GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:009017511 | Skin | SCCIS | regulation of establishment of planar polarity | 9/919 | 56/18723 | 1.51e-03 | 1.69e-02 | 9 |
GO:000173813 | Skin | SCCIS | morphogenesis of a polarized epithelium | 12/919 | 94/18723 | 2.13e-03 | 2.17e-02 | 12 |
GO:000183815 | Skin | SCCIS | embryonic epithelial tube formation | 14/919 | 121/18723 | 2.45e-03 | 2.40e-02 | 14 |
GO:003514817 | Skin | SCCIS | tube formation | 16/919 | 148/18723 | 2.52e-03 | 2.44e-02 | 16 |
GO:00355672 | Skin | SCCIS | non-canonical Wnt signaling pathway | 10/919 | 72/18723 | 2.61e-03 | 2.48e-02 | 10 |
GO:002191513 | Skin | SCCIS | neural tube development | 16/919 | 152/18723 | 3.30e-03 | 2.97e-02 | 16 |
GO:200002711 | Skin | SCCIS | regulation of animal organ morphogenesis | 14/919 | 125/18723 | 3.31e-03 | 2.97e-02 | 14 |
GO:00422491 | Skin | SCCIS | establishment of planar polarity of embryonic epithelium | 4/919 | 15/18723 | 5.10e-03 | 4.10e-02 | 4 |
GO:007217513 | Skin | SCCIS | epithelial tube formation | 14/919 | 132/18723 | 5.40e-03 | 4.29e-02 | 14 |
GO:002261329 | Skin | cSCC | ribonucleoprotein complex biogenesis | 302/4864 | 463/18723 | 5.13e-72 | 3.22e-68 | 302 |
GO:0008380112 | Skin | cSCC | RNA splicing | 263/4864 | 434/18723 | 2.45e-53 | 5.13e-50 | 263 |
GO:0000375112 | Skin | cSCC | RNA splicing, via transesterification reactions | 201/4864 | 324/18723 | 4.07e-43 | 5.10e-40 | 201 |
GO:0000377112 | Skin | cSCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 197/4864 | 320/18723 | 1.45e-41 | 1.14e-38 | 197 |
GO:0000398112 | Skin | cSCC | mRNA splicing, via spliceosome | 197/4864 | 320/18723 | 1.45e-41 | 1.14e-38 | 197 |
GO:007182629 | Skin | cSCC | ribonucleoprotein complex subunit organization | 140/4864 | 227/18723 | 5.54e-30 | 3.16e-27 | 140 |
GO:002261829 | Skin | cSCC | ribonucleoprotein complex assembly | 136/4864 | 220/18723 | 2.60e-29 | 1.25e-26 | 136 |
GO:190331126 | Skin | cSCC | regulation of mRNA metabolic process | 162/4864 | 288/18723 | 5.90e-28 | 2.46e-25 | 162 |
GO:000641729 | Skin | cSCC | regulation of translation | 226/4864 | 468/18723 | 8.78e-26 | 2.62e-23 | 226 |
GO:004348429 | Skin | cSCC | regulation of RNA splicing | 97/4864 | 148/18723 | 4.66e-24 | 1.08e-21 | 97 |
GO:005068425 | Skin | cSCC | regulation of mRNA processing | 92/4864 | 137/18723 | 4.81e-24 | 1.08e-21 | 92 |
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 | | |