GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005254723 | Breast | DCIS | regulation of peptidase activity | 88/1390 | 461/18723 | 1.18e-16 | 4.78e-14 | 88 |
GO:200124224 | Breast | DCIS | regulation of intrinsic apoptotic signaling pathway | 47/1390 | 164/18723 | 2.49e-16 | 9.38e-14 | 47 |
GO:005254823 | Breast | DCIS | regulation of endopeptidase activity | 83/1390 | 432/18723 | 6.07e-16 | 2.15e-13 | 83 |
GO:200011623 | Breast | DCIS | regulation of cysteine-type endopeptidase activity | 54/1390 | 235/18723 | 4.56e-14 | 1.29e-11 | 54 |
GO:004328123 | Breast | DCIS | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 49/1390 | 209/18723 | 3.05e-13 | 7.19e-11 | 49 |
GO:003629323 | Breast | DCIS | response to decreased oxygen levels | 60/1390 | 322/18723 | 2.64e-11 | 4.56e-09 | 60 |
GO:007048223 | Breast | DCIS | response to oxygen levels | 63/1390 | 347/18723 | 2.66e-11 | 4.56e-09 | 63 |
GO:000166623 | Breast | DCIS | response to hypoxia | 58/1390 | 307/18723 | 3.19e-11 | 5.16e-09 | 58 |
GO:000683923 | Breast | DCIS | mitochondrial transport | 51/1390 | 254/18723 | 5.04e-11 | 6.79e-09 | 51 |
GO:004586224 | Breast | DCIS | positive regulation of proteolysis | 65/1390 | 372/18723 | 7.13e-11 | 9.17e-09 | 65 |
GO:001049824 | Breast | DCIS | proteasomal protein catabolic process | 75/1390 | 490/18723 | 1.44e-09 | 1.40e-07 | 75 |
GO:200123523 | Breast | DCIS | positive regulation of apoptotic signaling pathway | 31/1390 | 126/18723 | 1.96e-09 | 1.76e-07 | 31 |
GO:000863722 | Breast | DCIS | apoptotic mitochondrial changes | 27/1390 | 107/18723 | 1.19e-08 | 8.75e-07 | 27 |
GO:001095222 | Breast | DCIS | positive regulation of peptidase activity | 39/1390 | 197/18723 | 1.40e-08 | 1.02e-06 | 39 |
GO:003629422 | Breast | DCIS | cellular response to decreased oxygen levels | 34/1390 | 161/18723 | 2.21e-08 | 1.49e-06 | 34 |
GO:007145622 | Breast | DCIS | cellular response to hypoxia | 32/1390 | 151/18723 | 5.21e-08 | 3.17e-06 | 32 |
GO:004328022 | Breast | DCIS | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 29/1390 | 129/18723 | 5.61e-08 | 3.38e-06 | 29 |
GO:007145322 | Breast | DCIS | cellular response to oxygen levels | 35/1390 | 177/18723 | 7.89e-08 | 4.47e-06 | 35 |
GO:009719123 | Breast | DCIS | extrinsic apoptotic signaling pathway | 40/1390 | 219/18723 | 9.43e-08 | 5.28e-06 | 40 |
GO:001095022 | Breast | DCIS | positive regulation of endopeptidase activity | 35/1390 | 179/18723 | 1.06e-07 | 5.86e-06 | 35 |
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 |