GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:009019910 | Thyroid | PTC | regulation of release of cytochrome c from mitochondria | 25/5968 | 48/18723 | 2.86e-03 | 1.42e-02 | 25 |
GO:00069198 | Thyroid | PTC | activation of cysteine-type endopeptidase activity involved in apoptotic process | 37/5968 | 78/18723 | 2.91e-03 | 1.44e-02 | 37 |
GO:004351617 | Thyroid | PTC | regulation of DNA damage response, signal transduction by p53 class mediator | 19/5968 | 34/18723 | 3.21e-03 | 1.57e-02 | 19 |
GO:00433312 | Thyroid | PTC | response to dsRNA | 26/5968 | 55/18723 | 1.21e-02 | 4.75e-02 | 26 |
GO:00109066 | Thyroid | PTC | regulation of glucose metabolic process | 50/5968 | 119/18723 | 1.25e-02 | 4.88e-02 | 50 |
GO:001049832 | Thyroid | ATC | proteasomal protein catabolic process | 309/6293 | 490/18723 | 1.78e-41 | 1.13e-37 | 309 |
GO:003497633 | Thyroid | ATC | response to endoplasmic reticulum stress | 167/6293 | 256/18723 | 2.62e-25 | 1.03e-22 | 167 |
GO:200123335 | Thyroid | ATC | regulation of apoptotic signaling pathway | 206/6293 | 356/18723 | 2.81e-21 | 5.92e-19 | 206 |
GO:009719335 | Thyroid | ATC | intrinsic apoptotic signaling pathway | 171/6293 | 288/18723 | 1.86e-19 | 2.67e-17 | 171 |
GO:007048228 | Thyroid | ATC | response to oxygen levels | 193/6293 | 347/18723 | 1.83e-17 | 1.93e-15 | 193 |
GO:000683929 | Thyroid | ATC | mitochondrial transport | 151/6293 | 254/18723 | 2.07e-17 | 2.14e-15 | 151 |
GO:004586234 | Thyroid | ATC | positive regulation of proteolysis | 202/6293 | 372/18723 | 1.07e-16 | 9.42e-15 | 202 |
GO:003629328 | Thyroid | ATC | response to decreased oxygen levels | 177/6293 | 322/18723 | 1.81e-15 | 1.32e-13 | 177 |
GO:000166628 | Thyroid | ATC | response to hypoxia | 169/6293 | 307/18723 | 6.58e-15 | 4.12e-13 | 169 |
GO:200124233 | Thyroid | ATC | regulation of intrinsic apoptotic signaling pathway | 103/6293 | 164/18723 | 1.67e-14 | 9.77e-13 | 103 |
GO:007233135 | Thyroid | ATC | signal transduction by p53 class mediator | 102/6293 | 163/18723 | 3.16e-14 | 1.75e-12 | 102 |
GO:190179635 | Thyroid | ATC | regulation of signal transduction by p53 class mediator | 66/6293 | 93/18723 | 1.86e-13 | 9.20e-12 | 66 |
GO:0097191210 | Thyroid | ATC | extrinsic apoptotic signaling pathway | 125/6293 | 219/18723 | 7.19e-13 | 3.16e-11 | 125 |
GO:0071496210 | Thyroid | ATC | cellular response to external stimulus | 165/6293 | 320/18723 | 2.01e-11 | 7.23e-10 | 165 |
GO:200102026 | Thyroid | ATC | regulation of response to DNA damage stimulus | 121/6293 | 219/18723 | 3.22e-11 | 1.08e-09 | 121 |
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 |