GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00009108 | Endometrium | AEH | cytokinesis | 40/2100 | 173/18723 | 6.01e-06 | 1.49e-04 | 40 |
GO:00605627 | Endometrium | AEH | epithelial tube morphogenesis | 63/2100 | 325/18723 | 9.63e-06 | 2.23e-04 | 63 |
GO:002241115 | Endometrium | AEH | cellular component disassembly | 80/2100 | 443/18723 | 1.07e-05 | 2.45e-04 | 80 |
GO:003465510 | Endometrium | AEH | nucleobase-containing compound catabolic process | 74/2100 | 407/18723 | 1.78e-05 | 3.65e-04 | 74 |
GO:004427010 | Endometrium | AEH | cellular nitrogen compound catabolic process | 80/2100 | 451/18723 | 2.09e-05 | 4.13e-04 | 80 |
GO:00467009 | Endometrium | AEH | heterocycle catabolic process | 79/2100 | 445/18723 | 2.27e-05 | 4.35e-04 | 79 |
GO:00194399 | Endometrium | AEH | aromatic compound catabolic process | 80/2100 | 467/18723 | 7.21e-05 | 1.10e-03 | 80 |
GO:19013619 | Endometrium | AEH | organic cyclic compound catabolic process | 83/2100 | 495/18723 | 1.13e-04 | 1.60e-03 | 83 |
GO:00616403 | Endometrium | AEH | cytoskeleton-dependent cytokinesis | 24/2100 | 100/18723 | 2.27e-04 | 2.75e-03 | 24 |
GO:00063258 | Endometrium | AEH | chromatin organization | 64/2100 | 409/18723 | 3.69e-03 | 2.52e-02 | 64 |
GO:00163313 | Endometrium | AEH | morphogenesis of embryonic epithelium | 27/2100 | 147/18723 | 6.70e-03 | 3.94e-02 | 27 |
GO:00351488 | Endometrium | AEH | tube formation | 27/2100 | 148/18723 | 7.34e-03 | 4.18e-02 | 27 |
GO:002241116 | Endometrium | EEC | cellular component disassembly | 82/2168 | 443/18723 | 1.06e-05 | 2.26e-04 | 82 |
GO:004427013 | Endometrium | EEC | cellular nitrogen compound catabolic process | 83/2168 | 451/18723 | 1.17e-05 | 2.43e-04 | 83 |
GO:004670013 | Endometrium | EEC | heterocycle catabolic process | 82/2168 | 445/18723 | 1.26e-05 | 2.55e-04 | 82 |
GO:000091013 | Endometrium | EEC | cytokinesis | 40/2168 | 173/18723 | 1.29e-05 | 2.60e-04 | 40 |
GO:006056213 | Endometrium | EEC | epithelial tube morphogenesis | 64/2168 | 325/18723 | 1.35e-05 | 2.70e-04 | 64 |
GO:003465514 | Endometrium | EEC | nucleobase-containing compound catabolic process | 76/2168 | 407/18723 | 1.61e-05 | 3.12e-04 | 76 |
GO:001943913 | Endometrium | EEC | aromatic compound catabolic process | 83/2168 | 467/18723 | 4.32e-05 | 7.10e-04 | 83 |
GO:190136113 | Endometrium | EEC | organic cyclic compound catabolic process | 86/2168 | 495/18723 | 7.31e-05 | 1.07e-03 | 86 |
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 |
CECR2 | SNV | Missense_Mutation | novel | c.3391N>C | p.Glu1131Gln | p.E1131Q | | protein_coding | tolerated(0.05) | probably_damaging(0.994) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CECR2 | SNV | Missense_Mutation | rs749447312 | c.799N>A | p.Val267Ile | p.V267I | | protein_coding | deleterious(0.04) | possibly_damaging(0.872) | TCGA-A1-A0SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
CECR2 | SNV | Missense_Mutation | | c.3037N>T | p.Arg1013Cys | p.R1013C | | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-A1-A0SG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
CECR2 | SNV | Missense_Mutation | | c.3379N>C | p.Glu1127Gln | p.E1127Q | | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CECR2 | SNV | Missense_Mutation | novel | c.1867T>G | p.Leu623Val | p.L623V | | protein_coding | tolerated_low_confidence(0.09) | benign(0.048) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CECR2 | SNV | Missense_Mutation | | c.3104G>A | p.Arg1035Gln | p.R1035Q | | protein_coding | tolerated(0.2) | benign(0.097) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CECR2 | SNV | Missense_Mutation | | c.3281C>A | p.Ser1094Tyr | p.S1094Y | | protein_coding | deleterious(0) | possibly_damaging(0.733) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CECR2 | SNV | Missense_Mutation | novel | c.3740G>T | p.Arg1247Ile | p.R1247I | | protein_coding | tolerated_low_confidence(0.05) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CECR2 | SNV | Missense_Mutation | rs771332466 | c.1918N>T | p.Arg640Cys | p.R640C | | protein_coding | deleterious(0) | possibly_damaging(0.72) | TCGA-D8-A145-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
CECR2 | SNV | Missense_Mutation | | c.3412C>A | p.His1138Asn | p.H1138N | | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-D8-A1XW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD |