GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000961522 | Skin | cSCC | response to virus | 152/4864 | 367/18723 | 5.88e-11 | 2.75e-09 | 152 |
GO:200123526 | Skin | cSCC | positive regulation of apoptotic signaling pathway | 66/4864 | 126/18723 | 2.19e-10 | 9.33e-09 | 66 |
GO:1905897112 | Skin | cSCC | regulation of response to endoplasmic reticulum stress | 47/4864 | 82/18723 | 1.78e-09 | 6.62e-08 | 47 |
GO:005254728 | Skin | cSCC | regulation of peptidase activity | 177/4864 | 461/18723 | 2.21e-09 | 8.02e-08 | 177 |
GO:200124425 | Skin | cSCC | positive regulation of intrinsic apoptotic signaling pathway | 36/4864 | 58/18723 | 7.51e-09 | 2.42e-07 | 36 |
GO:005254828 | Skin | cSCC | regulation of endopeptidase activity | 165/4864 | 432/18723 | 1.18e-08 | 3.63e-07 | 165 |
GO:007233228 | Skin | cSCC | intrinsic apoptotic signaling pathway by p53 class mediator | 43/4864 | 76/18723 | 1.48e-08 | 4.49e-07 | 43 |
GO:000863726 | Skin | cSCC | apoptotic mitochondrial changes | 55/4864 | 107/18723 | 1.63e-08 | 4.91e-07 | 55 |
GO:190179629 | Skin | cSCC | regulation of signal transduction by p53 class mediator | 49/4864 | 93/18723 | 3.49e-08 | 9.19e-07 | 49 |
GO:0010821111 | Skin | cSCC | regulation of mitochondrion organization | 67/4864 | 144/18723 | 7.99e-08 | 1.96e-06 | 67 |
GO:001095227 | Skin | cSCC | positive regulation of peptidase activity | 85/4864 | 197/18723 | 1.14e-07 | 2.69e-06 | 85 |
GO:004328128 | Skin | cSCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 89/4864 | 209/18723 | 1.20e-07 | 2.79e-06 | 89 |
GO:190589814 | Skin | cSCC | positive regulation of response to endoplasmic reticulum stress | 24/4864 | 35/18723 | 1.56e-07 | 3.51e-06 | 24 |
GO:007149628 | Skin | cSCC | cellular response to external stimulus | 125/4864 | 320/18723 | 1.63e-07 | 3.65e-06 | 125 |
GO:00516076 | Skin | cSCC | defense response to virus | 107/4864 | 265/18723 | 1.84e-07 | 4.02e-06 | 107 |
GO:01405466 | Skin | cSCC | defense response to symbiont | 107/4864 | 265/18723 | 1.84e-07 | 4.02e-06 | 107 |
GO:200011628 | Skin | cSCC | regulation of cysteine-type endopeptidase activity | 97/4864 | 235/18723 | 2.01e-07 | 4.34e-06 | 97 |
GO:007048226 | Skin | cSCC | response to oxygen levels | 133/4864 | 347/18723 | 2.39e-07 | 5.07e-06 | 133 |
GO:200123628 | Skin | cSCC | regulation of extrinsic apoptotic signaling pathway | 68/4864 | 151/18723 | 3.01e-07 | 6.12e-06 | 68 |
GO:009719128 | Skin | cSCC | extrinsic apoptotic signaling pathway | 91/4864 | 219/18723 | 3.31e-07 | 6.63e-06 | 91 |
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 |