GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003166822 | Breast | DCIS | cellular response to extracellular stimulus | 35/1390 | 246/18723 | 1.54e-04 | 2.59e-03 | 35 |
GO:004690222 | Breast | DCIS | regulation of mitochondrial membrane permeability | 14/1390 | 63/18723 | 1.71e-04 | 2.84e-03 | 14 |
GO:007005922 | Breast | DCIS | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 14/1390 | 63/18723 | 1.71e-04 | 2.84e-03 | 14 |
GO:00109172 | Breast | DCIS | negative regulation of mitochondrial membrane potential | 6/1390 | 13/18723 | 1.80e-04 | 2.96e-03 | 6 |
GO:001082122 | Breast | DCIS | regulation of mitochondrion organization | 23/1390 | 144/18723 | 3.86e-04 | 5.36e-03 | 23 |
GO:004887224 | Breast | DCIS | homeostasis of number of cells | 36/1390 | 272/18723 | 5.17e-04 | 6.73e-03 | 36 |
GO:000961512 | Breast | DCIS | response to virus | 45/1390 | 367/18723 | 6.16e-04 | 7.82e-03 | 45 |
GO:190204121 | Breast | DCIS | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 11/1390 | 49/18723 | 7.63e-04 | 8.95e-03 | 11 |
GO:200102023 | Breast | DCIS | regulation of response to DNA damage stimulus | 30/1390 | 219/18723 | 8.32e-04 | 9.47e-03 | 30 |
GO:190204311 | Breast | DCIS | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 5/1390 | 13/18723 | 1.74e-03 | 1.70e-02 | 5 |
GO:190223512 | Breast | DCIS | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 8/1390 | 32/18723 | 1.90e-03 | 1.81e-02 | 8 |
GO:003033023 | Breast | DCIS | DNA damage response, signal transduction by p53 class mediator | 13/1390 | 72/18723 | 2.26e-03 | 2.07e-02 | 13 |
GO:004351621 | Breast | DCIS | regulation of DNA damage response, signal transduction by p53 class mediator | 8/1390 | 34/18723 | 2.87e-03 | 2.48e-02 | 8 |
GO:00902002 | Breast | DCIS | positive regulation of release of cytochrome c from mitochondria | 7/1390 | 28/18723 | 3.63e-03 | 2.94e-02 | 7 |
GO:003166922 | Breast | DCIS | cellular response to nutrient levels | 27/1390 | 215/18723 | 5.06e-03 | 3.74e-02 | 27 |
GO:000600612 | Breast | DCIS | glucose metabolic process | 25/1390 | 196/18723 | 5.59e-03 | 4.06e-02 | 25 |
GO:006201213 | Breast | DCIS | regulation of small molecule metabolic process | 38/1390 | 334/18723 | 5.69e-03 | 4.10e-02 | 38 |
GO:000926713 | Breast | DCIS | cellular response to starvation | 21/1390 | 156/18723 | 5.74e-03 | 4.13e-02 | 21 |
GO:00423911 | Breast | DCIS | regulation of membrane potential | 47/1390 | 434/18723 | 5.87e-03 | 4.20e-02 | 47 |
GO:000862512 | Breast | DCIS | extrinsic apoptotic signaling pathway via death domain receptors | 13/1390 | 82/18723 | 7.16e-03 | 4.85e-02 | 13 |
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 |