GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:009019912 | Breast | IDC | regulation of release of cytochrome c from mitochondria | 12/1434 | 48/18723 | 2.03e-04 | 3.32e-03 | 12 |
GO:20012385 | Breast | IDC | positive regulation of extrinsic apoptotic signaling pathway | 12/1434 | 48/18723 | 2.03e-04 | 3.32e-03 | 12 |
GO:00109171 | Breast | IDC | negative regulation of mitochondrial membrane potential | 6/1434 | 13/18723 | 2.14e-04 | 3.45e-03 | 6 |
GO:004690213 | Breast | IDC | regulation of mitochondrial membrane permeability | 14/1434 | 63/18723 | 2.37e-04 | 3.75e-03 | 14 |
GO:007005914 | Breast | IDC | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 14/1434 | 63/18723 | 2.37e-04 | 3.75e-03 | 14 |
GO:003166814 | Breast | IDC | cellular response to extracellular stimulus | 35/1434 | 246/18723 | 2.79e-04 | 4.26e-03 | 35 |
GO:00096157 | Breast | IDC | response to virus | 47/1434 | 367/18723 | 3.53e-04 | 5.16e-03 | 47 |
GO:001082113 | Breast | IDC | regulation of mitochondrion organization | 23/1434 | 144/18723 | 5.96e-04 | 7.54e-03 | 23 |
GO:004887214 | Breast | IDC | homeostasis of number of cells | 36/1434 | 272/18723 | 9.10e-04 | 1.04e-02 | 36 |
GO:190204112 | Breast | IDC | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 11/1434 | 49/18723 | 9.88e-04 | 1.11e-02 | 11 |
GO:200102013 | Breast | IDC | regulation of response to DNA damage stimulus | 30/1434 | 219/18723 | 1.36e-03 | 1.40e-02 | 30 |
GO:19020432 | Breast | IDC | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 5/1434 | 13/18723 | 2.00e-03 | 1.90e-02 | 5 |
GO:19022355 | Breast | IDC | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 8/1434 | 32/18723 | 2.32e-03 | 2.10e-02 | 8 |
GO:003033014 | Breast | IDC | DNA damage response, signal transduction by p53 class mediator | 13/1434 | 72/18723 | 2.97e-03 | 2.57e-02 | 13 |
GO:004351612 | Breast | IDC | regulation of DNA damage response, signal transduction by p53 class mediator | 8/1434 | 34/18723 | 3.49e-03 | 2.89e-02 | 8 |
GO:003166914 | Breast | IDC | cellular response to nutrient levels | 28/1434 | 215/18723 | 4.02e-03 | 3.25e-02 | 28 |
GO:00423912 | Breast | IDC | regulation of membrane potential | 49/1434 | 434/18723 | 4.04e-03 | 3.25e-02 | 49 |
GO:00902001 | Breast | IDC | positive regulation of release of cytochrome c from mitochondria | 7/1434 | 28/18723 | 4.31e-03 | 3.35e-02 | 7 |
GO:200123324 | Breast | DCIS | regulation of apoptotic signaling pathway | 81/1390 | 356/18723 | 3.51e-20 | 3.31e-17 | 81 |
GO:009719324 | Breast | DCIS | intrinsic apoptotic signaling pathway | 68/1390 | 288/18723 | 4.93e-18 | 2.33e-15 | 68 |
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 |