GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00971939 | Breast | Precancer | intrinsic apoptotic signaling pathway | 59/1080 | 288/18723 | 8.07e-18 | 3.60e-15 | 59 |
GO:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:20012429 | Breast | Precancer | regulation of intrinsic apoptotic signaling pathway | 41/1080 | 164/18723 | 6.48e-16 | 2.31e-13 | 41 |
GO:19026008 | Breast | Precancer | proton transmembrane transport | 39/1080 | 157/18723 | 4.18e-15 | 1.18e-12 | 39 |
GO:20012445 | Breast | Precancer | positive regulation of intrinsic apoptotic signaling pathway | 17/1080 | 58/18723 | 1.59e-08 | 1.12e-06 | 17 |
GO:20012356 | Breast | Precancer | positive regulation of apoptotic signaling pathway | 24/1080 | 126/18723 | 1.98e-07 | 1.01e-05 | 24 |
GO:00487329 | Breast | Precancer | gland development | 49/1080 | 436/18723 | 6.11e-06 | 1.73e-04 | 49 |
GO:00702933 | Breast | Precancer | renal absorption | 6/1080 | 17/18723 | 2.59e-04 | 3.83e-03 | 6 |
GO:00085445 | Breast | Precancer | epidermis development | 35/1080 | 324/18723 | 2.71e-04 | 3.96e-03 | 35 |
GO:00099136 | Breast | Precancer | epidermal cell differentiation | 23/1080 | 202/18723 | 1.43e-03 | 1.50e-02 | 23 |
GO:00434912 | Breast | Precancer | protein kinase B signaling | 23/1080 | 211/18723 | 2.53e-03 | 2.30e-02 | 23 |
GO:00158336 | Breast | Precancer | peptide transport | 27/1080 | 264/18723 | 2.84e-03 | 2.49e-02 | 27 |
GO:00347673 | Breast | Precancer | positive regulation of ion transmembrane transport | 19/1080 | 167/18723 | 3.60e-03 | 2.98e-02 | 19 |
GO:00071638 | Breast | Precancer | establishment or maintenance of cell polarity | 23/1080 | 218/18723 | 3.82e-03 | 3.06e-02 | 23 |
GO:00109596 | Breast | Precancer | regulation of metal ion transport | 37/1080 | 406/18723 | 4.07e-03 | 3.22e-02 | 37 |
GO:00020649 | Breast | Precancer | epithelial cell development | 23/1080 | 220/18723 | 4.28e-03 | 3.35e-02 | 23 |
GO:00228985 | Breast | Precancer | regulation of transmembrane transporter activity | 27/1080 | 278/18723 | 5.72e-03 | 4.11e-02 | 27 |
GO:00226049 | Breast | Precancer | regulation of cell morphogenesis | 29/1080 | 309/18723 | 6.88e-03 | 4.67e-02 | 29 |
GO:200123314 | Breast | IDC | regulation of apoptotic signaling pathway | 82/1434 | 356/18723 | 6.27e-20 | 5.93e-17 | 82 |
GO:009719314 | Breast | IDC | intrinsic apoptotic signaling pathway | 69/1434 | 288/18723 | 6.32e-18 | 2.99e-15 | 69 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05020 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa05171 | Colorectum | AD | Coronavirus disease - COVID-19 | 113/2092 | 232/8465 | 9.90e-16 | 2.55e-14 | 1.63e-14 | 113 |
hsa04810 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa050201 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa051711 | Colorectum | AD | Coronavirus disease - COVID-19 | 113/2092 | 232/8465 | 9.90e-16 | 2.55e-14 | 1.63e-14 | 113 |
hsa048101 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa050202 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa048102 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa050203 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa048103 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa050204 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa051714 | Colorectum | MSS | Coronavirus disease - COVID-19 | 108/1875 | 232/8465 | 6.50e-17 | 1.67e-15 | 1.03e-15 | 108 |
hsa048104 | Colorectum | MSS | Regulation of actin cytoskeleton | 68/1875 | 229/8465 | 4.27e-03 | 1.86e-02 | 1.14e-02 | 68 |
hsa050205 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa051715 | Colorectum | MSS | Coronavirus disease - COVID-19 | 108/1875 | 232/8465 | 6.50e-17 | 1.67e-15 | 1.03e-15 | 108 |
hsa048105 | Colorectum | MSS | Regulation of actin cytoskeleton | 68/1875 | 229/8465 | 4.27e-03 | 1.86e-02 | 1.14e-02 | 68 |
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 |
C9 | SNV | Missense_Mutation | | c.216N>C | p.Gln72His | p.Q72H | P02748 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | novel | c.1163N>A | p.Ser388Tyr | p.S388Y | P02748 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | | c.358N>C | p.Asn120His | p.N120H | P02748 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | novel | c.685N>A | p.Gln229Lys | p.Q229K | P02748 | protein_coding | tolerated(0.67) | benign(0.015) | TCGA-B5-A11V-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | novel | c.683N>C | p.Ile228Thr | p.I228T | P02748 | protein_coding | tolerated(0.21) | benign(0.015) | TCGA-B5-A11V-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | novel | c.341N>C | p.Lys114Thr | p.K114T | P02748 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | | c.1387A>G | p.Asn463Asp | p.N463D | P02748 | protein_coding | tolerated(0.64) | benign(0.001) | TCGA-BS-A0TC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | | c.702T>G | p.Asn234Lys | p.N234K | P02748 | protein_coding | tolerated(0.15) | benign(0.058) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | | c.1529N>A | p.Cys510Tyr | p.C510Y | P02748 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | rs148389506 | c.652N>A | p.Glu218Lys | p.E218K | P02748 | protein_coding | tolerated(0.07) | possibly_damaging(0.549) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |