GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000862522 | Skin | cSCC | extrinsic apoptotic signaling pathway via death domain receptors | 36/4864 | 82/18723 | 3.22e-04 | 2.57e-03 | 36 |
GO:00902005 | Skin | cSCC | positive regulation of release of cytochrome c from mitochondria | 16/4864 | 28/18723 | 4.60e-04 | 3.50e-03 | 16 |
GO:0070059112 | Skin | cSCC | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 29/4864 | 63/18723 | 4.61e-04 | 3.50e-03 | 29 |
GO:0071453111 | Skin | cSCC | cellular response to oxygen levels | 66/4864 | 177/18723 | 5.79e-04 | 4.21e-03 | 66 |
GO:0043280111 | Skin | cSCC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 50/4864 | 129/18723 | 9.55e-04 | 6.47e-03 | 50 |
GO:190223510 | Skin | cSCC | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 17/4864 | 32/18723 | 9.55e-04 | 6.47e-03 | 17 |
GO:190179829 | Skin | cSCC | positive regulation of signal transduction by p53 class mediator | 14/4864 | 25/18723 | 1.37e-03 | 8.68e-03 | 14 |
GO:200105624 | Skin | cSCC | positive regulation of cysteine-type endopeptidase activity | 55/4864 | 148/18723 | 1.73e-03 | 1.06e-02 | 55 |
GO:004351616 | Skin | cSCC | regulation of DNA damage response, signal transduction by p53 class mediator | 17/4864 | 34/18723 | 2.27e-03 | 1.33e-02 | 17 |
GO:007145617 | Skin | cSCC | cellular response to hypoxia | 55/4864 | 151/18723 | 2.88e-03 | 1.61e-02 | 55 |
GO:0036294111 | Skin | cSCC | cellular response to decreased oxygen levels | 58/4864 | 161/18723 | 3.00e-03 | 1.66e-02 | 58 |
GO:007259319 | Skin | cSCC | reactive oxygen species metabolic process | 81/4864 | 239/18723 | 3.80e-03 | 2.03e-02 | 81 |
GO:000599610 | Skin | cSCC | monosaccharide metabolic process | 85/4864 | 257/18723 | 6.43e-03 | 3.14e-02 | 85 |
GO:190204322 | Skin | cSCC | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 8/4864 | 13/18723 | 7.25e-03 | 3.44e-02 | 8 |
GO:000600610 | Skin | cSCC | glucose metabolic process | 66/4864 | 196/18723 | 9.75e-03 | 4.32e-02 | 66 |
GO:0010498113 | Thyroid | PTC | proteasomal protein catabolic process | 297/5968 | 490/18723 | 4.58e-40 | 9.63e-37 | 297 |
GO:0034976113 | Thyroid | PTC | response to endoplasmic reticulum stress | 161/5968 | 256/18723 | 1.14e-24 | 3.27e-22 | 161 |
GO:2001233113 | Thyroid | PTC | regulation of apoptotic signaling pathway | 197/5968 | 356/18723 | 2.58e-20 | 3.69e-18 | 197 |
GO:000683928 | Thyroid | PTC | mitochondrial transport | 150/5968 | 254/18723 | 2.76e-19 | 3.34e-17 | 150 |
GO:0097193113 | Thyroid | PTC | intrinsic apoptotic signaling pathway | 164/5968 | 288/18723 | 9.17e-19 | 1.09e-16 | 164 |
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 |