13 | 6.69e-11 | 77 |
GO:00463945 | Liver | NAFLD | carboxylic acid biosynthetic process | 75/1882 | 314/18723 | 6.37e-13 | 3.39e-10 | 75 |
GO:00485457 | Liver | NAFLD | response to steroid hormone | 75/1882 | 339/18723 | 3.44e-11 | 1.12e-08 | 75 |
GO:00713755 | Liver | NAFLD | cellular response to peptide hormone stimulus | 65/1882 | 290/18723 | 3.95e-10 | 9.62e-08 | 65 |
GO:00065203 | Liver | NAFLD | cellular amino acid metabolic process | 63/1882 | 284/18723 | 1.14e-09 | 2.17e-07 | 63 |
GO:00442425 | Liver | NAFLD | cellular lipid catabolic process | 52/1882 | 214/18723 | 1.15e-09 | 2.17e-07 | 52 |
GO:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:00086523 | Liver | NAFLD | cellular amino acid biosynthetic process | 26/1882 | 76/18723 | 1.00e-08 | 1.33e-06 | 26 |
GO:19016536 | Liver | NAFLD | cellular response to peptide | 71/1882 | 359/18723 | 1.82e-08 | 2.09e-06 | 71 |
GO:19016053 | Liver | NAFLD | alpha-amino acid metabolic process | 46/1882 | 195/18723 | 2.74e-08 | 2.86e-06 | 46 |
GO:00610087 | Liver | NAFLD | hepaticobiliary system development | 38/1882 | 150/18723 | 5.94e-08 | 5.42e-06 | 38 |
GO:00316677 | Liver | NAFLD | response to nutrient levels | 85/1882 | 474/18723 | 8.23e-08 | 7.09e-06 | 85 |
GO:00066413 | Liver | NAFLD | triglyceride metabolic process | 29/1882 | 100/18723 | 9.51e-08 | 7.62e-06 | 29 |
GO:00018897 | Liver | NAFLD | liver development | 37/1882 | 147/18723 | 1.06e-07 | 8.12e-06 | 37 |
GO:00160426 | Liver | NAFLD | lipid catabolic process | 63/1882 | 320/18723 | 1.35e-07 | 1.02e-05 | 63 |
GO:00434346 | Liver | NAFLD | response to peptide hormone | 76/1882 | 414/18723 | 1.51e-07 | 1.09e-05 | 76 |
GO:00513846 | Liver | NAFLD | response to glucocorticoid | 36/1882 | 148/18723 | 3.88e-07 | 2.52e-05 | 36 |
GO:19016073 | Liver | NAFLD | alpha-amino acid biosynthetic process | 22/1882 | 68/18723 | 4.13e-07 | 2.62e-05 | 22 |
GO:00066392 | Liver | NAFLD | acylglycerol metabolic process | 32/1882 | 128/18723 | 8.82e-07 | 4.60e-05 | 32 |
GO:00066382 | Liver | NAFLD | neutral lipid metabolic process | 32/1882 | 129/18723 | 1.06e-06 | 5.35e-05 | 32 |
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 |
CPS1 | SNV | Missense_Mutation | novel | c.2426N>A | p.Arg809His | p.R809H | P31327 | protein_coding | deleterious(0) | possibly_damaging(0.542) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | | c.3416N>C | p.Val1139Ala | p.V1139A | P31327 | protein_coding | deleterious(0.03) | probably_damaging(0.981) | TCGA-BG-A0MQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | novel | c.1404N>T | p.Met468Ile | p.M468I | P31327 | protein_coding | tolerated(1) | benign(0.02) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | rs187860166 | c.1454C>T | p.Ala485Val | p.A485V | P31327 | protein_coding | deleterious(0.01) | benign(0.329) | TCGA-BS-A0TA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
CPS1 | SNV | Missense_Mutation | rs756163174 | c.2878G>T | p.Val960Leu | p.V960L | P31327 | protein_coding | tolerated(0.64) | benign(0.005) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | | c.3825G>T | p.Lys1275Asn | p.K1275N | P31327 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | | c.4375C>T | p.Arg1459Trp | p.R1459W | P31327 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | rs772782772 | c.2458N>T | p.Arg820Trp | p.R820W | P31327 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A1O7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | novel | c.538C>T | p.Arg180Trp | p.R180W | P31327 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CPS1 | SNV | Missense_Mutation | | c.2171G>T | p.Arg724Ile | p.R724I | P31327 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | sodium phenylbutyrate | | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | Polidocanol - BioForm Medical/Chemische Fabrik Kreussler & Co | | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | positive modulator | CHEMBL1201780 | CARGLUMIC ACID | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | sodium benzoate / sodium phenylacetate | | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | l-methionine | METHIONINE | 24651765 |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | valproic acid | | 20456087 |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | Sodium Phenylbutyrate | | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | Carglumic acid | | |
1373 | CPS1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | antiepileptics | | 20456087 |