Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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:003312019 | Oral cavity | LP | positive regulation of RNA splicing | 21/4623 | 37/18723 | 3.08e-05 | 4.74e-04 | 21 |
GO:004802616 | Oral cavity | LP | positive regulation of mRNA splicing, via spliceosome | 14/4623 | 22/18723 | 1.23e-04 | 1.44e-03 | 14 |
GO:006101317 | Oral cavity | LP | regulation of mRNA catabolic process | 62/4623 | 166/18723 | 1.87e-04 | 2.06e-03 | 62 |
GO:004348717 | Oral cavity | LP | regulation of RNA stability | 62/4623 | 170/18723 | 3.94e-04 | 3.82e-03 | 62 |
GO:000038117 | Oral cavity | LP | regulation of alternative mRNA splicing, via spliceosome | 27/4623 | 60/18723 | 4.71e-04 | 4.43e-03 | 27 |
GO:004348817 | Oral cavity | LP | regulation of mRNA stability | 58/4623 | 158/18723 | 4.93e-04 | 4.62e-03 | 58 |
GO:190236914 | Oral cavity | LP | negative regulation of RNA catabolic process | 29/4623 | 75/18723 | 5.06e-03 | 3.15e-02 | 29 |
GO:190331124 | Oral cavity | EOLP | regulation of mRNA metabolic process | 102/2218 | 288/18723 | 8.13e-26 | 2.44e-22 | 102 |
GO:004348426 | Oral cavity | EOLP | regulation of RNA splicing | 59/2218 | 148/18723 | 2.64e-18 | 5.27e-15 | 59 |
GO:000838025 | Oral cavity | EOLP | RNA splicing | 115/2218 | 434/18723 | 2.24e-17 | 3.04e-14 | 115 |
GO:005068424 | Oral cavity | EOLP | regulation of mRNA processing | 55/2218 | 137/18723 | 2.54e-17 | 3.04e-14 | 55 |
GO:000640224 | Oral cavity | EOLP | mRNA catabolic process | 74/2218 | 232/18723 | 3.36e-16 | 2.51e-13 | 74 |
GO:004802425 | Oral cavity | EOLP | regulation of mRNA splicing, via spliceosome | 42/2218 | 101/18723 | 3.41e-14 | 1.28e-11 | 42 |
GO:006101323 | Oral cavity | EOLP | regulation of mRNA catabolic process | 55/2218 | 166/18723 | 3.70e-13 | 1.11e-10 | 55 |
GO:000640124 | Oral cavity | EOLP | RNA catabolic process | 77/2218 | 278/18723 | 3.92e-13 | 1.12e-10 | 77 |
GO:004348823 | Oral cavity | EOLP | regulation of mRNA stability | 50/2218 | 158/18723 | 2.91e-11 | 4.15e-09 | 50 |
GO:000037725 | Oral cavity | EOLP | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 80/2218 | 320/18723 | 4.20e-11 | 5.60e-09 | 80 |
GO:000039825 | Oral cavity | EOLP | mRNA splicing, via spliceosome | 80/2218 | 320/18723 | 4.20e-11 | 5.60e-09 | 80 |
GO:000037525 | Oral cavity | EOLP | RNA splicing, via transesterification reactions | 80/2218 | 324/18723 | 8.11e-11 | 9.53e-09 | 80 |
GO:004348723 | Oral cavity | EOLP | regulation of RNA stability | 51/2218 | 170/18723 | 1.63e-10 | 1.68e-08 | 51 |
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 |
THRAP3 | SNV | Missense_Mutation | novel | c.953N>A | p.Gly318Asp | p.G318D | Q9Y2W1 | protein_coding | tolerated(0.22) | benign(0.215) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
THRAP3 | SNV | Missense_Mutation | | c.2428N>A | p.Asp810Asn | p.D810N | Q9Y2W1 | protein_coding | tolerated(0.69) | possibly_damaging(0.873) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
THRAP3 | SNV | Missense_Mutation | | c.869N>A | p.Gly290Asp | p.G290D | Q9Y2W1 | protein_coding | tolerated(0.07) | possibly_damaging(0.726) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
THRAP3 | SNV | Missense_Mutation | | c.880N>G | p.Gln294Glu | p.Q294E | Q9Y2W1 | protein_coding | tolerated(0.12) | possibly_damaging(0.79) | TCGA-BH-A1EV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
THRAP3 | SNV | Missense_Mutation | | c.144N>C | p.Arg48Ser | p.R48S | Q9Y2W1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-BH-A1FU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
THRAP3 | SNV | Missense_Mutation | rs749716914 | c.2080G>A | p.Asp694Asn | p.D694N | Q9Y2W1 | protein_coding | deleterious(0.02) | possibly_damaging(0.709) | TCGA-C8-A131-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
THRAP3 | SNV | Missense_Mutation | | c.2081A>T | p.Asp694Val | p.D694V | Q9Y2W1 | protein_coding | deleterious(0) | possibly_damaging(0.848) | TCGA-C8-A131-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
THRAP3 | SNV | Missense_Mutation | | c.302N>C | p.Arg101Pro | p.R101P | Q9Y2W1 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
THRAP3 | SNV | Missense_Mutation | | c.1403N>T | p.Ser468Leu | p.S468L | Q9Y2W1 | protein_coding | tolerated(0.67) | benign(0.15) | TCGA-E2-A9RU-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
THRAP3 | SNV | Missense_Mutation | | c.320A>C | p.Tyr107Ser | p.Y107S | Q9Y2W1 | protein_coding | deleterious(0.01) | probably_damaging(0.918) | TCGA-E9-A1N8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |