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:006101320 | Skin | AK | regulation of mRNA catabolic process | 42/1910 | 166/18723 | 1.94e-08 | 1.15e-06 | 42 |
GO:004348820 | Skin | AK | regulation of mRNA stability | 40/1910 | 158/18723 | 4.12e-08 | 2.14e-06 | 40 |
GO:000640125 | Skin | AK | RNA catabolic process | 58/1910 | 278/18723 | 8.82e-08 | 4.08e-06 | 58 |
GO:004348720 | Skin | AK | regulation of RNA stability | 40/1910 | 170/18723 | 3.43e-07 | 1.33e-05 | 40 |
GO:190331317 | Skin | AK | positive regulation of mRNA metabolic process | 31/1910 | 118/18723 | 5.59e-07 | 1.99e-05 | 31 |
GO:003312025 | Skin | AK | positive regulation of RNA splicing | 15/1910 | 37/18723 | 1.35e-06 | 4.16e-05 | 15 |
GO:190331227 | Skin | AK | negative regulation of mRNA metabolic process | 25/1910 | 92/18723 | 3.50e-06 | 8.86e-05 | 25 |
GO:004275210 | Skin | AK | regulation of circadian rhythm | 28/1910 | 121/18723 | 2.62e-05 | 4.65e-04 | 28 |
GO:00506856 | Skin | AK | positive regulation of mRNA processing | 12/1910 | 32/18723 | 3.94e-05 | 6.42e-04 | 12 |
GO:190237315 | Skin | AK | negative regulation of mRNA catabolic process | 17/1910 | 63/18723 | 1.36e-04 | 1.68e-03 | 17 |
GO:190236917 | Skin | AK | negative regulation of RNA catabolic process | 19/1910 | 75/18723 | 1.41e-04 | 1.71e-03 | 19 |
GO:004802618 | Skin | AK | positive regulation of mRNA splicing, via spliceosome | 9/1910 | 22/18723 | 1.70e-04 | 1.96e-03 | 9 |
GO:003465520 | Skin | AK | nucleobase-containing compound catabolic process | 64/1910 | 407/18723 | 3.01e-04 | 3.12e-03 | 64 |
GO:000095619 | Skin | AK | nuclear-transcribed mRNA catabolic process | 24/1910 | 112/18723 | 3.34e-04 | 3.39e-03 | 24 |
GO:004825515 | Skin | AK | mRNA stabilization | 15/1910 | 56/18723 | 3.62e-04 | 3.58e-03 | 15 |
GO:00434899 | Skin | AK | RNA stabilization | 16/1910 | 65/18723 | 6.54e-04 | 5.64e-03 | 16 |
GO:004670019 | Skin | AK | heterocycle catabolic process | 64/1910 | 445/18723 | 3.01e-03 | 1.88e-02 | 64 |
GO:004427020 | Skin | AK | cellular nitrogen compound catabolic process | 64/1910 | 451/18723 | 4.11e-03 | 2.41e-02 | 64 |
GO:001943919 | Skin | AK | aromatic compound catabolic process | 65/1910 | 467/18723 | 5.99e-03 | 3.24e-02 | 65 |
GO:190136119 | Skin | AK | organic cyclic compound catabolic process | 67/1910 | 495/18723 | 9.91e-03 | 4.80e-02 | 67 |
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 |