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 | | c.1025N>G | p.Asp342Gly | p.D342G | O94885 | protein_coding | tolerated_low_confidence(0.1) | benign(0.019) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SASH1 | SNV | Missense_Mutation | rs587781245 | c.1849N>A | p.Glu617Lys | p.E617K | O94885 | protein_coding | deleterious(0.02) | benign(0.085) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | | c.379G>C | p.Glu127Gln | p.E127Q | O94885 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.915) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SASH1 | SNV | Missense_Mutation | rs756740212 | c.64N>A | p.Glu22Lys | p.E22K | O94885 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.651) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
SASH1 | SNV | Missense_Mutation | rs751020609 | c.2872N>A | p.Glu958Lys | p.E958K | O94885 | protein_coding | tolerated_low_confidence(0.12) | benign(0.156) | TCGA-ZJ-AAXU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SASH1 | deletion | Frame_Shift_Del | rs761606832 | c.3177delC | p.Trp1060GlyfsTer16 | p.W1060Gfs*16 | O94885 | protein_coding | | | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SASH1 | SNV | Missense_Mutation | rs139081709 | c.1646N>T | p.Pro549Leu | p.P549L | O94885 | protein_coding | tolerated(0.47) | benign(0.042) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | rs577978226 | c.3520N>A | p.Val1174Ile | p.V1174I | O94885 | protein_coding | tolerated_low_confidence(0.15) | benign(0.058) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.1033G>T | p.Gly345Trp | p.G345W | O94885 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.849) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SASH1 | SNV | Missense_Mutation | novel | c.1325N>T | p.Ser442Leu | p.S442L | O94885 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |