GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0097193 | Colorectum | AD | intrinsic apoptotic signaling pathway | 108/3918 | 288/18723 | 6.25e-11 | 6.41e-09 | 108 |
GO:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:0051098 | Colorectum | AD | regulation of binding | 126/3918 | 363/18723 | 6.01e-10 | 4.88e-08 | 126 |
GO:0034976 | Colorectum | AD | response to endoplasmic reticulum stress | 90/3918 | 256/18723 | 8.48e-08 | 4.28e-06 | 90 |
GO:0043281 | Colorectum | AD | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 72/3918 | 209/18723 | 3.70e-06 | 1.03e-04 | 72 |
GO:2000116 | Colorectum | AD | regulation of cysteine-type endopeptidase activity | 79/3918 | 235/18723 | 3.74e-06 | 1.03e-04 | 79 |
GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
GO:0043393 | Colorectum | AD | regulation of protein binding | 68/3918 | 196/18723 | 5.17e-06 | 1.34e-04 | 68 |
GO:0010952 | Colorectum | AD | positive regulation of peptidase activity | 68/3918 | 197/18723 | 6.30e-06 | 1.59e-04 | 68 |
GO:0070059 | Colorectum | AD | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 29/3918 | 63/18723 | 7.03e-06 | 1.73e-04 | 29 |
GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
GO:0010950 | Colorectum | AD | positive regulation of endopeptidase activity | 59/3918 | 179/18723 | 1.11e-04 | 1.65e-03 | 59 |
GO:2001056 | Colorectum | AD | positive regulation of cysteine-type endopeptidase activity | 47/3918 | 148/18723 | 1.30e-03 | 1.14e-02 | 47 |
GO:0043280 | Colorectum | AD | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 42/3918 | 129/18723 | 1.33e-03 | 1.16e-02 | 42 |
GO:0051100 | Colorectum | AD | negative regulation of binding | 50/3918 | 162/18723 | 1.84e-03 | 1.51e-02 | 50 |
GO:0032091 | Colorectum | AD | negative regulation of protein binding | 30/3918 | 94/18723 | 8.26e-03 | 4.85e-02 | 30 |
GO:00458621 | Colorectum | SER | positive regulation of proteolysis | 106/2897 | 372/18723 | 8.40e-11 | 1.20e-08 | 106 |
GO:00971931 | Colorectum | SER | intrinsic apoptotic signaling pathway | 87/2897 | 288/18723 | 1.67e-10 | 2.32e-08 | 87 |
GO:00510981 | Colorectum | SER | regulation of binding | 97/2897 | 363/18723 | 1.98e-08 | 1.43e-06 | 97 |
GO:00349761 | Colorectum | SER | response to endoplasmic reticulum stress | 74/2897 | 256/18723 | 3.01e-08 | 2.05e-06 | 74 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05415 | Colorectum | AD | Diabetic cardiomyopathy | 114/2092 | 203/8465 | 3.65e-22 | 3.06e-20 | 1.95e-20 | 114 |
hsa05010 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa05017 | Colorectum | AD | Spinocerebellar ataxia | 60/2092 | 143/8465 | 3.78e-06 | 4.35e-05 | 2.78e-05 | 60 |
hsa04919 | Colorectum | AD | Thyroid hormone signaling pathway | 51/2092 | 121/8465 | 1.71e-05 | 1.73e-04 | 1.10e-04 | 51 |
hsa04260 | Colorectum | AD | Cardiac muscle contraction | 32/2092 | 87/8465 | 7.92e-03 | 3.13e-02 | 2.00e-02 | 32 |
hsa04972 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa054151 | Colorectum | AD | Diabetic cardiomyopathy | 114/2092 | 203/8465 | 3.65e-22 | 3.06e-20 | 1.95e-20 | 114 |
hsa050101 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa050171 | Colorectum | AD | Spinocerebellar ataxia | 60/2092 | 143/8465 | 3.78e-06 | 4.35e-05 | 2.78e-05 | 60 |
hsa049191 | Colorectum | AD | Thyroid hormone signaling pathway | 51/2092 | 121/8465 | 1.71e-05 | 1.73e-04 | 1.10e-04 | 51 |
hsa042601 | Colorectum | AD | Cardiac muscle contraction | 32/2092 | 87/8465 | 7.92e-03 | 3.13e-02 | 2.00e-02 | 32 |
hsa049721 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa054152 | Colorectum | SER | Diabetic cardiomyopathy | 103/1580 | 203/8465 | 1.45e-25 | 1.61e-23 | 1.17e-23 | 103 |
hsa050102 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050222 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa050172 | Colorectum | SER | Spinocerebellar ataxia | 46/1580 | 143/8465 | 6.78e-05 | 7.51e-04 | 5.45e-04 | 46 |
hsa049192 | Colorectum | SER | Thyroid hormone signaling pathway | 40/1580 | 121/8465 | 1.02e-04 | 1.06e-03 | 7.67e-04 | 40 |
hsa042602 | Colorectum | SER | Cardiac muscle contraction | 31/1580 | 87/8465 | 1.30e-04 | 1.30e-03 | 9.47e-04 | 31 |
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 |
ATP2A3 | SNV | Missense_Mutation | rs186227171 | c.3014C>T | p.Ser1005Leu | p.S1005L | Q93084 | protein_coding | tolerated_low_confidence(0.34) | benign(0) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP2A3 | SNV | Missense_Mutation | | c.1751T>G | p.Phe584Cys | p.F584C | Q93084 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ATP2A3 | SNV | Missense_Mutation | rs368619808 | c.2632G>A | p.Glu878Lys | p.E878K | Q93084 | protein_coding | tolerated(0.42) | benign(0.003) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP2A3 | SNV | Missense_Mutation | | c.1438C>T | p.Arg480Trp | p.R480W | Q93084 | protein_coding | deleterious(0) | possibly_damaging(0.663) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP2A3 | SNV | Missense_Mutation | | c.2326T>C | p.Phe776Leu | p.F776L | Q93084 | protein_coding | deleterious(0) | benign(0.027) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ATP2A3 | SNV | Missense_Mutation | novel | c.446A>G | p.Asp149Gly | p.D149G | Q93084 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-D1-A1NS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP2A3 | SNV | Missense_Mutation | rs770517233 | c.2171N>T | p.Thr724Met | p.T724M | Q93084 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-DF-A2KZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP2A3 | SNV | Missense_Mutation | novel | c.872N>A | p.Gly291Asp | p.G291D | Q93084 | protein_coding | deleterious(0) | possibly_damaging(0.459) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ATP2A3 | SNV | Missense_Mutation | novel | c.475N>T | p.Val159Leu | p.V159L | Q93084 | protein_coding | deleterious(0) | benign(0.357) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP2A3 | SNV | Missense_Mutation | novel | c.1285G>A | p.Glu429Lys | p.E429K | Q93084 | protein_coding | tolerated(0.08) | benign(0.056) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |