GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003450418 | Esophagus | ESCC | protein localization to nucleus | 211/8552 | 290/18723 | 4.06e-21 | 6.60e-19 | 211 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:0070997111 | Esophagus | ESCC | neuron death | 216/8552 | 361/18723 | 3.49e-08 | 6.45e-07 | 216 |
GO:00163316 | Esophagus | ESCC | morphogenesis of embryonic epithelium | 98/8552 | 147/18723 | 2.12e-07 | 3.27e-06 | 98 |
GO:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
GO:000183814 | Esophagus | ESCC | embryonic epithelial tube formation | 83/8552 | 121/18723 | 2.78e-07 | 4.08e-06 | 83 |
GO:004860818 | Esophagus | ESCC | reproductive structure development | 245/8552 | 424/18723 | 2.82e-07 | 4.14e-06 | 245 |
GO:003514815 | Esophagus | ESCC | tube formation | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:0051402110 | Esophagus | ESCC | neuron apoptotic process | 148/8552 | 246/18723 | 3.08e-06 | 3.47e-05 | 148 |
GO:1901214111 | Esophagus | ESCC | regulation of neuron death | 186/8552 | 319/18723 | 3.35e-06 | 3.73e-05 | 186 |
GO:00721759 | Esophagus | ESCC | epithelial tube formation | 86/8552 | 132/18723 | 4.81e-06 | 5.10e-05 | 86 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:00605417 | Esophagus | ESCC | respiratory system development | 123/8552 | 203/18723 | 1.26e-05 | 1.15e-04 | 123 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:00485386 | Esophagus | ESCC | thymus development | 33/8552 | 45/18723 | 1.54e-04 | 1.02e-03 | 33 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
GO:004352317 | Esophagus | ESCC | regulation of neuron apoptotic process | 122/8552 | 212/18723 | 3.21e-04 | 1.90e-03 | 122 |
GO:005067817 | Esophagus | ESCC | regulation of epithelial cell proliferation | 206/8552 | 381/18723 | 5.51e-04 | 3.02e-03 | 206 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:006056010 | Esophagus | ESCC | developmental growth involved in morphogenesis | 131/8552 | 234/18723 | 9.28e-04 | 4.73e-03 | 131 |
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 |
SIX4 | SNV | Missense_Mutation | | c.1364N>C | p.Arg455Thr | p.R455T | Q9UIU6 | protein_coding | tolerated(0.36) | benign(0.005) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SIX4 | SNV | Missense_Mutation | | c.708N>G | p.Asn236Lys | p.N236K | Q9UIU6 | protein_coding | deleterious(0.03) | benign(0.122) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SIX4 | SNV | Missense_Mutation | | c.2300N>T | p.Ala767Val | p.A767V | Q9UIU6 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.883) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
SIX4 | SNV | Missense_Mutation | novel | c.2167N>C | p.Glu723Gln | p.E723Q | Q9UIU6 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.915) | TCGA-BH-A42V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SIX4 | SNV | Missense_Mutation | novel | c.436N>C | p.Glu146Gln | p.E146Q | Q9UIU6 | protein_coding | deleterious(0) | possibly_damaging(0.794) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SIX4 | insertion | Nonsense_Mutation | novel | c.864_865insATCCATGACTGACATACTGGGGTCTACTTCCCAGGACGTGAAG | p.Glu289IlefsTer4 | p.E289Ifs*4 | Q9UIU6 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
SIX4 | SNV | Missense_Mutation | | c.708C>G | p.Asn236Lys | p.N236K | Q9UIU6 | protein_coding | deleterious(0.03) | benign(0.122) | TCGA-JW-A5VJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
SIX4 | SNV | Missense_Mutation | | c.438N>C | p.Glu146Asp | p.E146D | Q9UIU6 | protein_coding | tolerated(0.07) | benign(0.417) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SIX4 | SNV | Missense_Mutation | | c.1859N>C | p.Phe620Ser | p.F620S | Q9UIU6 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.879) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
SIX4 | SNV | Missense_Mutation | rs778647376 | c.57G>T | p.Glu19Asp | p.E19D | Q9UIU6 | protein_coding | deleterious_low_confidence(0) | benign(0.003) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |