GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000283123 | Thyroid | ATC | regulation of response to biotic stimulus | 144/6293 | 327/18723 | 4.94e-05 | 3.91e-04 | 144 |
GO:005186513 | Thyroid | ATC | protein autoubiquitination | 41/6293 | 73/18723 | 6.14e-05 | 4.69e-04 | 41 |
GO:007053415 | Thyroid | ATC | protein K63-linked ubiquitination | 33/6293 | 56/18723 | 8.86e-05 | 6.58e-04 | 33 |
GO:003210324 | Thyroid | ATC | positive regulation of response to external stimulus | 178/6293 | 427/18723 | 2.61e-04 | 1.67e-03 | 178 |
GO:004340513 | Thyroid | ATC | regulation of MAP kinase activity | 82/6293 | 177/18723 | 2.87e-04 | 1.83e-03 | 82 |
GO:007030226 | Thyroid | ATC | regulation of stress-activated protein kinase signaling cascade | 89/6293 | 195/18723 | 3.05e-04 | 1.93e-03 | 89 |
GO:003287226 | Thyroid | ATC | regulation of stress-activated MAPK cascade | 87/6293 | 192/18723 | 4.72e-04 | 2.77e-03 | 87 |
GO:190122421 | Thyroid | ATC | positive regulation of NIK/NF-kappaB signaling | 37/6293 | 69/18723 | 4.80e-04 | 2.81e-03 | 37 |
GO:001059431 | Thyroid | ATC | regulation of endothelial cell migration | 102/6293 | 232/18723 | 6.17e-04 | 3.51e-03 | 102 |
GO:004576621 | Thyroid | ATC | positive regulation of angiogenesis | 82/6293 | 181/18723 | 6.79e-04 | 3.83e-03 | 82 |
GO:190401821 | Thyroid | ATC | positive regulation of vasculature development | 82/6293 | 181/18723 | 6.79e-04 | 3.83e-03 | 82 |
GO:00457657 | Thyroid | ATC | regulation of angiogenesis | 141/6293 | 342/18723 | 1.80e-03 | 8.85e-03 | 141 |
GO:19013427 | Thyroid | ATC | regulation of vasculature development | 143/6293 | 348/18723 | 1.95e-03 | 9.44e-03 | 143 |
GO:003806122 | Thyroid | ATC | NIK/NF-kappaB signaling | 64/6293 | 143/18723 | 3.53e-03 | 1.57e-02 | 64 |
GO:004340611 | Thyroid | ATC | positive regulation of MAP kinase activity | 51/6293 | 112/18723 | 5.68e-03 | 2.30e-02 | 51 |
GO:190122232 | Thyroid | ATC | regulation of NIK/NF-kappaB signaling | 51/6293 | 112/18723 | 5.68e-03 | 2.30e-02 | 51 |
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 |
SASH1 | SNV | Missense_Mutation | | c.2098N>T | p.Asn700Tyr | p.N700Y | O94885 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
SASH1 | SNV | Missense_Mutation | rs771773054 | c.2579N>T | p.Pro860Leu | p.P860L | O94885 | protein_coding | deleterious_low_confidence(0.01) | benign(0.012) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
SASH1 | SNV | Missense_Mutation | rs587781245 | c.1849G>A | p.Glu617Lys | p.E617K | O94885 | protein_coding | deleterious(0.02) | benign(0.085) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.2696G>T | p.Arg899Ile | p.R899I | O94885 | protein_coding | deleterious_low_confidence(0.01) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.2467N>A | p.Glu823Lys | p.E823K | O94885 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SASH1 | SNV | Missense_Mutation | rs569499786 | c.1013N>T | p.Ser338Phe | p.S338F | O94885 | protein_coding | tolerated_low_confidence(0.08) | benign(0.024) | TCGA-D8-A4Z1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
SASH1 | SNV | Missense_Mutation | novel | c.1627N>T | p.Asp543Tyr | p.D543Y | O94885 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A14X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
SASH1 | SNV | Missense_Mutation | rs534390155 | c.1535G>A | p.Arg512His | p.R512H | O94885 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-E2-A1B0-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
SASH1 | SNV | Missense_Mutation | novel | c.3675G>C | p.Glu1225Asp | p.E1225D | O94885 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.952) | TCGA-OL-A6VQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.115G>A | p.Glu39Lys | p.E39K | O94885 | protein_coding | deleterious_low_confidence(0.04) | benign(0.001) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |