GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
GO:00442626 | Esophagus | ESCC | cellular carbohydrate metabolic process | 160/8552 | 283/18723 | 1.43e-04 | 9.66e-04 | 160 |
GO:00160514 | Esophagus | ESCC | carbohydrate biosynthetic process | 117/8552 | 202/18723 | 2.96e-04 | 1.79e-03 | 117 |
GO:00346372 | Esophagus | ESCC | cellular carbohydrate biosynthetic process | 46/8552 | 78/18723 | 1.24e-02 | 4.13e-02 | 46 |
GO:000609118 | Oral cavity | OSCC | generation of precursor metabolites and energy | 286/7305 | 490/18723 | 1.45e-18 | 1.71e-16 | 286 |
GO:001598018 | Oral cavity | OSCC | energy derivation by oxidation of organic compounds | 190/7305 | 318/18723 | 4.10e-14 | 2.26e-12 | 190 |
GO:00160513 | Oral cavity | OSCC | carbohydrate biosynthetic process | 97/7305 | 202/18723 | 5.50e-03 | 2.13e-02 | 97 |
GO:00442625 | Oral cavity | OSCC | cellular carbohydrate metabolic process | 130/7305 | 283/18723 | 9.98e-03 | 3.49e-02 | 130 |
GO:000609119 | Oral cavity | LP | generation of precursor metabolites and energy | 214/4623 | 490/18723 | 1.12e-20 | 2.60e-18 | 214 |
GO:001598019 | Oral cavity | LP | energy derivation by oxidation of organic compounds | 145/4623 | 318/18723 | 2.44e-16 | 3.64e-14 | 145 |
GO:000609125 | Oral cavity | EOLP | generation of precursor metabolites and energy | 79/2218 | 490/18723 | 2.65e-03 | 1.59e-02 | 79 |
GO:001598025 | Oral cavity | EOLP | energy derivation by oxidation of organic compounds | 54/2218 | 318/18723 | 4.02e-03 | 2.23e-02 | 54 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05415211 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa0415210 | Esophagus | ESCC | AMPK signaling pathway | 80/4205 | 121/8465 | 1.73e-04 | 6.67e-04 | 3.42e-04 | 80 |
hsa049109 | Esophagus | ESCC | Insulin signaling pathway | 89/4205 | 137/8465 | 1.97e-04 | 7.32e-04 | 3.75e-04 | 89 |
hsa049318 | Esophagus | ESCC | Insulin resistance | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa041517 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa0492214 | Esophagus | ESCC | Glucagon signaling pathway | 64/4205 | 107/8465 | 2.18e-02 | 4.80e-02 | 2.46e-02 | 64 |
hsa0541538 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa0415213 | Esophagus | ESCC | AMPK signaling pathway | 80/4205 | 121/8465 | 1.73e-04 | 6.67e-04 | 3.42e-04 | 80 |
hsa0491014 | Esophagus | ESCC | Insulin signaling pathway | 89/4205 | 137/8465 | 1.97e-04 | 7.32e-04 | 3.75e-04 | 89 |
hsa0493113 | Esophagus | ESCC | Insulin resistance | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0415114 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa0492215 | Esophagus | ESCC | Glucagon signaling pathway | 64/4205 | 107/8465 | 2.18e-02 | 4.80e-02 | 2.46e-02 | 64 |
hsa0541529 | Oral cavity | OSCC | Diabetic cardiomyopathy | 131/3704 | 203/8465 | 1.33e-09 | 1.49e-08 | 7.57e-09 | 131 |
hsa049108 | Oral cavity | OSCC | Insulin signaling pathway | 83/3704 | 137/8465 | 4.83e-05 | 2.00e-04 | 1.02e-04 | 83 |
hsa041516 | Oral cavity | OSCC | PI3K-Akt signaling pathway | 185/3704 | 354/8465 | 6.26e-04 | 1.86e-03 | 9.49e-04 | 185 |
hsa041529 | Oral cavity | OSCC | AMPK signaling pathway | 71/3704 | 121/8465 | 6.29e-04 | 1.86e-03 | 9.49e-04 | 71 |
hsa049317 | Oral cavity | OSCC | Insulin resistance | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa05415113 | Oral cavity | OSCC | Diabetic cardiomyopathy | 131/3704 | 203/8465 | 1.33e-09 | 1.49e-08 | 7.57e-09 | 131 |
hsa0491013 | Oral cavity | OSCC | Insulin signaling pathway | 83/3704 | 137/8465 | 4.83e-05 | 2.00e-04 | 1.02e-04 | 83 |
hsa0415113 | Oral cavity | OSCC | PI3K-Akt signaling pathway | 185/3704 | 354/8465 | 6.26e-04 | 1.86e-03 | 9.49e-04 | 185 |
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 |
GYS1 | SNV | Missense_Mutation | | c.419G>A | p.Gly140Glu | p.G140E | P13807 | protein_coding | tolerated(0.15) | probably_damaging(0.968) | TCGA-A2-A0CK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | CR |
GYS1 | SNV | Missense_Mutation | | c.1296N>G | p.Ile432Met | p.I432M | P13807 | protein_coding | tolerated(0.11) | possibly_damaging(0.815) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GYS1 | SNV | Missense_Mutation | rs774914573 | c.1385N>A | p.Arg462Gln | p.R462Q | P13807 | protein_coding | deleterious(0.05) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GYS1 | SNV | Missense_Mutation | novel | c.437G>A | p.Arg146His | p.R146H | P13807 | protein_coding | tolerated(0.46) | probably_damaging(0.956) | TCGA-B6-A3ZX-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
GYS1 | SNV | Missense_Mutation | rs560070875 | c.575N>A | p.Arg192His | p.R192H | P13807 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0B9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
GYS1 | SNV | Missense_Mutation | | c.451N>A | p.Ala151Thr | p.A151T | P13807 | protein_coding | tolerated(0.27) | possibly_damaging(0.558) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GYS1 | SNV | Missense_Mutation | | c.2090C>T | p.Ala697Val | p.A697V | P13807 | protein_coding | tolerated_low_confidence(0.38) | benign(0.007) | TCGA-BH-A0HL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
GYS1 | SNV | Missense_Mutation | rs781563966 | c.178N>A | p.Asp60Asn | p.D60N | P13807 | protein_coding | deleterious(0.05) | possibly_damaging(0.815) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
GYS1 | insertion | Nonsense_Mutation | novel | c.588_589insGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGC | p.Pro197GlyfsTer15 | p.P197Gfs*15 | P13807 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
GYS1 | insertion | Frame_Shift_Ins | novel | c.942-1_942insCCAGGCATGGTGGCTCACACGTGTAGTCCCA | p.His315GlnfsTer29 | p.H315Qfs*29 | P13807 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |