GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:003070518 | Esophagus | ESCC | cytoskeleton-dependent intracellular transport | 133/8552 | 195/18723 | 1.48e-10 | 4.27e-09 | 133 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:003109818 | Esophagus | ESCC | stress-activated protein kinase signaling cascade | 154/8552 | 247/18723 | 8.53e-08 | 1.44e-06 | 154 |
GO:003011117 | Esophagus | ESCC | regulation of Wnt signaling pathway | 194/8552 | 328/18723 | 5.39e-07 | 7.14e-06 | 194 |
GO:006007016 | Esophagus | ESCC | canonical Wnt signaling pathway | 180/8552 | 303/18723 | 9.15e-07 | 1.17e-05 | 180 |
GO:000206420 | Esophagus | ESCC | epithelial cell development | 136/8552 | 220/18723 | 9.50e-07 | 1.21e-05 | 136 |
GO:006082817 | Esophagus | ESCC | regulation of canonical Wnt signaling pathway | 153/8552 | 253/18723 | 1.38e-06 | 1.67e-05 | 153 |
GO:00316486 | Esophagus | ESCC | protein destabilization | 33/8552 | 46/18723 | 3.06e-04 | 1.83e-03 | 33 |
GO:00311227 | Esophagus | ESCC | cytoplasmic microtubule organization | 38/8552 | 56/18723 | 6.60e-04 | 3.50e-03 | 38 |
GO:00301788 | Esophagus | ESCC | negative regulation of Wnt signaling pathway | 97/8552 | 170/18723 | 1.81e-03 | 8.31e-03 | 97 |
GO:00355671 | Esophagus | ESCC | non-canonical Wnt signaling pathway | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:00900905 | Esophagus | ESCC | negative regulation of canonical Wnt signaling pathway | 78/8552 | 137/18723 | 5.17e-03 | 1.95e-02 | 78 |
GO:00033824 | Esophagus | ESCC | epithelial cell morphogenesis | 22/8552 | 33/18723 | 1.22e-02 | 4.08e-02 | 22 |
GO:003164720 | Oral cavity | OSCC | regulation of protein stability | 193/7305 | 298/18723 | 1.30e-19 | 1.95e-17 | 193 |
GO:003109816 | Oral cavity | OSCC | stress-activated protein kinase signaling cascade | 141/7305 | 247/18723 | 5.74e-09 | 1.25e-07 | 141 |
GO:003070510 | Oral cavity | OSCC | cytoskeleton-dependent intracellular transport | 113/7305 | 195/18723 | 6.03e-08 | 1.09e-06 | 113 |
GO:001605510 | Oral cavity | OSCC | Wnt signaling pathway | 227/7305 | 444/18723 | 1.10e-07 | 1.87e-06 | 227 |
GO:019873810 | Oral cavity | OSCC | cell-cell signaling by wnt | 227/7305 | 446/18723 | 1.75e-07 | 2.86e-06 | 227 |
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 |
CCDC88C | SNV | Missense_Mutation | | c.3994N>C | p.Glu1332Gln | p.E1332Q | Q9P219 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
CCDC88C | SNV | Missense_Mutation | rs753170514 | c.3748N>A | p.Glu1250Lys | p.E1250K | Q9P219 | protein_coding | deleterious(0.02) | possibly_damaging(0.825) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC88C | SNV | Missense_Mutation | | c.2617G>A | p.Asp873Asn | p.D873N | Q9P219 | protein_coding | tolerated(0.34) | benign(0.119) | TCGA-AR-A255-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | SD |
CCDC88C | SNV | Missense_Mutation | rs776581160 | c.4751C>T | p.Ser1584Leu | p.S1584L | Q9P219 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC88C | SNV | Missense_Mutation | | c.1225G>A | p.Glu409Lys | p.E409K | Q9P219 | protein_coding | deleterious(0.01) | probably_damaging(0.976) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC88C | SNV | Missense_Mutation | | c.1156G>A | p.Glu386Lys | p.E386K | Q9P219 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC88C | SNV | Missense_Mutation | | c.4153G>A | p.Glu1385Lys | p.E1385K | Q9P219 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CCDC88C | SNV | Missense_Mutation | | c.2512G>A | p.Glu838Lys | p.E838K | Q9P219 | protein_coding | deleterious(0) | possibly_damaging(0.698) | TCGA-EW-A1PD-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Chemotherapy | docetaxel | SD |
CCDC88C | insertion | Frame_Shift_Ins | novel | c.4273_4274insTCAACACGTTCTCCATGTATATAAGACCT | p.Arg1425LeufsTer12 | p.R1425Lfs*12 | Q9P219 | protein_coding | | | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CCDC88C | insertion | Nonsense_Mutation | novel | c.1863_1864insATTCAATATTTTGATCTCCACTTCTCCTGTGTCTAAGCAAT | p.Gln622IlefsTer12 | p.Q622Ifs*12 | Q9P219 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |