GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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:00003876 | Skin | cSCC | spliceosomal snRNP assembly | 26/4864 | 50/18723 | 7.51e-05 | 7.21e-04 | 26 |
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 |
DDX20 | SNV | Missense_Mutation | rs201819497 | c.616N>T | p.Arg206Cys | p.R206C | Q9UHI6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | novel | c.774N>T | p.Met258Ile | p.M258I | Q9UHI6 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | novel | c.1281N>T | p.Gln427His | p.Q427H | Q9UHI6 | protein_coding | deleterious(0.01) | possibly_damaging(0.894) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | novel | c.1822A>G | p.Lys608Glu | p.K608E | Q9UHI6 | protein_coding | deleterious(0) | benign(0.079) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
DDX20 | SNV | Missense_Mutation | rs553678470 | c.1612T>C | p.Cys538Arg | p.C538R | Q9UHI6 | protein_coding | tolerated(0.09) | benign(0) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | rs778196499 | c.2222G>A | p.Arg741Gln | p.R741Q | Q9UHI6 | protein_coding | tolerated_low_confidence(0.47) | benign(0.247) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | | c.875N>C | p.Val292Ala | p.V292A | Q9UHI6 | protein_coding | tolerated(0.35) | benign(0.003) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DDX20 | SNV | Missense_Mutation | novel | c.2402N>T | p.Arg801Ile | p.R801I | Q9UHI6 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.854) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | | c.1274N>A | p.Ile425Asn | p.I425N | Q9UHI6 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AX-A064-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | novel | c.1316C>T | p.Pro439Leu | p.P439L | Q9UHI6 | protein_coding | deleterious(0.01) | possibly_damaging(0.814) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |