Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001939512 | Liver | Cirrhotic | fatty acid oxidation | 53/4634 | 103/18723 | 4.73e-09 | 1.88e-07 | 53 |
GO:00066941 | Liver | Cirrhotic | steroid biosynthetic process | 77/4634 | 173/18723 | 1.02e-08 | 3.91e-07 | 77 |
GO:0016126 | Liver | Cirrhotic | sterol biosynthetic process | 37/4634 | 64/18723 | 1.74e-08 | 6.32e-07 | 37 |
GO:007149612 | Liver | Cirrhotic | cellular response to external stimulus | 123/4634 | 320/18723 | 3.27e-08 | 1.10e-06 | 123 |
GO:003444011 | Liver | Cirrhotic | lipid oxidation | 53/4634 | 108/18723 | 3.85e-08 | 1.27e-06 | 53 |
GO:000616312 | Liver | Cirrhotic | purine nucleotide metabolic process | 146/4634 | 396/18723 | 4.12e-08 | 1.34e-06 | 146 |
GO:000918512 | Liver | Cirrhotic | ribonucleoside diphosphate metabolic process | 52/4634 | 106/18723 | 5.24e-08 | 1.63e-06 | 52 |
GO:000913212 | Liver | Cirrhotic | nucleoside diphosphate metabolic process | 58/4634 | 124/18723 | 7.88e-08 | 2.33e-06 | 58 |
GO:000913512 | Liver | Cirrhotic | purine nucleoside diphosphate metabolic process | 50/4634 | 103/18723 | 1.43e-07 | 3.87e-06 | 50 |
GO:000917912 | Liver | Cirrhotic | purine ribonucleoside diphosphate metabolic process | 50/4634 | 103/18723 | 1.43e-07 | 3.87e-06 | 50 |
GO:004693912 | Liver | Cirrhotic | nucleotide phosphorylation | 49/4634 | 101/18723 | 1.95e-07 | 5.07e-06 | 49 |
GO:004603112 | Liver | Cirrhotic | ADP metabolic process | 45/4634 | 90/18723 | 2.01e-07 | 5.21e-06 | 45 |
GO:000663311 | Liver | Cirrhotic | fatty acid biosynthetic process | 70/4634 | 163/18723 | 2.57e-07 | 6.41e-06 | 70 |
GO:006201212 | Liver | Cirrhotic | regulation of small molecule metabolic process | 124/4634 | 334/18723 | 2.74e-07 | 6.79e-06 | 124 |
GO:000609012 | Liver | Cirrhotic | pyruvate metabolic process | 50/4634 | 106/18723 | 4.39e-07 | 1.02e-05 | 50 |
GO:00316686 | Liver | Cirrhotic | cellular response to extracellular stimulus | 96/4634 | 246/18723 | 4.55e-07 | 1.05e-05 | 96 |
GO:00092675 | Liver | Cirrhotic | cellular response to starvation | 67/4634 | 156/18723 | 4.58e-07 | 1.05e-05 | 67 |
GO:004346712 | Liver | Cirrhotic | regulation of generation of precursor metabolites and energy | 58/4634 | 130/18723 | 5.81e-07 | 1.28e-05 | 58 |
GO:001605212 | Liver | Cirrhotic | carbohydrate catabolic process | 66/4634 | 154/18723 | 6.10e-07 | 1.32e-05 | 66 |
GO:000616512 | Liver | Cirrhotic | nucleoside diphosphate phosphorylation | 47/4634 | 99/18723 | 7.63e-07 | 1.61e-05 | 47 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04714 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa04932 | Colorectum | AD | Non-alcoholic fatty liver disease | 90/2092 | 155/8465 | 4.83e-19 | 1.80e-17 | 1.15e-17 | 90 |
hsa04530 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
hsa04152 | Colorectum | AD | AMPK signaling pathway | 47/2092 | 121/8465 | 3.74e-04 | 2.82e-03 | 1.80e-03 | 47 |
hsa04213 | Colorectum | AD | Longevity regulating pathway - multiple species | 27/2092 | 62/8465 | 8.72e-04 | 5.96e-03 | 3.80e-03 | 27 |
hsa04922 | Colorectum | AD | Glucagon signaling pathway | 41/2092 | 107/8465 | 1.18e-03 | 7.75e-03 | 4.94e-03 | 41 |
hsa04211 | Colorectum | AD | Longevity regulating pathway | 33/2092 | 89/8465 | 6.15e-03 | 2.68e-02 | 1.71e-02 | 33 |
hsa047141 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa049321 | Colorectum | AD | Non-alcoholic fatty liver disease | 90/2092 | 155/8465 | 4.83e-19 | 1.80e-17 | 1.15e-17 | 90 |
hsa045301 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
hsa041521 | Colorectum | AD | AMPK signaling pathway | 47/2092 | 121/8465 | 3.74e-04 | 2.82e-03 | 1.80e-03 | 47 |
hsa042131 | Colorectum | AD | Longevity regulating pathway - multiple species | 27/2092 | 62/8465 | 8.72e-04 | 5.96e-03 | 3.80e-03 | 27 |
hsa049221 | Colorectum | AD | Glucagon signaling pathway | 41/2092 | 107/8465 | 1.18e-03 | 7.75e-03 | 4.94e-03 | 41 |
hsa042111 | Colorectum | AD | Longevity regulating pathway | 33/2092 | 89/8465 | 6.15e-03 | 2.68e-02 | 1.71e-02 | 33 |
hsa047142 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
hsa049322 | Colorectum | SER | Non-alcoholic fatty liver disease | 75/1580 | 155/8465 | 2.16e-17 | 5.99e-16 | 4.35e-16 | 75 |
hsa045302 | Colorectum | SER | Tight junction | 59/1580 | 169/8465 | 3.24e-07 | 5.98e-06 | 4.34e-06 | 59 |
hsa049222 | Colorectum | SER | Glucagon signaling pathway | 38/1580 | 107/8465 | 2.57e-05 | 3.28e-04 | 2.38e-04 | 38 |
hsa042132 | Colorectum | SER | Longevity regulating pathway - multiple species | 20/1580 | 62/8465 | 7.15e-03 | 3.77e-02 | 2.74e-02 | 20 |
hsa047143 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
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 |
PRKAG2 | SNV | Missense_Mutation | novel | c.1024N>A | p.Glu342Lys | p.E342K | Q9UGJ0 | protein_coding | deleterious(0.01) | probably_damaging(0.944) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
PRKAG2 | SNV | Missense_Mutation | | c.64G>A | p.Gly22Ser | p.G22S | Q9UGJ0 | protein_coding | tolerated_low_confidence(0.89) | benign(0.01) | TCGA-BH-A0W4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PRKAG2 | SNV | Missense_Mutation | novel | c.257C>A | p.Ser86Tyr | p.S86Y | Q9UGJ0 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.735) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PRKAG2 | insertion | Frame_Shift_Ins | novel | c.1024_1025insTA | p.Glu342ValfsTer21 | p.E342Vfs*21 | Q9UGJ0 | protein_coding | | | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
PRKAG2 | insertion | Frame_Shift_Ins | novel | c.1023_1024insCCCACAAAAGAATCCTCAAGTTCCTCCAGCTTTTT | p.Glu342ProfsTer32 | p.E342Pfs*32 | Q9UGJ0 | protein_coding | | | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
PRKAG2 | SNV | Missense_Mutation | | c.1240G>C | p.Asp414His | p.D414H | Q9UGJ0 | protein_coding | deleterious(0.03) | benign(0.007) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
PRKAG2 | SNV | Missense_Mutation | | c.769N>C | p.Glu257Gln | p.E257Q | Q9UGJ0 | protein_coding | tolerated(0.07) | benign(0.109) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PRKAG2 | SNV | Missense_Mutation | | c.223N>A | p.Gly75Arg | p.G75R | Q9UGJ0 | protein_coding | deleterious_low_confidence(0) | benign(0.352) | TCGA-R2-A69V-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
PRKAG2 | SNV | Missense_Mutation | rs730880970 | c.202G>A | p.Gly68Ser | p.G68S | Q9UGJ0 | protein_coding | tolerated_low_confidence(0.51) | benign(0) | TCGA-AU-6004-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PRKAG2 | SNV | Missense_Mutation | rs397517269 | c.313N>A | p.Val105Met | p.V105M | Q9UGJ0 | protein_coding | deleterious_low_confidence(0.04) | benign(0.031) | TCGA-CM-5862-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |