GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004217616 | Endometrium | AEH | regulation of protein catabolic process | 100/2100 | 391/18723 | 9.58e-16 | 3.59e-13 | 100 |
GO:190336216 | Endometrium | AEH | regulation of cellular protein catabolic process | 70/2100 | 255/18723 | 5.40e-13 | 1.25e-10 | 70 |
GO:001049816 | Endometrium | AEH | proteasomal protein catabolic process | 108/2100 | 490/18723 | 2.73e-12 | 4.67e-10 | 108 |
GO:190305016 | Endometrium | AEH | regulation of proteolysis involved in cellular protein catabolic process | 58/2100 | 221/18723 | 3.58e-10 | 3.77e-08 | 58 |
GO:006113616 | Endometrium | AEH | regulation of proteasomal protein catabolic process | 49/2100 | 187/18723 | 8.64e-09 | 5.96e-07 | 49 |
GO:000716310 | Endometrium | AEH | establishment or maintenance of cell polarity | 54/2100 | 218/18723 | 1.30e-08 | 8.47e-07 | 54 |
GO:004217715 | Endometrium | AEH | negative regulation of protein catabolic process | 34/2100 | 121/18723 | 2.67e-07 | 1.17e-05 | 34 |
GO:00074098 | Endometrium | AEH | axonogenesis | 81/2100 | 418/18723 | 5.54e-07 | 2.12e-05 | 81 |
GO:00615648 | Endometrium | AEH | axon development | 88/2100 | 467/18723 | 6.39e-07 | 2.38e-05 | 88 |
GO:190336310 | Endometrium | AEH | negative regulation of cellular protein catabolic process | 24/2100 | 75/18723 | 1.18e-06 | 3.85e-05 | 24 |
GO:00300109 | Endometrium | AEH | establishment of cell polarity | 36/2100 | 143/18723 | 2.19e-06 | 6.49e-05 | 36 |
GO:00343299 | Endometrium | AEH | cell junction assembly | 78/2100 | 420/18723 | 4.80e-06 | 1.24e-04 | 78 |
GO:190305110 | Endometrium | AEH | negative regulation of proteolysis involved in cellular protein catabolic process | 20/2100 | 64/18723 | 1.34e-05 | 2.88e-04 | 20 |
GO:003133016 | Endometrium | AEH | negative regulation of cellular catabolic process | 53/2100 | 262/18723 | 1.40e-05 | 2.99e-04 | 53 |
GO:00510567 | Endometrium | AEH | regulation of small GTPase mediated signal transduction | 59/2100 | 302/18723 | 1.43e-05 | 3.03e-04 | 59 |
GO:00482598 | Endometrium | AEH | regulation of receptor-mediated endocytosis | 28/2100 | 110/18723 | 2.28e-05 | 4.35e-04 | 28 |
GO:00072657 | Endometrium | AEH | Ras protein signal transduction | 63/2100 | 337/18723 | 3.09e-05 | 5.66e-04 | 63 |
GO:00301009 | Endometrium | AEH | regulation of endocytosis | 44/2100 | 211/18723 | 3.39e-05 | 6.05e-04 | 44 |
GO:00068988 | Endometrium | AEH | receptor-mediated endocytosis | 49/2100 | 244/18723 | 3.54e-05 | 6.24e-04 | 49 |
GO:000989515 | Endometrium | AEH | negative regulation of catabolic process | 60/2100 | 320/18723 | 4.32e-05 | 7.28e-04 | 60 |
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 |
OPHN1 | insertion | Frame_Shift_Ins | novel | c.524dupT | p.Glu176ArgfsTer5 | p.E176Rfs*5 | O60890 | protein_coding | | | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OPHN1 | insertion | Frame_Shift_Ins | novel | c.2349_2350insT | p.Glu784Ter | p.E784* | O60890 | protein_coding | | | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
OPHN1 | insertion | Nonsense_Mutation | novel | c.2352_2353insTATGAGAGAAACAAATAGACAC | p.Thr785TyrfsTer6 | p.T785Yfs*6 | O60890 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
OPHN1 | insertion | Frame_Shift_Ins | novel | c.1848_1849insAAATATATCTC | p.Gln617LysfsTer15 | p.Q617Kfs*15 | O60890 | protein_coding | | | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OPHN1 | insertion | Nonsense_Mutation | novel | c.2352_2353insTATGAGAGAAACAAATAGACAC | p.Thr785TyrfsTer6 | p.T785Yfs*6 | O60890 | protein_coding | | | TCGA-D1-A0ZU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
OPHN1 | insertion | Frame_Shift_Ins | novel | c.2222dupC | p.Val742SerfsTer43 | p.V742Sfs*43 | O60890 | protein_coding | | | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
OPHN1 | SNV | Missense_Mutation | rs745478793 | c.1073N>G | p.Leu358Arg | p.L358R | O60890 | protein_coding | deleterious(0.01) | possibly_damaging(0.706) | TCGA-05-4405-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OPHN1 | SNV | Missense_Mutation | novel | c.719N>T | p.Ser240Phe | p.S240F | O60890 | protein_coding | deleterious(0) | benign(0.276) | TCGA-44-3919-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
OPHN1 | SNV | Missense_Mutation | | c.1797N>T | p.Arg599Ser | p.R599S | O60890 | protein_coding | tolerated(0.13) | benign(0.003) | TCGA-49-AARQ-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
OPHN1 | SNV | Missense_Mutation | | c.1194G>T | p.Glu398Asp | p.E398D | O60890 | protein_coding | deleterious(0) | possibly_damaging(0.677) | TCGA-50-6590-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Chemotherapy | paclitaxel | CR |