GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1903311 | Colorectum | AD | regulation of mRNA metabolic process | 117/3918 | 288/18723 | 1.69e-14 | 4.23e-12 | 117 |
GO:0031331 | Colorectum | AD | positive regulation of cellular catabolic process | 156/3918 | 427/18723 | 4.68e-14 | 1.05e-11 | 156 |
GO:0043484 | Colorectum | AD | regulation of RNA splicing | 70/3918 | 148/18723 | 6.47e-13 | 1.16e-10 | 70 |
GO:0022618 | Colorectum | AD | ribonucleoprotein complex assembly | 92/3918 | 220/18723 | 1.49e-12 | 2.60e-10 | 92 |
GO:0071826 | Colorectum | AD | ribonucleoprotein complex subunit organization | 94/3918 | 227/18723 | 1.70e-12 | 2.87e-10 | 94 |
GO:0048024 | Colorectum | AD | regulation of mRNA splicing, via spliceosome | 50/3918 | 101/18723 | 1.62e-10 | 1.56e-08 | 50 |
GO:0050684 | Colorectum | AD | regulation of mRNA processing | 61/3918 | 137/18723 | 4.23e-10 | 3.58e-08 | 61 |
GO:0006401 | Colorectum | AD | RNA catabolic process | 102/3918 | 278/18723 | 8.64e-10 | 6.76e-08 | 102 |
GO:0022613 | Colorectum | AD | ribonucleoprotein complex biogenesis | 151/3918 | 463/18723 | 1.96e-09 | 1.39e-07 | 151 |
GO:0044270 | Colorectum | AD | cellular nitrogen compound catabolic process | 147/3918 | 451/18723 | 3.35e-09 | 2.23e-07 | 147 |
GO:0046700 | Colorectum | AD | heterocycle catabolic process | 145/3918 | 445/18723 | 4.37e-09 | 2.84e-07 | 145 |
GO:0006402 | Colorectum | AD | mRNA catabolic process | 87/3918 | 232/18723 | 4.40e-09 | 2.84e-07 | 87 |
GO:0034655 | Colorectum | AD | nucleobase-containing compound catabolic process | 133/3918 | 407/18723 | 1.56e-08 | 9.12e-07 | 133 |
GO:0019439 | Colorectum | AD | aromatic compound catabolic process | 146/3918 | 467/18723 | 7.48e-08 | 3.84e-06 | 146 |
GO:1901361 | Colorectum | AD | organic cyclic compound catabolic process | 153/3918 | 495/18723 | 8.23e-08 | 4.18e-06 | 153 |
GO:0061013 | Colorectum | AD | regulation of mRNA catabolic process | 64/3918 | 166/18723 | 1.44e-07 | 6.59e-06 | 64 |
GO:0043487 | Colorectum | AD | regulation of RNA stability | 63/3918 | 170/18723 | 9.17e-07 | 3.12e-05 | 63 |
GO:0006417 | Colorectum | AD | regulation of translation | 141/3918 | 468/18723 | 1.32e-06 | 4.22e-05 | 141 |
GO:0043488 | Colorectum | AD | regulation of mRNA stability | 59/3918 | 158/18723 | 1.50e-06 | 4.66e-05 | 59 |
GO:0000380 | Colorectum | AD | alternative mRNA splicing, via spliceosome | 33/3918 | 77/18723 | 1.13e-05 | 2.55e-04 | 33 |
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 | | |