GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:0071826111 | Esophagus | ESCC | ribonucleoprotein complex subunit organization | 166/8552 | 227/18723 | 2.94e-17 | 2.42e-15 | 166 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:0022618111 | Esophagus | ESCC | ribonucleoprotein complex assembly | 159/8552 | 220/18723 | 8.19e-16 | 5.71e-14 | 159 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:2001234111 | Esophagus | ESCC | negative regulation of apoptotic signaling pathway | 161/8552 | 224/18723 | 1.24e-15 | 8.09e-14 | 161 |
GO:0042273111 | Esophagus | ESCC | ribosomal large subunit biogenesis | 65/8552 | 72/18723 | 1.53e-15 | 9.82e-14 | 65 |
GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
GO:0043281111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 143/8552 | 209/18723 | 2.12e-11 | 7.31e-10 | 143 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:00457865 | Esophagus | ESCC | negative regulation of cell cycle | 236/8552 | 385/18723 | 3.62e-10 | 9.93e-09 | 236 |
GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
GO:0042255111 | Esophagus | ESCC | ribosome assembly | 50/8552 | 61/18723 | 5.66e-09 | 1.17e-07 | 50 |
GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
GO:2000117110 | Esophagus | ESCC | negative regulation of cysteine-type endopeptidase activity | 63/8552 | 86/18723 | 1.84e-07 | 2.88e-06 | 63 |
GO:0043154110 | Esophagus | ESCC | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 58/8552 | 78/18723 | 2.38e-07 | 3.61e-06 | 58 |
GO:003011117 | Esophagus | ESCC | regulation of Wnt signaling pathway | 194/8552 | 328/18723 | 5.39e-07 | 7.14e-06 | 194 |
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 |
NLE1 | SNV | Missense_Mutation | novel | c.354N>G | p.Ile118Met | p.I118M | Q9NVX2 | protein_coding | deleterious(0) | possibly_damaging(0.868) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | novel | c.562N>T | p.Gly188Trp | p.G188W | Q9NVX2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | rs766331515 | c.1280N>A | p.Arg427Gln | p.R427Q | Q9NVX2 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | rs368988690 | c.772N>A | p.Gly258Arg | p.G258R | Q9NVX2 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | novel | c.190N>A | p.Val64Ile | p.V64I | Q9NVX2 | protein_coding | tolerated(0.47) | benign(0.007) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | rs748512588 | c.685N>T | p.Arg229Trp | p.R229W | Q9NVX2 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | rs764633856 | c.859N>A | p.Gly287Ser | p.G287S | Q9NVX2 | protein_coding | deleterious(0.02) | benign(0.216) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | | c.596G>T | p.Ser199Ile | p.S199I | Q9NVX2 | protein_coding | deleterious(0.01) | benign(0.139) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
NLE1 | SNV | Missense_Mutation | novel | c.204N>T | p.Glu68Asp | p.E68D | Q9NVX2 | protein_coding | tolerated(0.12) | probably_damaging(0.994) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NLE1 | SNV | Missense_Mutation | novel | c.442C>T | p.Pro148Ser | p.P148S | Q9NVX2 | protein_coding | deleterious(0) | possibly_damaging(0.763) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |