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 | insertion | Frame_Shift_Ins | novel | c.1317_1318insTCCCTAACAGTTGCCTCTGCCTTTGCTT | p.Thr440SerfsTer14 | p.T440Sfs*14 | Q8WY54 | protein_coding | | | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD |
PPM1E | deletion | Frame_Shift_Del | novel | c.1363delN | p.Glu456ArgfsTer13 | p.E456Rfs*13 | Q8WY54 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PPM1E | insertion | Nonsense_Mutation | novel | c.495_496insCAGGTAAGGTGTATGTTGAAATTTTGCCAATTATCTTAATAAAACCTG | p.Leu165_Ala166insGlnValArgCysMetLeuLysPheCysGlnLeuSerTerTerAsnLeu | p.L165_A166insQVRCMLKFCQLS**NL | Q8WY54 | protein_coding | | | TCGA-UL-AAZ6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | herceptin | SD |
PPM1E | SNV | Missense_Mutation | novel | c.896N>T | p.Pro299Leu | p.P299L | Q8WY54 | protein_coding | tolerated(0.22) | benign(0.018) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PPM1E | SNV | Missense_Mutation | novel | c.2096N>G | p.Lys699Arg | p.K699R | Q8WY54 | protein_coding | tolerated_low_confidence(0.23) | benign(0.006) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PPM1E | SNV | Missense_Mutation | | c.1525N>G | p.Gln509Glu | p.Q509E | Q8WY54 | protein_coding | tolerated_low_confidence(0.06) | benign(0.006) | TCGA-EK-A2H0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PPM1E | SNV | Missense_Mutation | | c.1130G>C | p.Arg377Thr | p.R377T | Q8WY54 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PPM1E | SNV | Missense_Mutation | | c.1525N>G | p.Gln509Glu | p.Q509E | Q8WY54 | protein_coding | tolerated_low_confidence(0.06) | benign(0.006) | TCGA-ZJ-A8QQ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
PPM1E | SNV | Missense_Mutation | | c.1975N>A | p.Ser659Thr | p.S659T | Q8WY54 | protein_coding | tolerated_low_confidence(0.16) | benign(0.061) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PPM1E | SNV | Missense_Mutation | rs541132971 | c.1515N>T | p.Glu505Asp | p.E505D | Q8WY54 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.962) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |