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:0002181 | Colorectum | AD | cytoplasmic translation | 109/3918 | 148/18723 | 3.40e-43 | 2.13e-39 | 109 |
GO:0070997 | Colorectum | AD | neuron death | 114/3918 | 361/18723 | 1.13e-06 | 3.72e-05 | 114 |
GO:0006417 | Colorectum | AD | regulation of translation | 141/3918 | 468/18723 | 1.32e-06 | 4.22e-05 | 141 |
GO:1901214 | Colorectum | AD | regulation of neuron death | 99/3918 | 319/18723 | 1.26e-05 | 2.76e-04 | 99 |
GO:0051402 | Colorectum | AD | neuron apoptotic process | 77/3918 | 246/18723 | 8.07e-05 | 1.28e-03 | 77 |
GO:1901215 | Colorectum | AD | negative regulation of neuron death | 67/3918 | 208/18723 | 8.81e-05 | 1.35e-03 | 67 |
GO:0006418 | Colorectum | AD | tRNA aminoacylation for protein translation | 19/3918 | 41/18723 | 2.37e-04 | 3.03e-03 | 19 |
GO:0043039 | Colorectum | AD | tRNA aminoacylation | 19/3918 | 44/18723 | 7.13e-04 | 7.21e-03 | 19 |
GO:0043523 | Colorectum | AD | regulation of neuron apoptotic process | 64/3918 | 212/18723 | 8.95e-04 | 8.63e-03 | 64 |
GO:0043038 | Colorectum | AD | amino acid activation | 19/3918 | 45/18723 | 9.94e-04 | 9.28e-03 | 19 |
GO:0006520 | Colorectum | AD | cellular amino acid metabolic process | 81/3918 | 284/18723 | 1.37e-03 | 1.19e-02 | 81 |
GO:0006414 | Colorectum | AD | translational elongation | 21/3918 | 55/18723 | 2.53e-03 | 1.93e-02 | 21 |
GO:0043524 | Colorectum | AD | negative regulation of neuron apoptotic process | 43/3918 | 145/18723 | 8.04e-03 | 4.73e-02 | 43 |
GO:00021811 | Colorectum | SER | cytoplasmic translation | 102/2897 | 148/18723 | 1.38e-48 | 8.49e-45 | 102 |
GO:00064181 | Colorectum | SER | tRNA aminoacylation for protein translation | 17/2897 | 41/18723 | 5.75e-05 | 1.35e-03 | 17 |
GO:00709971 | Colorectum | SER | neuron death | 84/2897 | 361/18723 | 5.76e-05 | 1.35e-03 | 84 |
GO:00430391 | Colorectum | SER | tRNA aminoacylation | 17/2897 | 44/18723 | 1.64e-04 | 3.12e-03 | 17 |
GO:00514021 | Colorectum | SER | neuron apoptotic process | 60/2897 | 246/18723 | 1.65e-04 | 3.13e-03 | 60 |
GO:00430381 | Colorectum | SER | amino acid activation | 17/2897 | 45/18723 | 2.25e-04 | 3.91e-03 | 17 |
GO:00064171 | Colorectum | SER | regulation of translation | 100/2897 | 468/18723 | 3.76e-04 | 5.74e-03 | 100 |
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 |
AARS | SNV | Missense_Mutation | novel | c.2569N>A | p.Leu857Ile | p.L857I | P49588 | protein_coding | tolerated(0.26) | benign(0.003) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
AARS | SNV | Missense_Mutation | | c.1823N>T | p.Thr608Met | p.T608M | P49588 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AO-A03R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
AARS | SNV | Missense_Mutation | | c.1934N>G | p.Ser645Cys | p.S645C | P49588 | protein_coding | deleterious(0.02) | possibly_damaging(0.765) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
AARS | SNV | Missense_Mutation | | c.1546N>T | p.Val516Leu | p.V516L | P49588 | protein_coding | tolerated(0.2) | possibly_damaging(0.5) | TCGA-AR-A0TS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
AARS | SNV | Missense_Mutation | | c.1327N>A | p.Glu443Lys | p.E443K | P49588 | protein_coding | tolerated(0.62) | benign(0.013) | TCGA-BH-A0DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AARS | SNV | Missense_Mutation | | c.1367N>C | p.Gly456Ala | p.G456A | P49588 | protein_coding | tolerated(0.39) | benign(0.007) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AARS | SNV | Missense_Mutation | | c.445N>C | p.Asp149His | p.D149H | P49588 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
AARS | SNV | Missense_Mutation | novel | c.1678G>C | p.Glu560Gln | p.E560Q | P49588 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-D8-A4Z1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
AARS | SNV | Missense_Mutation | novel | c.634N>G | p.Leu212Val | p.L212V | P49588 | protein_coding | tolerated(0.16) | possibly_damaging(0.85) | TCGA-E2-A14N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
AARS | SNV | Missense_Mutation | novel | c.1459N>C | p.Tyr487His | p.Y487H | P49588 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-LL-A5YN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |