GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001049832 | Thyroid | ATC | proteasomal protein catabolic process | 309/6293 | 490/18723 | 1.78e-41 | 1.13e-37 | 309 |
GO:0043161210 | Thyroid | ATC | proteasome-mediated ubiquitin-dependent protein catabolic process | 265/6293 | 412/18723 | 7.09e-38 | 1.49e-34 | 265 |
GO:0009896210 | Thyroid | ATC | positive regulation of catabolic process | 290/6293 | 492/18723 | 2.15e-31 | 1.94e-28 | 290 |
GO:004217635 | Thyroid | ATC | regulation of protein catabolic process | 239/6293 | 391/18723 | 2.63e-29 | 1.85e-26 | 239 |
GO:0045732210 | Thyroid | ATC | positive regulation of protein catabolic process | 148/6293 | 231/18723 | 1.93e-21 | 4.36e-19 | 148 |
GO:014001416 | Thyroid | ATC | mitotic nuclear division | 171/6293 | 287/18723 | 1.13e-19 | 1.66e-17 | 171 |
GO:003304423 | Thyroid | ATC | regulation of chromosome organization | 119/6293 | 187/18723 | 3.55e-17 | 3.40e-15 | 119 |
GO:004477219 | Thyroid | ATC | mitotic cell cycle phase transition | 223/6293 | 424/18723 | 3.46e-16 | 2.88e-14 | 223 |
GO:000007013 | Thyroid | ATC | mitotic sister chromatid segregation | 108/6293 | 168/18723 | 3.53e-16 | 2.90e-14 | 108 |
GO:000734622 | Thyroid | ATC | regulation of mitotic cell cycle | 236/6293 | 457/18723 | 7.58e-16 | 5.92e-14 | 236 |
GO:000081913 | Thyroid | ATC | sister chromatid segregation | 122/6293 | 202/18723 | 4.71e-15 | 3.17e-13 | 122 |
GO:000705913 | Thyroid | ATC | chromosome segregation | 183/6293 | 346/18723 | 8.03e-14 | 4.23e-12 | 183 |
GO:0000209110 | Thyroid | ATC | protein polyubiquitination | 134/6293 | 236/18723 | 1.86e-13 | 9.20e-12 | 134 |
GO:190199015 | Thyroid | ATC | regulation of mitotic cell cycle phase transition | 156/6293 | 299/18723 | 2.19e-11 | 7.80e-10 | 156 |
GO:005198311 | Thyroid | ATC | regulation of chromosome segregation | 60/6293 | 91/18723 | 2.83e-10 | 8.10e-09 | 60 |
GO:009881312 | Thyroid | ATC | nuclear chromosome segregation | 145/6293 | 281/18723 | 3.06e-10 | 8.61e-09 | 145 |
GO:003007111 | Thyroid | ATC | regulation of mitotic metaphase/anaphase transition | 44/6293 | 60/18723 | 3.54e-10 | 9.86e-09 | 44 |
GO:000709111 | Thyroid | ATC | metaphase/anaphase transition of mitotic cell cycle | 45/6293 | 62/18723 | 3.93e-10 | 1.08e-08 | 45 |
GO:001097523 | Thyroid | ATC | regulation of neuron projection development | 212/6293 | 445/18723 | 4.16e-10 | 1.14e-08 | 212 |
GO:004828512 | Thyroid | ATC | organelle fission | 229/6293 | 488/18723 | 4.79e-10 | 1.29e-08 | 229 |
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 |
HECW2 | SNV | Missense_Mutation | novel | c.718N>G | p.Thr240Ala | p.T240A | Q9P2P5 | protein_coding | tolerated(0.18) | possibly_damaging(0.554) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
HECW2 | SNV | Missense_Mutation | novel | c.4691A>G | p.Glu1564Gly | p.E1564G | Q9P2P5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HECW2 | SNV | Missense_Mutation | rs368745543 | c.722N>G | p.Asn241Ser | p.N241S | Q9P2P5 | protein_coding | deleterious(0.05) | benign(0.191) | TCGA-EC-A1QX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | PD |
HECW2 | SNV | Missense_Mutation | novel | c.3313C>A | p.Leu1105Ile | p.L1105I | Q9P2P5 | protein_coding | tolerated(0.08) | benign(0.005) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HECW2 | SNV | Missense_Mutation | novel | c.1594A>C | p.Asn532His | p.N532H | Q9P2P5 | protein_coding | tolerated_low_confidence(0.17) | benign(0) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HECW2 | SNV | Missense_Mutation | novel | c.4697N>T | p.Thr1566Ile | p.T1566I | Q9P2P5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HECW2 | SNV | Missense_Mutation | rs748126975 | c.1879N>A | p.Glu627Lys | p.E627K | Q9P2P5 | protein_coding | tolerated_low_confidence(0.13) | benign(0.236) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HECW2 | SNV | Missense_Mutation | novel | c.541T>G | p.Ser181Ala | p.S181A | Q9P2P5 | protein_coding | tolerated(0.36) | benign(0.003) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
HECW2 | SNV | Missense_Mutation | novel | c.185C>T | p.Thr62Ile | p.T62I | Q9P2P5 | protein_coding | deleterious(0) | benign(0.227) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
HECW2 | SNV | Missense_Mutation | novel | c.3232N>T | p.Pro1078Ser | p.P1078S | Q9P2P5 | protein_coding | deleterious(0.03) | probably_damaging(0.996) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |