GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0072331110 | Oral cavity | LP | signal transduction by p53 class mediator | 72/4623 | 163/18723 | 3.99e-08 | 1.41e-06 | 72 |
GO:001082118 | Oral cavity | LP | regulation of mitochondrion organization | 65/4623 | 144/18723 | 6.61e-08 | 2.24e-06 | 65 |
GO:000183617 | Oral cavity | LP | release of cytochrome c from mitochondria | 34/4623 | 59/18723 | 6.91e-08 | 2.33e-06 | 34 |
GO:200124416 | Oral cavity | LP | positive regulation of intrinsic apoptotic signaling pathway | 33/4623 | 58/18723 | 1.63e-07 | 5.11e-06 | 33 |
GO:000863719 | Oral cavity | LP | apoptotic mitochondrial changes | 51/4623 | 107/18723 | 2.07e-07 | 6.33e-06 | 51 |
GO:0031667110 | Oral cavity | LP | response to nutrient levels | 165/4623 | 474/18723 | 3.87e-07 | 1.12e-05 | 165 |
GO:0072332110 | Oral cavity | LP | intrinsic apoptotic signaling pathway by p53 class mediator | 39/4623 | 76/18723 | 5.10e-07 | 1.40e-05 | 39 |
GO:200105619 | Oral cavity | LP | positive regulation of cysteine-type endopeptidase activity | 64/4623 | 148/18723 | 5.60e-07 | 1.51e-05 | 64 |
GO:004328019 | Oral cavity | LP | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 57/4623 | 129/18723 | 9.81e-07 | 2.48e-05 | 57 |
GO:0070059110 | Oral cavity | LP | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 33/4623 | 63/18723 | 2.09e-06 | 4.76e-05 | 33 |
GO:2001236110 | Oral cavity | LP | regulation of extrinsic apoptotic signaling pathway | 63/4623 | 151/18723 | 2.98e-06 | 6.47e-05 | 63 |
GO:190223515 | Oral cavity | LP | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 20/4623 | 32/18723 | 6.39e-06 | 1.26e-04 | 20 |
GO:005188116 | Oral cavity | LP | regulation of mitochondrial membrane potential | 36/4623 | 74/18723 | 6.85e-06 | 1.34e-04 | 36 |
GO:0070482110 | Oral cavity | LP | response to oxygen levels | 122/4623 | 347/18723 | 7.10e-06 | 1.37e-04 | 122 |
GO:005160711 | Oral cavity | LP | defense response to virus | 97/4623 | 265/18723 | 9.31e-06 | 1.74e-04 | 97 |
GO:014054611 | Oral cavity | LP | defense response to symbiont | 97/4623 | 265/18723 | 9.31e-06 | 1.74e-04 | 97 |
GO:0031668110 | Oral cavity | LP | cellular response to extracellular stimulus | 91/4623 | 246/18723 | 1.07e-05 | 1.94e-04 | 91 |
GO:009019913 | Oral cavity | LP | regulation of release of cytochrome c from mitochondria | 26/4623 | 48/18723 | 1.13e-05 | 2.04e-04 | 26 |
GO:1901796110 | Oral cavity | LP | regulation of signal transduction by p53 class mediator | 42/4623 | 93/18723 | 1.31e-05 | 2.33e-04 | 42 |
GO:200102018 | Oral cavity | LP | regulation of response to DNA damage stimulus | 82/4623 | 219/18723 | 1.71e-05 | 2.97e-04 | 82 |
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 |