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 |
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:000167817 | Oral cavity | EOLP | cellular glucose homeostasis | 36/2218 | 172/18723 | 4.51e-04 | 3.98e-03 | 36 |
GO:0034284110 | Oral cavity | EOLP | response to monosaccharide | 44/2218 | 225/18723 | 5.38e-04 | 4.63e-03 | 44 |
GO:0009746110 | Oral cavity | EOLP | response to hexose | 43/2218 | 219/18723 | 5.67e-04 | 4.81e-03 | 43 |
GO:003577412 | Oral cavity | EOLP | positive regulation of insulin secretion involved in cellular response to glucose stimulus | 12/2218 | 36/18723 | 6.02e-04 | 5.04e-03 | 12 |
GO:007133317 | Oral cavity | EOLP | cellular response to glucose stimulus | 31/2218 | 151/18723 | 1.50e-03 | 1.01e-02 | 31 |
GO:00320247 | Oral cavity | EOLP | positive regulation of insulin secretion | 19/2218 | 78/18723 | 1.56e-03 | 1.05e-02 | 19 |
GO:007133117 | Oral cavity | EOLP | cellular response to hexose stimulus | 31/2218 | 153/18723 | 1.87e-03 | 1.21e-02 | 31 |
GO:000974918 | Oral cavity | EOLP | response to glucose | 40/2218 | 212/18723 | 1.89e-03 | 1.21e-02 | 40 |
GO:007132617 | Oral cavity | EOLP | cellular response to monosaccharide stimulus | 31/2218 | 154/18723 | 2.08e-03 | 1.32e-02 | 31 |
GO:005071415 | Oral cavity | EOLP | positive regulation of protein secretion | 28/2218 | 137/18723 | 2.65e-03 | 1.59e-02 | 28 |
GO:000609125 | Oral cavity | EOLP | generation of precursor metabolites and energy | 79/2218 | 490/18723 | 2.65e-03 | 1.59e-02 | 79 |
GO:007132218 | Oral cavity | EOLP | cellular response to carbohydrate stimulus | 32/2218 | 163/18723 | 2.70e-03 | 1.62e-02 | 32 |
GO:004259317 | Oral cavity | EOLP | glucose homeostasis | 46/2218 | 258/18723 | 2.96e-03 | 1.74e-02 | 46 |
GO:003350017 | Oral cavity | EOLP | carbohydrate homeostasis | 46/2218 | 259/18723 | 3.20e-03 | 1.86e-02 | 46 |
GO:000930616 | Oral cavity | EOLP | protein secretion | 59/2218 | 359/18723 | 5.67e-03 | 2.92e-02 | 59 |
GO:003559216 | Oral cavity | EOLP | establishment of protein localization to extracellular region | 59/2218 | 360/18723 | 6.02e-03 | 3.01e-02 | 59 |
GO:007169215 | Oral cavity | EOLP | protein localization to extracellular region | 60/2218 | 368/18723 | 6.31e-03 | 3.13e-02 | 60 |
GO:006117813 | Oral cavity | EOLP | regulation of insulin secretion involved in cellular response to glucose stimulus | 15/2218 | 64/18723 | 6.83e-03 | 3.32e-02 | 15 |
GO:003577312 | Oral cavity | EOLP | insulin secretion involved in cellular response to glucose stimulus | 16/2218 | 73/18723 | 1.04e-02 | 4.65e-02 | 16 |
GO:190495126 | Skin | AK | positive regulation of establishment of protein localization | 60/1910 | 319/18723 | 2.14e-06 | 6.12e-05 | 60 |
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 |
OXCT1 | SNV | Missense_Mutation | | c.1497N>T | p.Gln499His | p.Q499H | P55809 | protein_coding | deleterious(0.03) | benign(0.001) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OXCT1 | SNV | Missense_Mutation | | c.1064N>A | p.Arg355Gln | p.R355Q | P55809 | protein_coding | tolerated(0.51) | benign(0.03) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OXCT1 | SNV | Missense_Mutation | novel | c.1033N>C | p.Asn345His | p.N345H | P55809 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OXCT1 | SNV | Missense_Mutation | | c.1551N>C | p.Gln517His | p.Q517H | P55809 | protein_coding | deleterious(0.03) | possibly_damaging(0.775) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
OXCT1 | SNV | Missense_Mutation | novel | c.1560T>G | p.Asn520Lys | p.N520K | P55809 | protein_coding | tolerated_low_confidence(0.06) | benign(0.006) | TCGA-OL-A5RY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
OXCT1 | deletion | Frame_Shift_Del | novel | c.1139delN | p.Phe380SerfsTer9 | p.F380Sfs*9 | P55809 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
OXCT1 | SNV | Missense_Mutation | novel | c.1490A>G | p.Asp497Gly | p.D497G | P55809 | protein_coding | deleterious(0) | possibly_damaging(0.866) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
OXCT1 | SNV | Missense_Mutation | novel | c.94T>C | p.Phe32Leu | p.F32L | P55809 | protein_coding | tolerated(0.13) | benign(0.012) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
OXCT1 | SNV | Missense_Mutation | rs766119402 | c.854N>A | p.Arg285Gln | p.R285Q | P55809 | protein_coding | tolerated(0.21) | benign(0.003) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
OXCT1 | SNV | Missense_Mutation | | c.1254G>C | p.Lys418Asn | p.K418N | P55809 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-AA-3955-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | capecitabine | CR |