GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000675318 | Oral cavity | OSCC | nucleoside phosphate metabolic process | 247/7305 | 497/18723 | 6.28e-07 | 8.96e-06 | 247 |
GO:000911719 | Oral cavity | OSCC | nucleotide metabolic process | 243/7305 | 489/18723 | 7.80e-07 | 1.09e-05 | 243 |
GO:00091233 | Oral cavity | OSCC | nucleoside monophosphate metabolic process | 50/7305 | 76/18723 | 2.04e-06 | 2.62e-05 | 50 |
GO:000913217 | Oral cavity | OSCC | nucleoside diphosphate metabolic process | 70/7305 | 124/18723 | 6.03e-05 | 4.95e-04 | 70 |
GO:004693917 | Oral cavity | OSCC | nucleotide phosphorylation | 58/7305 | 101/18723 | 1.33e-04 | 9.44e-04 | 58 |
GO:000616517 | Oral cavity | OSCC | nucleoside diphosphate phosphorylation | 56/7305 | 99/18723 | 2.95e-04 | 1.85e-03 | 56 |
GO:19012938 | Oral cavity | OSCC | nucleoside phosphate biosynthetic process | 125/7305 | 256/18723 | 8.32e-04 | 4.41e-03 | 125 |
GO:00091658 | Oral cavity | OSCC | nucleotide biosynthetic process | 124/7305 | 254/18723 | 8.79e-04 | 4.63e-03 | 124 |
GO:000914119 | Oral cavity | OSCC | nucleoside triphosphate metabolic process | 58/7305 | 112/18723 | 4.01e-03 | 1.64e-02 | 58 |
GO:0021591 | Oral cavity | OSCC | ventricular system development | 18/7305 | 29/18723 | 1.00e-02 | 3.49e-02 | 18 |
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 |
AK8 | SNV | Missense_Mutation | | c.558N>T | p.Glu186Asp | p.E186D | Q96MA6 | protein_coding | tolerated(0.58) | benign(0.031) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | rs866903749 | c.1348N>A | p.Ala450Thr | p.A450T | Q96MA6 | protein_coding | tolerated(0.06) | possibly_damaging(0.906) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
AK8 | SNV | Missense_Mutation | rs528372576 | c.304G>A | p.Glu102Lys | p.E102K | Q96MA6 | protein_coding | tolerated(0.29) | benign(0.007) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | rs146410308 | c.1163G>A | p.Arg388Gln | p.R388Q | Q96MA6 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | rs375128507 | c.1016N>A | p.Arg339His | p.R339H | Q96MA6 | protein_coding | deleterious(0.03) | benign(0.429) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | rs771154027 | c.118G>A | p.Glu40Lys | p.E40K | Q96MA6 | protein_coding | tolerated(0.77) | benign(0.003) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | | c.521G>T | p.Arg174Ile | p.R174I | Q96MA6 | protein_coding | deleterious(0) | probably_damaging(0.914) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | | c.267G>T | p.Glu89Asp | p.E89D | Q96MA6 | protein_coding | tolerated(0.35) | benign(0.01) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | novel | c.811G>A | p.Val271Met | p.V271M | Q96MA6 | protein_coding | deleterious(0) | benign(0.206) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | novel | c.654A>C | p.Lys218Asn | p.K218N | Q96MA6 | protein_coding | deleterious(0) | possibly_damaging(0.678) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |