GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:200102212 | Prostate | Tumor | positive regulation of response to DNA damage stimulus | 28/3246 | 105/18723 | 1.08e-02 | 4.47e-02 | 28 |
GO:009719328 | Skin | AK | intrinsic apoptotic signaling pathway | 82/1910 | 288/18723 | 2.01e-18 | 2.97e-15 | 82 |
GO:200123328 | Skin | AK | regulation of apoptotic signaling pathway | 91/1910 | 356/18723 | 5.72e-17 | 4.84e-14 | 91 |
GO:200124228 | Skin | AK | regulation of intrinsic apoptotic signaling pathway | 54/1910 | 164/18723 | 1.64e-15 | 7.48e-13 | 54 |
GO:001049827 | Skin | AK | proteasomal protein catabolic process | 97/1910 | 490/18723 | 9.65e-11 | 1.54e-08 | 97 |
GO:005254727 | Skin | AK | regulation of peptidase activity | 88/1910 | 461/18723 | 4.65e-09 | 3.44e-07 | 88 |
GO:004586228 | Skin | AK | positive regulation of proteolysis | 74/1910 | 372/18723 | 1.32e-08 | 8.20e-07 | 74 |
GO:005254827 | Skin | AK | regulation of endopeptidase activity | 82/1910 | 432/18723 | 2.03e-08 | 1.18e-06 | 82 |
GO:200123520 | Skin | AK | positive regulation of apoptotic signaling pathway | 35/1910 | 126/18723 | 2.31e-08 | 1.29e-06 | 35 |
GO:200123627 | Skin | AK | regulation of extrinsic apoptotic signaling pathway | 39/1910 | 151/18723 | 3.37e-08 | 1.80e-06 | 39 |
GO:007233128 | Skin | AK | signal transduction by p53 class mediator | 41/1910 | 163/18723 | 3.41e-08 | 1.80e-06 | 41 |
GO:200124418 | Skin | AK | positive regulation of intrinsic apoptotic signaling pathway | 21/1910 | 58/18723 | 1.10e-07 | 4.95e-06 | 21 |
GO:007149627 | Skin | AK | cellular response to external stimulus | 63/1910 | 320/18723 | 2.30e-07 | 9.13e-06 | 63 |
GO:004887228 | Skin | AK | homeostasis of number of cells | 56/1910 | 272/18723 | 2.33e-07 | 9.18e-06 | 56 |
GO:009719127 | Skin | AK | extrinsic apoptotic signaling pathway | 47/1910 | 219/18723 | 6.14e-07 | 2.16e-05 | 47 |
GO:007233227 | Skin | AK | intrinsic apoptotic signaling pathway by p53 class mediator | 23/1910 | 76/18723 | 1.12e-06 | 3.54e-05 | 23 |
GO:200011627 | Skin | AK | regulation of cysteine-type endopeptidase activity | 48/1910 | 235/18723 | 2.09e-06 | 6.01e-05 | 48 |
GO:004328127 | Skin | AK | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 44/1910 | 209/18723 | 2.38e-06 | 6.65e-05 | 44 |
GO:190179628 | Skin | AK | regulation of signal transduction by p53 class mediator | 25/1910 | 93/18723 | 4.33e-06 | 1.05e-04 | 25 |
GO:000961519 | Skin | AK | response to virus | 63/1910 | 367/18723 | 2.53e-05 | 4.54e-04 | 63 |
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 |