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 | SNV | Missense_Mutation | | c.1280N>G | p.Pro427Arg | p.P427R | O60890 | protein_coding | tolerated(0.19) | probably_damaging(0.914) | TCGA-A8-A08T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
OPHN1 | SNV | Missense_Mutation | | c.1258C>A | p.Leu420Met | p.L420M | O60890 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-D8-A1JD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
OPHN1 | SNV | Missense_Mutation | | c.1054T>C | p.Ser352Pro | p.S352P | O60890 | protein_coding | deleterious(0) | possibly_damaging(0.855) | TCGA-E9-A1ND-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
OPHN1 | SNV | Missense_Mutation | | c.2269N>A | p.Pro757Thr | p.P757T | O60890 | protein_coding | tolerated_low_confidence(0.9) | benign(0.003) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
OPHN1 | insertion | Nonsense_Mutation | novel | c.378_379insTCTTTGATTTCATTGAGCAGTGGTTTCTAGTTCTCCTTGAAG | p.Phe126_Thr127insSerLeuIleSerLeuSerSerGlyPheTerPheSerLeuLys | p.F126_T127insSLISLSSGF*FSLK | O60890 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
OPHN1 | SNV | Missense_Mutation | | c.1672N>A | p.Glu558Lys | p.E558K | O60890 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
OPHN1 | SNV | Missense_Mutation | | c.604N>A | p.Ala202Thr | p.A202T | O60890 | protein_coding | deleterious(0.03) | benign(0.048) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
OPHN1 | SNV | Missense_Mutation | | c.1441N>T | p.Arg481Cys | p.R481C | O60890 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-C5-A8XJ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
OPHN1 | SNV | Missense_Mutation | | c.2132C>T | p.Pro711Leu | p.P711L | O60890 | protein_coding | deleterious(0.05) | benign(0.023) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
OPHN1 | SNV | Missense_Mutation | novel | c.1343N>A | p.Ser448Tyr | p.S448Y | O60890 | protein_coding | deleterious(0.02) | possibly_damaging(0.9) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |