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 | rs746185964 | c.2015C>T | p.Ser672Leu | p.S672L | Q9UHI6 | protein_coding | deleterious(0.04) | benign(0.001) | TCGA-A2-A0D4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
DDX20 | SNV | Missense_Mutation | rs763722623 | c.1112N>A | p.Arg371His | p.R371H | Q9UHI6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | | c.1142N>C | p.Val381Ala | p.V381A | Q9UHI6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | | c.2398C>G | p.Gln800Glu | p.Q800E | Q9UHI6 | protein_coding | tolerated(0.21) | benign(0.057) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | | c.762N>C | p.Leu254Phe | p.L254F | Q9UHI6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
DDX20 | SNV | Missense_Mutation | novel | c.540G>T | p.Lys180Asn | p.K180N | Q9UHI6 | protein_coding | tolerated(0.08) | benign(0.418) | TCGA-OL-A6VQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DDX20 | SNV | Missense_Mutation | novel | c.2008N>T | p.Asn670Tyr | p.N670Y | Q9UHI6 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.564) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
DDX20 | SNV | Missense_Mutation | novel | c.2402G>T | p.Arg801Ile | p.R801I | Q9UHI6 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.854) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DDX20 | SNV | Missense_Mutation | | c.640N>C | p.Asp214His | p.D214H | Q9UHI6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DDX20 | insertion | Nonsense_Mutation | novel | c.1752_1753insTAGCCATA | p.Gln585Ter | p.Q585* | Q9UHI6 | protein_coding | | | TCGA-JW-A69B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |