GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004802413 | Lung | AIS | regulation of mRNA splicing, via spliceosome | 32/1849 | 101/18723 | 1.20e-09 | 2.42e-07 | 32 |
GO:190331112 | Lung | AIS | regulation of mRNA metabolic process | 60/1849 | 288/18723 | 1.74e-08 | 2.47e-06 | 60 |
GO:005068412 | Lung | AIS | regulation of mRNA processing | 36/1849 | 137/18723 | 3.06e-08 | 3.79e-06 | 36 |
GO:000641713 | Lung | AIS | regulation of translation | 78/1849 | 468/18723 | 2.68e-06 | 1.49e-04 | 78 |
GO:000038112 | Lung | AIS | regulation of alternative mRNA splicing, via spliceosome | 19/1849 | 60/18723 | 2.77e-06 | 1.52e-04 | 19 |
GO:003295613 | Lung | AIS | regulation of actin cytoskeleton organization | 63/1849 | 358/18723 | 4.06e-06 | 2.09e-04 | 63 |
GO:003297013 | Lung | AIS | regulation of actin filament-based process | 68/1849 | 397/18723 | 4.49e-06 | 2.27e-04 | 68 |
GO:000726512 | Lung | AIS | Ras protein signal transduction | 60/1849 | 337/18723 | 4.68e-06 | 2.31e-04 | 60 |
GO:000173811 | Lung | AIS | morphogenesis of a polarized epithelium | 24/1849 | 94/18723 | 1.00e-05 | 4.18e-04 | 24 |
GO:000038012 | Lung | AIS | alternative mRNA splicing, via spliceosome | 21/1849 | 77/18723 | 1.19e-05 | 4.71e-04 | 21 |
GO:006056211 | Lung | AIS | epithelial tube morphogenesis | 57/1849 | 325/18723 | 1.27e-05 | 4.78e-04 | 57 |
GO:004863811 | Lung | AIS | regulation of developmental growth | 55/1849 | 330/18723 | 7.63e-05 | 1.95e-03 | 55 |
GO:000640212 | Lung | AIS | mRNA catabolic process | 42/1849 | 232/18723 | 8.07e-05 | 2.02e-03 | 42 |
GO:004863911 | Lung | AIS | positive regulation of developmental growth | 34/1849 | 174/18723 | 8.08e-05 | 2.02e-03 | 34 |
GO:000838013 | Lung | AIS | RNA splicing | 68/1849 | 434/18723 | 8.50e-05 | 2.11e-03 | 68 |
GO:007182613 | Lung | AIS | ribonucleoprotein complex subunit organization | 41/1849 | 227/18723 | 1.03e-04 | 2.50e-03 | 41 |
GO:002261813 | Lung | AIS | ribonucleoprotein complex assembly | 40/1849 | 220/18723 | 1.07e-04 | 2.57e-03 | 40 |
GO:000184111 | Lung | AIS | neural tube formation | 23/1849 | 102/18723 | 1.24e-04 | 2.82e-03 | 23 |
GO:000726612 | Lung | AIS | Rho protein signal transduction | 28/1849 | 137/18723 | 1.51e-04 | 3.22e-03 | 28 |
GO:190331312 | Lung | AIS | positive regulation of mRNA metabolic process | 25/1849 | 118/18723 | 1.85e-04 | 3.83e-03 | 25 |
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 | | |