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 |
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:00165717 | Oral cavity | OSCC | histone methylation | 72/7305 | 141/18723 | 2.36e-03 | 1.04e-02 | 72 |
GO:00322591 | Oral cavity | OSCC | methylation | 168/7305 | 364/18723 | 3.03e-03 | 1.31e-02 | 168 |
GO:00092992 | Oral cavity | OSCC | mRNA transcription | 12/7305 | 16/18723 | 3.83e-03 | 1.57e-02 | 12 |
GO:00426927 | Oral cavity | OSCC | muscle cell differentiation | 175/7305 | 384/18723 | 4.79e-03 | 1.92e-02 | 175 |
GO:00310603 | Oral cavity | OSCC | regulation of histone methylation | 38/7305 | 69/18723 | 4.90e-03 | 1.94e-02 | 38 |
GO:00329684 | Oral cavity | OSCC | positive regulation of transcription elongation from RNA polymerase II promoter | 10/7305 | 13/18723 | 6.32e-03 | 2.35e-02 | 10 |
GO:00322393 | Oral cavity | OSCC | regulation of nucleobase-containing compound transport | 11/7305 | 15/18723 | 7.49e-03 | 2.75e-02 | 11 |
GO:00349687 | Oral cavity | OSCC | histone lysine methylation | 58/7305 | 115/18723 | 8.25e-03 | 3.01e-02 | 58 |
GO:00327865 | Oral cavity | OSCC | positive regulation of DNA-templated transcription, elongation | 17/7305 | 27/18723 | 1.01e-02 | 3.49e-02 | 17 |
GO:00023814 | Oral cavity | OSCC | immunoglobulin production involved in immunoglobulin-mediated immune response | 37/7305 | 70/18723 | 1.28e-02 | 4.28e-02 | 37 |
GO:0016447 | Oral cavity | OSCC | somatic recombination of immunoglobulin gene segments | 31/7305 | 57/18723 | 1.32e-02 | 4.38e-02 | 31 |
GO:00022002 | Oral cavity | OSCC | somatic diversification of immune receptors | 40/7305 | 77/18723 | 1.42e-02 | 4.69e-02 | 40 |
GO:0002562 | Oral cavity | OSCC | somatic diversification of immune receptors via germline recombination within a single locus | 35/7305 | 66/18723 | 1.43e-02 | 4.69e-02 | 35 |
GO:0016444 | Oral cavity | OSCC | somatic cell DNA recombination | 35/7305 | 66/18723 | 1.43e-02 | 4.69e-02 | 35 |
GO:0008380110 | Oral cavity | LP | RNA splicing | 237/4623 | 434/18723 | 1.82e-41 | 3.79e-38 | 237 |
GO:000640319 | Oral cavity | LP | RNA localization | 105/4623 | 201/18723 | 3.34e-17 | 5.36e-15 | 105 |
GO:005068418 | Oral cavity | LP | regulation of mRNA processing | 76/4623 | 137/18723 | 1.14e-14 | 1.35e-12 | 76 |
GO:190331119 | Oral cavity | LP | regulation of mRNA metabolic process | 129/4623 | 288/18723 | 5.70e-14 | 6.10e-12 | 129 |
GO:003238616 | Oral cavity | LP | regulation of intracellular transport | 145/4623 | 337/18723 | 8.58e-14 | 8.27e-12 | 145 |
GO:000691318 | Oral cavity | LP | nucleocytoplasmic transport | 130/4623 | 301/18723 | 1.19e-12 | 9.77e-11 | 130 |
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 |
SUPT6H | SNV | Missense_Mutation | | c.388N>T | p.Asp130Tyr | p.D130Y | Q7KZ85 | protein_coding | deleterious(0) | possibly_damaging(0.791) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
SUPT6H | SNV | Missense_Mutation | | c.5009N>G | p.Ala1670Gly | p.A1670G | Q7KZ85 | protein_coding | tolerated(0.37) | benign(0.066) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SUPT6H | SNV | Missense_Mutation | rs755836482 | c.4562N>C | p.Gly1521Ala | p.G1521A | Q7KZ85 | protein_coding | tolerated(0.12) | possibly_damaging(0.505) | TCGA-A8-A08B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SUPT6H | SNV | Missense_Mutation | | c.3218N>T | p.Ala1073Val | p.A1073V | Q7KZ85 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SUPT6H | SNV | Missense_Mutation | | c.3817N>C | p.Glu1273Gln | p.E1273Q | Q7KZ85 | protein_coding | deleterious(0.01) | probably_damaging(0.989) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SUPT6H | SNV | Missense_Mutation | | c.295G>A | p.Asp99Asn | p.D99N | Q7KZ85 | protein_coding | deleterious(0.01) | probably_damaging(0.956) | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SUPT6H | SNV | Missense_Mutation | | c.298N>A | p.Asp100Asn | p.D100N | Q7KZ85 | protein_coding | deleterious(0.02) | probably_damaging(0.956) | TCGA-C8-A131-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
SUPT6H | SNV | Missense_Mutation | | c.3779G>C | p.Gly1260Ala | p.G1260A | Q7KZ85 | protein_coding | deleterious(0.02) | possibly_damaging(0.705) | TCGA-C8-A27B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SUPT6H | SNV | Missense_Mutation | | c.22N>A | p.Glu8Lys | p.E8K | Q7KZ85 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.905) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SUPT6H | SNV | Missense_Mutation | | c.388G>T | p.Asp130Tyr | p.D130Y | Q7KZ85 | protein_coding | deleterious(0) | possibly_damaging(0.791) | TCGA-D8-A1X7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | ChemotherapyHormone Therapy | doxorubicine+cyclophosphamide+tamoxifen | SD |