GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00342493 | Liver | NAFLD | negative regulation of cellular amide metabolic process | 46/1882 | 273/18723 | 3.27e-04 | 5.04e-03 | 46 |
GO:00003777 | Liver | NAFLD | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 51/1882 | 320/18723 | 6.21e-04 | 8.18e-03 | 51 |
GO:00003987 | Liver | NAFLD | mRNA splicing, via spliceosome | 51/1882 | 320/18723 | 6.21e-04 | 8.18e-03 | 51 |
GO:00003757 | Liver | NAFLD | RNA splicing, via transesterification reactions | 51/1882 | 324/18723 | 8.28e-04 | 1.02e-02 | 51 |
GO:00459275 | Liver | NAFLD | positive regulation of growth | 40/1882 | 259/18723 | 4.00e-03 | 3.35e-02 | 40 |
GO:00486384 | Liver | NAFLD | regulation of developmental growth | 48/1882 | 330/18723 | 5.74e-03 | 4.37e-02 | 48 |
GO:000838012 | Liver | Cirrhotic | RNA splicing | 229/4634 | 434/18723 | 9.13e-37 | 2.86e-33 | 229 |
GO:002261312 | Liver | Cirrhotic | ribonucleoprotein complex biogenesis | 231/4634 | 463/18723 | 3.28e-32 | 6.86e-29 | 231 |
GO:000037512 | Liver | Cirrhotic | RNA splicing, via transesterification reactions | 175/4634 | 324/18723 | 5.95e-30 | 7.47e-27 | 175 |
GO:000037712 | Liver | Cirrhotic | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:000039812 | Liver | Cirrhotic | mRNA splicing, via spliceosome | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:000989612 | Liver | Cirrhotic | positive regulation of catabolic process | 215/4634 | 492/18723 | 1.13e-20 | 3.56e-18 | 215 |
GO:190136111 | Liver | Cirrhotic | organic cyclic compound catabolic process | 213/4634 | 495/18723 | 1.58e-19 | 3.67e-17 | 213 |
GO:003133112 | Liver | Cirrhotic | positive regulation of cellular catabolic process | 190/4634 | 427/18723 | 1.94e-19 | 4.18e-17 | 190 |
GO:001943911 | Liver | Cirrhotic | aromatic compound catabolic process | 202/4634 | 467/18723 | 6.93e-19 | 1.28e-16 | 202 |
GO:190331111 | Liver | Cirrhotic | regulation of mRNA metabolic process | 140/4634 | 288/18723 | 1.07e-18 | 1.91e-16 | 140 |
GO:004427011 | Liver | Cirrhotic | cellular nitrogen compound catabolic process | 195/4634 | 451/18723 | 2.99e-18 | 4.94e-16 | 195 |
GO:004670011 | Liver | Cirrhotic | heterocycle catabolic process | 192/4634 | 445/18723 | 7.17e-18 | 1.12e-15 | 192 |
GO:005068411 | Liver | Cirrhotic | regulation of mRNA processing | 81/4634 | 137/18723 | 1.05e-17 | 1.60e-15 | 81 |
GO:004348412 | Liver | Cirrhotic | regulation of RNA splicing | 85/4634 | 148/18723 | 2.03e-17 | 2.83e-15 | 85 |
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 |
CEL | SNV | Missense_Mutation | rs755884951 | c.1709A>G | p.Glu570Gly | p.E570G | | protein_coding | tolerated(0.12) | benign(0) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CEL | SNV | Missense_Mutation | | c.1558N>T | p.Gly520Cys | p.G520C | | protein_coding | tolerated(0.1) | probably_damaging(0.958) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CEL | SNV | Missense_Mutation | rs752422506 | c.1544N>A | p.Thr515Asn | p.T515N | | protein_coding | tolerated(0.16) | benign(0.203) | TCGA-E2-A1IE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
CEL | SNV | Missense_Mutation | rs746397927 | c.994N>A | p.Asp332Asn | p.D332N | | protein_coding | deleterious(0.04) | possibly_damaging(0.562) | TCGA-E9-A1RC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD |
CEL | SNV | Missense_Mutation | novel | c.2149N>A | p.Val717Met | p.V717M | | protein_coding | tolerated_low_confidence(0.08) | benign(0.154) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CEL | SNV | Missense_Mutation | rs760144206 | c.730G>A | p.Gly244Ser | p.G244S | | protein_coding | deleterious(0.01) | probably_damaging(0.968) | TCGA-LP-A4AW-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CEL | SNV | Missense_Mutation | rs201133893 | c.2171N>A | p.Gly724Glu | p.G724E | | protein_coding | tolerated_low_confidence(1) | benign(0.001) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CEL | SNV | Missense_Mutation | rs202034862 | c.2173N>A | p.Ala725Thr | p.A725T | | protein_coding | deleterious_low_confidence(0.02) | benign(0.219) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CEL | SNV | Missense_Mutation | rs202034862 | c.2173G>C | p.Ala725Pro | p.A725P | | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.644) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR |
CEL | SNV | Missense_Mutation | | c.832N>A | p.Ala278Thr | p.A278T | | protein_coding | deleterious(0) | possibly_damaging(0.89) | TCGA-CK-5916-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | Bucelipase alfa | | |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | ACTINOMYCIN D | | 2016288 |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | GENISTEIN | GENISTEIN | 10600647 |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | RESVERATROL | RESVERATROL | 16099206 |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | SIMVASTATIN | SIMVASTATIN | 16955753 |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | GELDANAMYCIN | GELDANAMYCIN | 11104697 |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | BILE SALT STIMULATED LIPASE | | |
1056 | CEL | CELL SURFACE, DRUGGABLE GENOME, ENZYME | | Taurocholic Acid | | |