GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003033033 | Thyroid | ATC | DNA damage response, signal transduction by p53 class mediator | 45/6293 | 72/18723 | 4.87e-07 | 7.03e-06 | 45 |
GO:200102214 | Thyroid | ATC | positive regulation of response to DNA damage stimulus | 59/6293 | 105/18723 | 1.62e-06 | 1.97e-05 | 59 |
GO:007145624 | Thyroid | ATC | cellular response to hypoxia | 78/6293 | 151/18723 | 3.44e-06 | 3.86e-05 | 78 |
GO:004328133 | Thyroid | ATC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 102/6293 | 209/18723 | 3.61e-06 | 4.03e-05 | 102 |
GO:0008637112 | Thyroid | ATC | apoptotic mitochondrial changes | 59/6293 | 107/18723 | 3.69e-06 | 4.10e-05 | 59 |
GO:0051881110 | Thyroid | ATC | regulation of mitochondrial membrane potential | 44/6293 | 74/18723 | 4.51e-06 | 4.94e-05 | 44 |
GO:1902041110 | Thyroid | ATC | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 32/6293 | 49/18723 | 5.63e-06 | 6.00e-05 | 32 |
GO:005254734 | Thyroid | ATC | regulation of peptidase activity | 200/6293 | 461/18723 | 6.25e-06 | 6.52e-05 | 200 |
GO:200011633 | Thyroid | ATC | regulation of cysteine-type endopeptidase activity | 111/6293 | 235/18723 | 9.41e-06 | 9.41e-05 | 111 |
GO:004351631 | Thyroid | ATC | regulation of DNA damage response, signal transduction by p53 class mediator | 24/6293 | 34/18723 | 1.15e-05 | 1.12e-04 | 24 |
GO:001082216 | Thyroid | ATC | positive regulation of mitochondrion organization | 43/6293 | 74/18723 | 1.30e-05 | 1.25e-04 | 43 |
GO:007259333 | Thyroid | ATC | reactive oxygen species metabolic process | 112/6293 | 239/18723 | 1.34e-05 | 1.28e-04 | 112 |
GO:001931814 | Thyroid | ATC | hexose metabolic process | 111/6293 | 237/18723 | 1.51e-05 | 1.41e-04 | 111 |
GO:000599615 | Thyroid | ATC | monosaccharide metabolic process | 118/6293 | 257/18723 | 2.56e-05 | 2.20e-04 | 118 |
GO:001095233 | Thyroid | ATC | positive regulation of peptidase activity | 94/6293 | 197/18723 | 2.67e-05 | 2.28e-04 | 94 |
GO:000600616 | Thyroid | ATC | glucose metabolic process | 93/6293 | 196/18723 | 3.85e-05 | 3.14e-04 | 93 |
GO:190223518 | Thyroid | ATC | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 22/6293 | 32/18723 | 5.14e-05 | 3.99e-04 | 22 |
GO:200124433 | Thyroid | ATC | positive regulation of intrinsic apoptotic signaling pathway | 34/6293 | 58/18723 | 8.05e-05 | 6.03e-04 | 34 |
GO:190589822 | Thyroid | ATC | positive regulation of response to endoplasmic reticulum stress | 23/6293 | 35/18723 | 1.03e-04 | 7.41e-04 | 23 |
GO:0046902110 | Thyroid | ATC | regulation of mitochondrial membrane permeability | 36/6293 | 63/18723 | 1.05e-04 | 7.55e-04 | 36 |
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 |