GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000701516 | Endometrium | AEH | actin filament organization | 98/2100 | 442/18723 | 1.99e-11 | 2.98e-09 | 98 |
GO:003297016 | Endometrium | AEH | regulation of actin filament-based process | 89/2100 | 397/18723 | 9.14e-11 | 1.10e-08 | 89 |
GO:190290316 | Endometrium | AEH | regulation of supramolecular fiber organization | 83/2100 | 383/18723 | 2.20e-09 | 1.78e-07 | 83 |
GO:003295616 | Endometrium | AEH | regulation of actin cytoskeleton organization | 77/2100 | 358/18723 | 1.18e-08 | 7.76e-07 | 77 |
GO:011005316 | Endometrium | AEH | regulation of actin filament organization | 61/2100 | 278/18723 | 1.83e-07 | 8.11e-06 | 61 |
GO:003103210 | Endometrium | AEH | actomyosin structure organization | 46/2100 | 196/18723 | 8.00e-07 | 2.91e-05 | 46 |
GO:190290516 | Endometrium | AEH | positive regulation of supramolecular fiber organization | 48/2100 | 209/18723 | 9.11e-07 | 3.20e-05 | 48 |
GO:005101716 | Endometrium | AEH | actin filament bundle assembly | 39/2100 | 157/18723 | 1.21e-06 | 3.91e-05 | 39 |
GO:006157216 | Endometrium | AEH | actin filament bundle organization | 39/2100 | 161/18723 | 2.36e-06 | 6.86e-05 | 39 |
GO:003223115 | Endometrium | AEH | regulation of actin filament bundle assembly | 28/2100 | 105/18723 | 8.87e-06 | 2.09e-04 | 28 |
GO:003003815 | Endometrium | AEH | contractile actin filament bundle assembly | 28/2100 | 106/18723 | 1.08e-05 | 2.45e-04 | 28 |
GO:004314915 | Endometrium | AEH | stress fiber assembly | 28/2100 | 106/18723 | 1.08e-05 | 2.45e-04 | 28 |
GO:005149514 | Endometrium | AEH | positive regulation of cytoskeleton organization | 47/2100 | 226/18723 | 2.00e-05 | 4.05e-04 | 47 |
GO:005149216 | Endometrium | AEH | regulation of stress fiber assembly | 24/2100 | 91/18723 | 4.61e-05 | 7.68e-04 | 24 |
GO:004593616 | Endometrium | AEH | negative regulation of phosphate metabolic process | 77/2100 | 441/18723 | 5.13e-05 | 8.25e-04 | 77 |
GO:001056316 | Endometrium | AEH | negative regulation of phosphorus metabolic process | 77/2100 | 442/18723 | 5.54e-05 | 8.79e-04 | 77 |
GO:011002016 | Endometrium | AEH | regulation of actomyosin structure organization | 25/2100 | 100/18723 | 8.41e-05 | 1.25e-03 | 25 |
GO:005134816 | Endometrium | AEH | negative regulation of transferase activity | 51/2100 | 268/18723 | 1.06e-04 | 1.52e-03 | 51 |
GO:003223310 | Endometrium | AEH | positive regulation of actin filament bundle assembly | 18/2100 | 63/18723 | 1.32e-04 | 1.80e-03 | 18 |
GO:000193315 | Endometrium | AEH | negative regulation of protein phosphorylation | 60/2100 | 342/18723 | 2.89e-04 | 3.31e-03 | 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 |
PPM1E | SNV | Missense_Mutation | | c.1053G>T | p.Gln351His | p.Q351H | Q8WY54 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
PPM1E | SNV | Missense_Mutation | | c.1633N>T | p.Arg545Cys | p.R545C | Q8WY54 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-A2-A0T3-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PPM1E | SNV | Missense_Mutation | | c.185N>T | p.Ser62Leu | p.S62L | Q8WY54 | protein_coding | tolerated_low_confidence(0.4) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PPM1E | SNV | Missense_Mutation | | c.1105N>G | p.Pro369Ala | p.P369A | Q8WY54 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AO-A03P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | PD |
PPM1E | SNV | Missense_Mutation | novel | c.1730N>T | p.Ala577Val | p.A577V | Q8WY54 | protein_coding | deleterious_low_confidence(0.04) | benign(0.079) | TCGA-E2-A155-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PPM1E | SNV | Missense_Mutation | | c.1412N>T | p.Ser471Leu | p.S471L | Q8WY54 | protein_coding | tolerated(0.08) | benign(0.159) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PPM1E | insertion | Nonsense_Mutation | novel | c.2262_2263insAATTTGAGGTAGGAGAACAGGAACCCCAGGCAGGG | p.Glu755AsnfsTer4 | p.E755Nfs*4 | Q8WY54 | protein_coding | | | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PPM1E | insertion | Frame_Shift_Ins | novel | c.1860_1861insCCTTGGGTCAGCCACATAACTCCTCCTGGCTTAAGGGAGTT | p.Ser621ProfsTer94 | p.S621Pfs*94 | Q8WY54 | protein_coding | | | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
PPM1E | insertion | Frame_Shift_Ins | novel | c.653_654insTCGCTTGAACCAGAGAGGCAGAGGTTGC | p.Lys218AsnfsTer23 | p.K218Nfs*23 | Q8WY54 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
PPM1E | insertion | In_Frame_Ins | novel | c.809_810insTTCAAAATTGCTGTTACA | p.Ala270_Val271insSerLysLeuLeuLeuGln | p.A270_V271insSKLLLQ | Q8WY54 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |