GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00104989 | Breast | Precancer | proteasomal protein catabolic process | 58/1080 | 490/18723 | 1.54e-07 | 8.05e-06 | 58 |
GO:20012356 | Breast | Precancer | positive regulation of apoptotic signaling pathway | 24/1080 | 126/18723 | 1.98e-07 | 1.01e-05 | 24 |
GO:00432808 | Breast | Precancer | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 24/1080 | 129/18723 | 3.13e-07 | 1.50e-05 | 24 |
GO:00109509 | Breast | Precancer | positive regulation of endopeptidase activity | 29/1080 | 179/18723 | 4.23e-07 | 1.90e-05 | 29 |
GO:19017989 | Breast | Precancer | positive regulation of signal transduction by p53 class mediator | 10/1080 | 25/18723 | 5.77e-07 | 2.49e-05 | 10 |
GO:20010568 | Breast | Precancer | positive regulation of cysteine-type endopeptidase activity | 25/1080 | 148/18723 | 1.19e-06 | 4.60e-05 | 25 |
GO:19017969 | Breast | Precancer | regulation of signal transduction by p53 class mediator | 19/1080 | 93/18723 | 1.20e-06 | 4.60e-05 | 19 |
GO:00723319 | Breast | Precancer | signal transduction by p53 class mediator | 26/1080 | 163/18723 | 2.23e-06 | 7.76e-05 | 26 |
GO:00018367 | Breast | Precancer | release of cytochrome c from mitochondria | 14/1080 | 59/18723 | 4.80e-06 | 1.47e-04 | 14 |
GO:00723328 | Breast | Precancer | intrinsic apoptotic signaling pathway by p53 class mediator | 16/1080 | 76/18723 | 5.49e-06 | 1.63e-04 | 16 |
GO:20012369 | Breast | Precancer | regulation of extrinsic apoptotic signaling pathway | 24/1080 | 151/18723 | 5.78e-06 | 1.70e-04 | 24 |
GO:00971919 | Breast | Precancer | extrinsic apoptotic signaling pathway | 30/1080 | 219/18723 | 9.42e-06 | 2.50e-04 | 30 |
GO:00070066 | Breast | Precancer | mitochondrial membrane organization | 20/1080 | 116/18723 | 9.88e-06 | 2.61e-04 | 20 |
GO:19058979 | Breast | Precancer | regulation of response to endoplasmic reticulum stress | 16/1080 | 82/18723 | 1.53e-05 | 3.75e-04 | 16 |
GO:00905595 | Breast | Precancer | regulation of membrane permeability | 15/1080 | 78/18723 | 3.35e-05 | 7.29e-04 | 15 |
GO:0010917 | Breast | Precancer | negative regulation of mitochondrial membrane potential | 6/1080 | 13/18723 | 4.39e-05 | 9.40e-04 | 6 |
GO:00725938 | Breast | Precancer | reactive oxygen species metabolic process | 30/1080 | 239/18723 | 5.13e-05 | 1.07e-03 | 30 |
GO:00469025 | Breast | Precancer | regulation of mitochondrial membrane permeability | 13/1080 | 63/18723 | 5.13e-05 | 1.07e-03 | 13 |
GO:0045837 | Breast | Precancer | negative regulation of membrane potential | 6/1080 | 14/18723 | 7.30e-05 | 1.44e-03 | 6 |
GO:00488729 | Breast | Precancer | homeostasis of number of cells | 32/1080 | 272/18723 | 1.03e-04 | 1.89e-03 | 32 |
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 |
MAIP1 | SNV | Missense_Mutation | | c.742N>T | p.Val248Phe | p.V248F | Q8WWC4 | protein_coding | tolerated(0.08) | benign(0.233) | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
MAIP1 | SNV | Missense_Mutation | | c.340N>A | p.Gly114Arg | p.G114R | Q8WWC4 | protein_coding | deleterious(0.03) | possibly_damaging(0.905) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | novel | c.608N>C | p.Phe203Ser | p.F203S | Q8WWC4 | protein_coding | deleterious(0) | benign(0.091) | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | novel | c.781N>A | p.Leu261Ile | p.L261I | Q8WWC4 | protein_coding | tolerated(0.07) | possibly_damaging(0.521) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | | c.363N>T | p.Trp121Cys | p.W121C | Q8WWC4 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-BH-A0HY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | taxotere | CR |
MAIP1 | SNV | Missense_Mutation | | c.520G>C | p.Glu174Gln | p.E174Q | Q8WWC4 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
MAIP1 | insertion | Frame_Shift_Ins | novel | c.607_608insCTCA | p.Phe203SerfsTer13 | p.F203Sfs*13 | Q8WWC4 | protein_coding | | | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
MAIP1 | insertion | Frame_Shift_Ins | novel | c.646_647insTGGC | p.Lys216MetfsTer8 | p.K216Mfs*8 | Q8WWC4 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | insertion | Frame_Shift_Ins | novel | c.647_648insGCCTAGATTTC | p.Gly217ProfsTer12 | p.G217Pfs*12 | Q8WWC4 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | novel | c.37N>T | p.His13Tyr | p.H13Y | Q8WWC4 | protein_coding | deleterious_low_confidence(0.02) | benign(0.006) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |