GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003629325 | Skin | AK | response to decreased oxygen levels | 51/1910 | 322/18723 | 9.99e-04 | 7.88e-03 | 51 |
GO:000166625 | Skin | AK | response to hypoxia | 49/1910 | 307/18723 | 1.05e-03 | 8.20e-03 | 49 |
GO:000862520 | Skin | AK | extrinsic apoptotic signaling pathway via death domain receptors | 18/1910 | 82/18723 | 1.32e-03 | 9.92e-03 | 18 |
GO:00435169 | Skin | AK | regulation of DNA damage response, signal transduction by p53 class mediator | 10/1910 | 34/18723 | 1.57e-03 | 1.13e-02 | 10 |
GO:007048225 | Skin | AK | response to oxygen levels | 53/1910 | 347/18723 | 1.84e-03 | 1.27e-02 | 53 |
GO:009055910 | Skin | AK | regulation of membrane permeability | 17/1910 | 78/18723 | 1.93e-03 | 1.31e-02 | 17 |
GO:19058986 | Skin | AK | positive regulation of response to endoplasmic reticulum stress | 10/1910 | 35/18723 | 2.00e-03 | 1.35e-02 | 10 |
GO:000926720 | Skin | AK | cellular response to starvation | 28/1910 | 156/18723 | 2.15e-03 | 1.43e-02 | 28 |
GO:004259420 | Skin | AK | response to starvation | 32/1910 | 197/18723 | 5.47e-03 | 3.02e-02 | 32 |
GO:004328024 | Skin | AK | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 23/1910 | 129/18723 | 5.54e-03 | 3.05e-02 | 23 |
GO:000183620 | Skin | AK | release of cytochrome c from mitochondria | 13/1910 | 59/18723 | 5.70e-03 | 3.12e-02 | 13 |
GO:003629420 | Skin | AK | cellular response to decreased oxygen levels | 27/1910 | 161/18723 | 6.64e-03 | 3.50e-02 | 27 |
GO:007145320 | Skin | AK | cellular response to oxygen levels | 29/1910 | 177/18723 | 7.00e-03 | 3.63e-02 | 29 |
GO:00109174 | Skin | AK | negative regulation of mitochondrial membrane potential | 5/1910 | 13/18723 | 7.01e-03 | 3.63e-02 | 5 |
GO:00458374 | Skin | AK | negative regulation of membrane potential | 5/1910 | 14/18723 | 1.00e-02 | 4.80e-02 | 5 |
GO:004690210 | Skin | AK | regulation of mitochondrial membrane permeability | 13/1910 | 63/18723 | 1.01e-02 | 4.81e-02 | 13 |
GO:007005924 | Skin | AK | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 13/1910 | 63/18723 | 1.01e-02 | 4.81e-02 | 13 |
GO:2001233112 | Skin | SCCIS | regulation of apoptotic signaling pathway | 51/919 | 356/18723 | 5.51e-12 | 7.43e-09 | 51 |
GO:0097193112 | Skin | SCCIS | intrinsic apoptotic signaling pathway | 42/919 | 288/18723 | 2.40e-10 | 2.12e-07 | 42 |
GO:2001242112 | Skin | SCCIS | regulation of intrinsic apoptotic signaling pathway | 28/919 | 164/18723 | 7.32e-09 | 2.95e-06 | 28 |
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 |