GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00070332 | Liver | Cirrhotic | vacuole organization | 80/4634 | 180/18723 | 5.73e-09 | 2.25e-07 | 80 |
GO:20001167 | Liver | Cirrhotic | regulation of cysteine-type endopeptidase activity | 97/4634 | 235/18723 | 1.61e-08 | 5.99e-07 | 97 |
GO:015011512 | Liver | Cirrhotic | cell-substrate junction organization | 51/4634 | 101/18723 | 2.08e-08 | 7.47e-07 | 51 |
GO:005508811 | Liver | Cirrhotic | lipid homeostasis | 74/4634 | 167/18723 | 2.46e-08 | 8.51e-07 | 74 |
GO:003450411 | Liver | Cirrhotic | protein localization to nucleus | 113/4634 | 290/18723 | 5.00e-08 | 1.58e-06 | 113 |
GO:19016051 | Liver | Cirrhotic | alpha-amino acid metabolic process | 82/4634 | 195/18723 | 7.72e-08 | 2.30e-06 | 82 |
GO:007266511 | Liver | Cirrhotic | protein localization to vacuole | 37/4634 | 67/18723 | 9.11e-08 | 2.66e-06 | 37 |
GO:001619711 | Liver | Cirrhotic | endosomal transport | 93/4634 | 230/18723 | 1.01e-07 | 2.93e-06 | 93 |
GO:005134612 | Liver | Cirrhotic | negative regulation of hydrolase activity | 139/4634 | 379/18723 | 1.24e-07 | 3.42e-06 | 139 |
GO:005109912 | Liver | Cirrhotic | positive regulation of binding | 74/4634 | 173/18723 | 1.44e-07 | 3.87e-06 | 74 |
GO:19001826 | Liver | Cirrhotic | positive regulation of protein localization to nucleus | 44/4634 | 87/18723 | 1.80e-07 | 4.71e-06 | 44 |
GO:015011612 | Liver | Cirrhotic | regulation of cell-substrate junction organization | 38/4634 | 71/18723 | 1.84e-07 | 4.82e-06 | 38 |
GO:00072494 | Liver | Cirrhotic | I-kappaB kinase/NF-kappaB signaling | 108/4634 | 281/18723 | 2.21e-07 | 5.64e-06 | 108 |
GO:19001807 | Liver | Cirrhotic | regulation of protein localization to nucleus | 61/4634 | 136/18723 | 2.39e-07 | 6.06e-06 | 61 |
GO:00431546 | Liver | Cirrhotic | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 40/4634 | 78/18723 | 4.00e-07 | 9.39e-06 | 40 |
GO:001095111 | Liver | Cirrhotic | negative regulation of endopeptidase activity | 98/4634 | 252/18723 | 4.19e-07 | 9.77e-06 | 98 |
GO:00070325 | Liver | Cirrhotic | endosome organization | 41/4634 | 82/18723 | 6.91e-07 | 1.47e-05 | 41 |
GO:004263211 | Liver | Cirrhotic | cholesterol homeostasis | 46/4634 | 96/18723 | 7.15e-07 | 1.52e-05 | 46 |
GO:001046612 | Liver | Cirrhotic | negative regulation of peptidase activity | 100/4634 | 262/18723 | 8.90e-07 | 1.84e-05 | 100 |
GO:005509211 | Liver | Cirrhotic | sterol homeostasis | 46/4634 | 97/18723 | 1.04e-06 | 2.13e-05 | 46 |
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 |