GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0043154 | Colorectum | AD | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 30/3918 | 78/18723 | 2.95e-04 | 3.59e-03 | 30 |
GO:0035304 | Colorectum | AD | regulation of protein dephosphorylation | 33/3918 | 90/18723 | 4.23e-04 | 4.77e-03 | 33 |
GO:0043388 | Colorectum | AD | positive regulation of DNA binding | 23/3918 | 56/18723 | 4.91e-04 | 5.32e-03 | 23 |
GO:0007249 | Colorectum | AD | I-kappaB kinase/NF-kappaB signaling | 82/3918 | 281/18723 | 6.09e-04 | 6.40e-03 | 82 |
GO:2000117 | Colorectum | AD | negative regulation of cysteine-type endopeptidase activity | 31/3918 | 86/18723 | 8.67e-04 | 8.45e-03 | 31 |
GO:0001919 | Colorectum | AD | regulation of receptor recycling | 12/3918 | 23/18723 | 9.11e-04 | 8.71e-03 | 12 |
GO:0008361 | Colorectum | AD | regulation of cell size | 56/3918 | 181/18723 | 9.61e-04 | 9.07e-03 | 56 |
GO:0061462 | Colorectum | AD | protein localization to lysosome | 19/3918 | 46/18723 | 1.36e-03 | 1.19e-02 | 19 |
GO:0010876 | Colorectum | AD | lipid localization | 120/3918 | 448/18723 | 1.59e-03 | 1.33e-02 | 120 |
GO:0006869 | Colorectum | AD | lipid transport | 108/3918 | 398/18723 | 1.67e-03 | 1.39e-02 | 108 |
GO:0035306 | Colorectum | AD | positive regulation of dephosphorylation | 22/3918 | 59/18723 | 2.86e-03 | 2.14e-02 | 22 |
GO:0051091 | Colorectum | AD | positive regulation of DNA-binding transcription factor activity | 73/3918 | 260/18723 | 3.52e-03 | 2.54e-02 | 73 |
GO:0007033 | Colorectum | AD | vacuole organization | 53/3918 | 180/18723 | 4.18e-03 | 2.89e-02 | 53 |
GO:1902414 | Colorectum | AD | protein localization to cell junction | 31/3918 | 94/18723 | 4.30e-03 | 2.95e-02 | 31 |
GO:0008202 | Colorectum | AD | steroid metabolic process | 85/3918 | 319/18723 | 8.07e-03 | 4.75e-02 | 85 |
GO:00325351 | Colorectum | SER | regulation of cellular component size | 115/2897 | 383/18723 | 3.04e-13 | 1.10e-10 | 115 |
GO:00160321 | Colorectum | SER | viral process | 118/2897 | 415/18723 | 8.36e-12 | 1.65e-09 | 118 |
GO:19038291 | Colorectum | SER | positive regulation of cellular protein localization | 86/2897 | 276/18723 | 3.61e-11 | 6.11e-09 | 86 |
GO:00510981 | Colorectum | SER | regulation of binding | 97/2897 | 363/18723 | 1.98e-08 | 1.43e-06 | 97 |
GO:00190581 | Colorectum | SER | viral life cycle | 87/2897 | 317/18723 | 2.82e-08 | 1.94e-06 | 87 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0120021 | Liver | Cirrhotic | Carbon metabolism | 64/2530 | 115/8465 | 6.37e-09 | 1.18e-07 | 7.26e-08 | 64 |
hsa006304 | Liver | Cirrhotic | Glyoxylate and dicarboxylate metabolism | 20/2530 | 30/8465 | 3.36e-05 | 2.54e-04 | 1.57e-04 | 20 |
hsa00260 | Liver | Cirrhotic | Glycine, serine and threonine metabolism | 22/2530 | 40/8465 | 7.85e-04 | 4.51e-03 | 2.78e-03 | 22 |
hsa0120031 | Liver | Cirrhotic | Carbon metabolism | 64/2530 | 115/8465 | 6.37e-09 | 1.18e-07 | 7.26e-08 | 64 |
hsa0063011 | Liver | Cirrhotic | Glyoxylate and dicarboxylate metabolism | 20/2530 | 30/8465 | 3.36e-05 | 2.54e-04 | 1.57e-04 | 20 |
hsa002601 | Liver | Cirrhotic | Glycine, serine and threonine metabolism | 22/2530 | 40/8465 | 7.85e-04 | 4.51e-03 | 2.78e-03 | 22 |
hsa0120041 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0063021 | Liver | HCC | Glyoxylate and dicarboxylate metabolism | 24/4020 | 30/8465 | 2.66e-04 | 1.24e-03 | 6.88e-04 | 24 |
hsa006702 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
hsa002602 | Liver | HCC | Glycine, serine and threonine metabolism | 28/4020 | 40/8465 | 3.28e-03 | 1.07e-02 | 5.93e-03 | 28 |
hsa0120051 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0063031 | Liver | HCC | Glyoxylate and dicarboxylate metabolism | 24/4020 | 30/8465 | 2.66e-04 | 1.24e-03 | 6.88e-04 | 24 |
hsa0067011 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
hsa002603 | Liver | HCC | Glycine, serine and threonine metabolism | 28/4020 | 40/8465 | 3.28e-03 | 1.07e-02 | 5.93e-03 | 28 |
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 |
AMT | insertion | In_Frame_Ins | novel | c.958_959insAGGTCCAGGGCTACA | p.Arg320delinsGlnValGlnGlyTyrSer | p.R320delinsQVQGYS | P48728 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
AMT | insertion | Frame_Shift_Ins | novel | c.1047_1048insAAGGAAGTAAATTTAAGATGGATATTTAA | p.Gly350LysfsTer17 | p.G350Kfs*17 | P48728 | protein_coding | | | TCGA-A8-A07G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
AMT | insertion | In_Frame_Ins | novel | c.1053_1054insACTTCCGTGTTTAAT | p.Cys351_Pro352insThrSerValPheAsn | p.C351_P352insTSVFN | P48728 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
AMT | SNV | Missense_Mutation | | c.468N>T | p.Met156Ile | p.M156I | P48728 | protein_coding | tolerated(0.76) | benign(0.103) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | rs749087037 | c.59N>T | p.Pro20Leu | p.P20L | P48728 | protein_coding | tolerated(0.4) | benign(0) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | | c.791T>A | p.Leu264Gln | p.L264Q | P48728 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CM-6166-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | rs372496075 | c.583N>A | p.Val195Met | p.V195M | P48728 | protein_coding | tolerated(0.06) | possibly_damaging(0.503) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | novel | c.901N>A | p.Asp301Asn | p.D301N | P48728 | protein_coding | tolerated(0.32) | benign(0.129) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | | c.587C>T | p.Ala196Val | p.A196V | P48728 | protein_coding | tolerated(0.2) | benign(0.041) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | novel | c.505N>T | p.Asp169Tyr | p.D169Y | P48728 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |