GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190332016 | Endometrium | AEH | regulation of protein modification by small protein conjugation or removal | 67/2100 | 242/18723 | 1.10e-12 | 2.26e-10 | 67 |
GO:003139616 | Endometrium | AEH | regulation of protein ubiquitination | 57/2100 | 210/18723 | 1.24e-10 | 1.40e-08 | 57 |
GO:000166710 | Endometrium | AEH | ameboidal-type cell migration | 90/2100 | 475/18723 | 3.73e-07 | 1.57e-05 | 90 |
GO:009013014 | Endometrium | AEH | tissue migration | 73/2100 | 365/18723 | 5.79e-07 | 2.20e-05 | 73 |
GO:009013214 | Endometrium | AEH | epithelium migration | 72/2100 | 360/18723 | 6.90e-07 | 2.55e-05 | 72 |
GO:001063114 | Endometrium | AEH | epithelial cell migration | 71/2100 | 357/18723 | 1.02e-06 | 3.52e-05 | 71 |
GO:001063214 | Endometrium | AEH | regulation of epithelial cell migration | 60/2100 | 292/18723 | 2.31e-06 | 6.77e-05 | 60 |
GO:001063410 | Endometrium | AEH | positive regulation of epithelial cell migration | 41/2100 | 176/18723 | 3.79e-06 | 1.01e-04 | 41 |
GO:00514039 | Endometrium | AEH | stress-activated MAPK cascade | 50/2100 | 239/18723 | 9.33e-06 | 2.18e-04 | 50 |
GO:00310989 | Endometrium | AEH | stress-activated protein kinase signaling cascade | 51/2100 | 247/18723 | 1.12e-05 | 2.52e-04 | 51 |
GO:00328728 | Endometrium | AEH | regulation of stress-activated MAPK cascade | 42/2100 | 192/18723 | 1.53e-05 | 3.23e-04 | 42 |
GO:00380665 | Endometrium | AEH | p38MAPK cascade | 18/2100 | 55/18723 | 1.77e-05 | 3.65e-04 | 18 |
GO:00435428 | Endometrium | AEH | endothelial cell migration | 55/2100 | 279/18723 | 2.11e-05 | 4.15e-04 | 55 |
GO:00105955 | Endometrium | AEH | positive regulation of endothelial cell migration | 32/2100 | 133/18723 | 2.12e-05 | 4.15e-04 | 32 |
GO:00434105 | Endometrium | AEH | positive regulation of MAPK cascade | 84/2100 | 480/18723 | 2.19e-05 | 4.25e-04 | 84 |
GO:00703028 | Endometrium | AEH | regulation of stress-activated protein kinase signaling cascade | 42/2100 | 195/18723 | 2.27e-05 | 4.35e-04 | 42 |
GO:00105945 | Endometrium | AEH | regulation of endothelial cell migration | 47/2100 | 232/18723 | 4.02e-05 | 6.91e-04 | 47 |
GO:000223710 | Endometrium | AEH | response to molecule of bacterial origin | 65/2100 | 363/18723 | 9.00e-05 | 1.30e-03 | 65 |
GO:003249610 | Endometrium | AEH | response to lipopolysaccharide | 62/2100 | 343/18723 | 9.82e-05 | 1.41e-03 | 62 |
GO:19007443 | Endometrium | AEH | regulation of p38MAPK cascade | 15/2100 | 47/18723 | 1.21e-04 | 1.67e-03 | 15 |
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 | novel | c.710N>C | p.Asp237Ala | p.D237A | O94885 | protein_coding | deleterious_low_confidence(0) | benign(0.062) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.3125N>A | p.Arg1042Lys | p.R1042K | O94885 | protein_coding | tolerated_low_confidence(0.16) | benign(0) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | | c.2168N>A | p.Arg723Gln | p.R723Q | O94885 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
SASH1 | SNV | Missense_Mutation | rs765761559 | c.2866N>A | p.Glu956Lys | p.E956K | O94885 | protein_coding | tolerated_low_confidence(0.09) | benign(0.012) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
SASH1 | SNV | Missense_Mutation | novel | c.928G>A | p.Val310Met | p.V310M | O94885 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.94) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | rs772638237 | c.1168G>A | p.Glu390Lys | p.E390K | O94885 | protein_coding | tolerated_low_confidence(0.07) | benign(0.165) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | rs563008779 | c.259C>T | p.Arg87Trp | p.R87W | O94885 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.981) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
SASH1 | SNV | Missense_Mutation | rs369622700 | c.890C>T | p.Ser297Leu | p.S297L | O94885 | protein_coding | tolerated_low_confidence(0.12) | benign(0.026) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
SASH1 | SNV | Missense_Mutation | rs538165456 | c.2557N>A | p.Val853Met | p.V853M | O94885 | protein_coding | tolerated_low_confidence(0.17) | possibly_damaging(0.475) | TCGA-FI-A2D6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | insertion | Frame_Shift_Ins | novel | c.2309_2310insT | p.Leu771PhefsTer30 | p.L771Ffs*30 | O94885 | protein_coding | | | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |