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 | novel | c.72N>G | p.Phe24Leu | p.F24L | Q96MA6 | protein_coding | deleterious(0) | benign(0.168) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
AK8 | SNV | Missense_Mutation | | c.647N>A | p.Ala216Asp | p.A216D | Q96MA6 | protein_coding | tolerated(0.11) | benign(0.372) | TCGA-E2-A15S-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
AK8 | insertion | Nonsense_Mutation | novel | c.308_309insAGGGTAGGGGAGGAGAAG | p.Ala103_Arg104insGlyTerGlyArgArgSer | p.A103_R104insG*GRRS | Q96MA6 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AK8 | insertion | Frame_Shift_Ins | novel | c.307_308insGAGGGGGA | p.Ala103GlyfsTer22 | p.A103Gfs*22 | Q96MA6 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AK8 | deletion | Frame_Shift_Del | novel | c.1316delN | p.Asn439ThrfsTer73 | p.N439Tfs*73 | Q96MA6 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AK8 | SNV | Missense_Mutation | | c.547N>G | p.Gln183Glu | p.Q183E | Q96MA6 | protein_coding | tolerated(0.41) | benign(0.02) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AK8 | SNV | Missense_Mutation | | c.558G>C | p.Glu186Asp | p.E186D | Q96MA6 | protein_coding | tolerated(0.58) | benign(0.031) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | rs375128507 | c.1016G>A | p.Arg339His | p.R339H | Q96MA6 | protein_coding | deleterious(0.03) | benign(0.429) | TCGA-VS-A8EI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AK8 | SNV | Missense_Mutation | rs750120409 | c.589N>A | p.Glu197Lys | p.E197K | Q96MA6 | protein_coding | tolerated(0.07) | benign(0.369) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
AK8 | SNV | Missense_Mutation | novel | c.1147N>T | p.Asp383Tyr | p.D383Y | Q96MA6 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |