Tissue | Expression Dynamics | Abbreviation |
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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
GO:001598022 | Liver | HCC | energy derivation by oxidation of organic compounds | 221/7958 | 318/18723 | 1.02e-22 | 1.86e-20 | 221 |
GO:004426221 | Liver | HCC | cellular carbohydrate metabolic process | 153/7958 | 283/18723 | 5.27e-05 | 5.00e-04 | 153 |
GO:00160512 | Liver | HCC | carbohydrate biosynthetic process | 113/7958 | 202/18723 | 7.64e-05 | 6.83e-04 | 113 |
GO:00059772 | Liver | HCC | glycogen metabolic process | 46/7958 | 72/18723 | 2.02e-04 | 1.56e-03 | 46 |
GO:00060732 | Liver | HCC | cellular glucan metabolic process | 46/7958 | 73/18723 | 3.23e-04 | 2.28e-03 | 46 |
GO:00440422 | Liver | HCC | glucan metabolic process | 46/7958 | 73/18723 | 3.23e-04 | 2.28e-03 | 46 |
GO:00059781 | Liver | HCC | glycogen biosynthetic process | 29/7958 | 44/18723 | 1.46e-03 | 7.75e-03 | 29 |
GO:00092501 | Liver | HCC | glucan biosynthetic process | 29/7958 | 44/18723 | 1.46e-03 | 7.75e-03 | 29 |
GO:00061122 | Liver | HCC | energy reserve metabolic process | 49/7958 | 84/18723 | 2.46e-03 | 1.19e-02 | 49 |
GO:00346371 | Liver | HCC | cellular carbohydrate biosynthetic process | 44/7958 | 78/18723 | 9.13e-03 | 3.51e-02 | 44 |
GO:00442641 | Liver | HCC | cellular polysaccharide metabolic process | 52/7958 | 96/18723 | 1.38e-02 | 4.91e-02 | 52 |
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 |
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 |
GYG1 | SNV | Missense_Mutation | | c.539G>T | p.Arg180Ile | p.R180I | P46976 | protein_coding | deleterious(0.05) | benign(0.206) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
GYG1 | SNV | Missense_Mutation | rs781042039 | c.875G>C | p.Arg292Thr | p.R292T | P46976 | protein_coding | tolerated(0.5) | benign(0.236) | TCGA-BH-A0BP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GYG1 | SNV | Missense_Mutation | novel | c.698N>A | p.Ser233Asn | p.S233N | P46976 | protein_coding | tolerated(0.29) | benign(0) | TCGA-LL-A6FQ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
GYG1 | insertion | In_Frame_Ins | novel | c.736_737insAGCAGGGTTTGGAGCTAGGCTACAGGTTTGGTCCAGATCTGT | p.Leu246delinsGlnGlnGlyLeuGluLeuGlyTyrArgPheGlyProAspLeuPhe | p.L246delinsQQGLELGYRFGPDLF | P46976 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GYG1 | insertion | Nonsense_Mutation | novel | c.579_580insTTATTTCTTTTGAATGAATGGCCATGATCCCCGCTTTCTGAGGAAG | p.Ile194LeufsTer9 | p.I194Lfs*9 | P46976 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GYG1 | SNV | Missense_Mutation | | c.71N>T | p.Ser24Leu | p.S24L | P46976 | protein_coding | tolerated(0.11) | benign(0.018) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
GYG1 | SNV | Missense_Mutation | | c.334G>A | p.Asp112Asn | p.D112N | P46976 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GYG1 | SNV | Missense_Mutation | novel | c.163N>C | p.Phe55Leu | p.F55L | P46976 | protein_coding | deleterious(0) | probably_damaging(0.951) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GYG1 | SNV | Missense_Mutation | novel | c.736N>A | p.Leu246Ile | p.L246I | P46976 | protein_coding | tolerated(0.06) | possibly_damaging(0.818) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GYG1 | SNV | Missense_Mutation | novel | c.953N>T | p.Ser318Leu | p.S318L | P46976 | protein_coding | deleterious(0.03) | possibly_damaging(0.594) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |