GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00060917 | Liver | NAFLD | generation of precursor metabolites and energy | 84/1882 | 490/18723 | 7.03e-07 | 3.95e-05 | 84 |
GO:00442623 | Liver | NAFLD | cellular carbohydrate metabolic process | 55/1882 | 283/18723 | 1.27e-06 | 6.01e-05 | 55 |
GO:0016051 | Liver | NAFLD | carbohydrate biosynthetic process | 43/1882 | 202/18723 | 1.55e-06 | 6.96e-05 | 43 |
GO:0034637 | Liver | NAFLD | cellular carbohydrate biosynthetic process | 20/1882 | 78/18723 | 6.46e-05 | 1.39e-03 | 20 |
GO:00097437 | Liver | NAFLD | response to carbohydrate | 45/1882 | 253/18723 | 1.07e-04 | 2.11e-03 | 45 |
GO:0005976 | Liver | NAFLD | polysaccharide metabolic process | 24/1882 | 107/18723 | 1.28e-04 | 2.46e-03 | 24 |
GO:0044264 | Liver | NAFLD | cellular polysaccharide metabolic process | 22/1882 | 96/18723 | 1.73e-04 | 3.08e-03 | 22 |
GO:0005977 | Liver | NAFLD | glycogen metabolic process | 18/1882 | 72/18723 | 2.09e-04 | 3.60e-03 | 18 |
GO:0006073 | Liver | NAFLD | cellular glucan metabolic process | 18/1882 | 73/18723 | 2.51e-04 | 4.12e-03 | 18 |
GO:0044042 | Liver | NAFLD | glucan metabolic process | 18/1882 | 73/18723 | 2.51e-04 | 4.12e-03 | 18 |
GO:0000271 | Liver | NAFLD | polysaccharide biosynthetic process | 17/1882 | 72/18723 | 6.35e-04 | 8.27e-03 | 17 |
GO:0006112 | Liver | NAFLD | energy reserve metabolic process | 18/1882 | 84/18723 | 1.49e-03 | 1.64e-02 | 18 |
GO:0033692 | Liver | NAFLD | cellular polysaccharide biosynthetic process | 15/1882 | 65/18723 | 1.66e-03 | 1.74e-02 | 15 |
GO:00342847 | Liver | NAFLD | response to monosaccharide | 37/1882 | 225/18723 | 1.86e-03 | 1.91e-02 | 37 |
GO:00097467 | Liver | NAFLD | response to hexose | 36/1882 | 219/18723 | 2.14e-03 | 2.08e-02 | 36 |
GO:00159807 | Liver | NAFLD | energy derivation by oxidation of organic compounds | 48/1882 | 318/18723 | 2.78e-03 | 2.54e-02 | 48 |
GO:0005978 | Liver | NAFLD | glycogen biosynthetic process | 11/1882 | 44/18723 | 3.45e-03 | 2.98e-02 | 11 |
GO:0009250 | Liver | NAFLD | glucan biosynthetic process | 11/1882 | 44/18723 | 3.45e-03 | 2.98e-02 | 11 |
GO:000609112 | Liver | Cirrhotic | generation of precursor metabolites and energy | 238/4634 | 490/18723 | 6.85e-31 | 1.07e-27 | 238 |
GO:001598012 | Liver | Cirrhotic | energy derivation by oxidation of organic compounds | 154/4634 | 318/18723 | 3.11e-20 | 8.87e-18 | 154 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa049316 | Liver | NAFLD | Insulin resistance | 29/1043 | 108/8465 | 3.01e-05 | 7.59e-04 | 6.11e-04 | 29 |
hsa041528 | Liver | NAFLD | AMPK signaling pathway | 28/1043 | 121/8465 | 6.26e-04 | 9.78e-03 | 7.88e-03 | 28 |
hsa049106 | Liver | NAFLD | Insulin signaling pathway | 29/1043 | 137/8465 | 2.23e-03 | 2.46e-02 | 1.99e-02 | 29 |
hsa0492210 | Liver | NAFLD | Glucagon signaling pathway | 24/1043 | 107/8465 | 2.33e-03 | 2.46e-02 | 1.99e-02 | 24 |
hsa0493111 | Liver | NAFLD | Insulin resistance | 29/1043 | 108/8465 | 3.01e-05 | 7.59e-04 | 6.11e-04 | 29 |
hsa0415211 | Liver | NAFLD | AMPK signaling pathway | 28/1043 | 121/8465 | 6.26e-04 | 9.78e-03 | 7.88e-03 | 28 |
hsa0491011 | Liver | NAFLD | Insulin signaling pathway | 29/1043 | 137/8465 | 2.23e-03 | 2.46e-02 | 1.99e-02 | 29 |
hsa0492211 | Liver | NAFLD | Glucagon signaling pathway | 24/1043 | 107/8465 | 2.33e-03 | 2.46e-02 | 1.99e-02 | 24 |
hsa0541514 | Liver | Cirrhotic | Diabetic cardiomyopathy | 108/2530 | 203/8465 | 1.99e-12 | 4.41e-11 | 2.72e-11 | 108 |
hsa0491021 | Liver | Cirrhotic | Insulin signaling pathway | 56/2530 | 137/8465 | 3.74e-03 | 1.50e-02 | 9.26e-03 | 56 |
hsa0415221 | Liver | Cirrhotic | AMPK signaling pathway | 49/2530 | 121/8465 | 7.90e-03 | 2.74e-02 | 1.69e-02 | 49 |
hsa0492221 | Liver | Cirrhotic | Glucagon signaling pathway | 43/2530 | 107/8465 | 1.42e-02 | 4.35e-02 | 2.68e-02 | 43 |
hsa0541515 | Liver | Cirrhotic | Diabetic cardiomyopathy | 108/2530 | 203/8465 | 1.99e-12 | 4.41e-11 | 2.72e-11 | 108 |
hsa0491031 | Liver | Cirrhotic | Insulin signaling pathway | 56/2530 | 137/8465 | 3.74e-03 | 1.50e-02 | 9.26e-03 | 56 |
hsa0415231 | Liver | Cirrhotic | AMPK signaling pathway | 49/2530 | 121/8465 | 7.90e-03 | 2.74e-02 | 1.69e-02 | 49 |
hsa0492231 | Liver | Cirrhotic | Glucagon signaling pathway | 43/2530 | 107/8465 | 1.42e-02 | 4.35e-02 | 2.68e-02 | 43 |
hsa0541522 | Liver | HCC | Diabetic cardiomyopathy | 151/4020 | 203/8465 | 2.72e-15 | 1.01e-13 | 5.63e-14 | 151 |
hsa0491041 | Liver | HCC | Insulin signaling pathway | 95/4020 | 137/8465 | 1.53e-07 | 1.97e-06 | 1.10e-06 | 95 |
hsa0493121 | Liver | HCC | Insulin resistance | 77/4020 | 108/8465 | 3.89e-07 | 4.46e-06 | 2.48e-06 | 77 |
hsa0415241 | Liver | HCC | AMPK signaling pathway | 77/4020 | 121/8465 | 2.32e-04 | 1.11e-03 | 6.18e-04 | 77 |
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 |
GYS2 | SNV | Missense_Mutation | | c.1574N>A | p.Pro525His | p.P525H | P54840 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-78-7536-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
GYS2 | SNV | Missense_Mutation | novel | c.2017G>A | p.Glu673Lys | p.E673K | P54840 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.971) | TCGA-95-7043-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
GYS2 | SNV | Missense_Mutation | rs753854327 | c.1474G>C | p.Asp492His | p.D492H | P54840 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-21-5787-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
GYS2 | SNV | Missense_Mutation | novel | c.2078N>T | p.Gly693Val | p.G693V | P54840 | protein_coding | deleterious_low_confidence(0.01) | benign(0.127) | TCGA-37-3792-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
GYS2 | SNV | Missense_Mutation | novel | c.461N>C | p.Ile154Thr | p.I154T | P54840 | protein_coding | tolerated(0.06) | possibly_damaging(0.761) | TCGA-37-3792-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
GYS2 | SNV | Missense_Mutation | novel | c.2108N>G | p.Asn703Ser | p.N703S | P54840 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.935) | TCGA-52-7810-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GYS2 | SNV | Missense_Mutation | novel | c.1591C>T | p.Leu531Phe | p.L531F | P54840 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-58-8392-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
GYS2 | SNV | Missense_Mutation | | c.2000N>A | p.Arg667Lys | p.R667K | P54840 | protein_coding | tolerated(0.49) | benign(0.079) | TCGA-60-2722-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | taxol | PD |
GYS2 | SNV | Missense_Mutation | novel | c.119A>G | p.Lys40Arg | p.K40R | P54840 | protein_coding | tolerated(0.23) | probably_damaging(0.927) | TCGA-77-A5G7-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GYS2 | SNV | Missense_Mutation | novel | c.802N>A | p.His268Asn | p.H268N | P54840 | protein_coding | deleterious(0.02) | benign(0.02) | TCGA-85-8288-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |