GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001605014 | Esophagus | ESCC | vesicle organization | 211/8552 | 300/18723 | 2.85e-18 | 2.87e-16 | 211 |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:0043254111 | Esophagus | ESCC | regulation of protein-containing complex assembly | 278/8552 | 428/18723 | 3.81e-16 | 2.77e-14 | 278 |
GO:001648210 | Esophagus | ESCC | cytosolic transport | 124/8552 | 168/18723 | 9.69e-14 | 4.69e-12 | 124 |
GO:009887615 | Esophagus | ESCC | vesicle-mediated transport to the plasma membrane | 99/8552 | 136/18723 | 1.13e-10 | 3.39e-09 | 99 |
GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
GO:00989278 | Esophagus | ESCC | vesicle-mediated transport between endosomal compartments | 36/8552 | 43/18723 | 2.90e-07 | 4.20e-06 | 36 |
GO:00482844 | Esophagus | ESCC | organelle fusion | 94/8552 | 141/18723 | 3.72e-07 | 5.16e-06 | 94 |
GO:00450226 | Esophagus | ESCC | early endosome to late endosome transport | 33/8552 | 40/18723 | 1.80e-06 | 2.11e-05 | 33 |
GO:002260420 | Esophagus | ESCC | regulation of cell morphogenesis | 180/8552 | 309/18723 | 5.19e-06 | 5.45e-05 | 180 |
GO:00901743 | Esophagus | ESCC | organelle membrane fusion | 73/8552 | 110/18723 | 9.29e-06 | 8.88e-05 | 73 |
GO:00330593 | Esophagus | ESCC | cellular pigmentation | 40/8552 | 53/18723 | 9.67e-06 | 9.21e-05 | 40 |
GO:003134616 | Esophagus | ESCC | positive regulation of cell projection organization | 201/8552 | 353/18723 | 1.19e-05 | 1.11e-04 | 201 |
GO:001072010 | Esophagus | ESCC | positive regulation of cell development | 172/8552 | 298/18723 | 1.74e-05 | 1.55e-04 | 172 |
GO:00069063 | Esophagus | ESCC | vesicle fusion | 70/8552 | 106/18723 | 1.82e-05 | 1.60e-04 | 70 |
GO:00324565 | Esophagus | ESCC | endocytic recycling | 51/8552 | 73/18723 | 2.47e-05 | 2.10e-04 | 51 |
GO:005076710 | Esophagus | ESCC | regulation of neurogenesis | 203/8552 | 364/18723 | 6.10e-05 | 4.68e-04 | 203 |
GO:00507697 | Esophagus | ESCC | positive regulation of neurogenesis | 131/8552 | 225/18723 | 9.71e-05 | 6.90e-04 | 131 |
GO:00610254 | Esophagus | ESCC | membrane fusion | 98/8552 | 163/18723 | 1.39e-04 | 9.41e-04 | 98 |
GO:0031333110 | Esophagus | ESCC | negative regulation of protein-containing complex assembly | 86/8552 | 141/18723 | 1.74e-04 | 1.14e-03 | 86 |
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 |
ANKRD27 | SNV | Missense_Mutation | novel | c.1898N>T | p.Gln633Leu | p.Q633L | Q96NW4 | protein_coding | tolerated(0.52) | benign(0) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
ANKRD27 | SNV | Missense_Mutation | novel | c.615N>T | p.Met205Ile | p.M205I | Q96NW4 | protein_coding | tolerated(0.05) | probably_damaging(0.987) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKRD27 | SNV | Missense_Mutation | rs766519033 | c.482N>A | p.Arg161Gln | p.R161Q | Q96NW4 | protein_coding | tolerated(0.22) | benign(0.033) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKRD27 | SNV | Missense_Mutation | novel | c.2306A>G | p.Asn769Ser | p.N769S | Q96NW4 | protein_coding | tolerated(0.61) | benign(0.003) | TCGA-B6-A0I1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ANKRD27 | SNV | Missense_Mutation | | c.2722G>A | p.Glu908Lys | p.E908K | Q96NW4 | protein_coding | deleterious(0.04) | benign(0.197) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ANKRD27 | insertion | Frame_Shift_Ins | novel | c.375_376insATGGGAGGATCTCTTGAGGCTGGGAGTTCAAGACCAGCCTGGGTAA | p.Pro126MetfsTer29 | p.P126Mfs*29 | Q96NW4 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
ANKRD27 | insertion | Frame_Shift_Ins | novel | c.512_513insA | p.Arg172ProfsTer48 | p.R172Pfs*48 | Q96NW4 | protein_coding | | | TCGA-A2-A0EM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ANKRD27 | insertion | Frame_Shift_Ins | novel | c.511_512insAAGTGGTAAAGTCATGGGGAAGTATAACAATGAGTATTAT | p.Leu171GlnfsTer62 | p.L171Qfs*62 | Q96NW4 | protein_coding | | | TCGA-A2-A0EM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ANKRD27 | insertion | Nonsense_Mutation | novel | c.1129_1130insAGCAAGACCTTGTTTCTAAAAAAA | p.Phe377delinsTer | p.F377delins* | Q96NW4 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
ANKRD27 | insertion | Frame_Shift_Ins | novel | c.1127_1128insCAAC | p.Phe377AsnfsTer9 | p.F377Nfs*9 | Q96NW4 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |