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 | rs139369529 | c.2746N>A | p.Ala916Thr | p.A916T | O94885 | protein_coding | tolerated_low_confidence(0.4) | benign(0.001) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | rs768183967 | c.308C>T | p.Thr103Met | p.T103M | O94885 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.997) | TCGA-AJ-A2QO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | rs367842173 | c.3047N>T | p.Ala1016Val | p.A1016V | O94885 | protein_coding | tolerated_low_confidence(0.19) | benign(0.003) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.178G>A | p.Asp60Asn | p.D60N | O94885 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
SASH1 | SNV | Missense_Mutation | novel | c.1847A>G | p.Asp616Gly | p.D616G | O94885 | protein_coding | tolerated(0.06) | benign(0.063) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.3146C>A | p.Pro1049His | p.P1049H | O94885 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.921) | TCGA-AJ-A3OK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
SASH1 | SNV | Missense_Mutation | rs367842173 | c.3047N>T | p.Ala1016Val | p.A1016V | O94885 | protein_coding | tolerated_low_confidence(0.19) | benign(0.003) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | rs749914751 | c.2983C>T | p.Arg995Cys | p.R995C | O94885 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.997) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | | c.3341C>A | p.Ser1114Tyr | p.S1114Y | O94885 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | rs756111132 | c.2410N>A | p.Val804Met | p.V804M | O94885 | protein_coding | tolerated_low_confidence(0.09) | benign(0.135) | TCGA-AP-A0LE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |