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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
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:19018803 | Oral cavity | NEOLP | negative regulation of protein depolymerization | 16/2005 | 72/18723 | 3.43e-03 | 2.04e-02 | 16 |
GO:001660122 | Oral cavity | NEOLP | Rac protein signal transduction | 11/2005 | 42/18723 | 3.82e-03 | 2.19e-02 | 11 |
GO:003083412 | Oral cavity | NEOLP | regulation of actin filament depolymerization | 13/2005 | 54/18723 | 3.86e-03 | 2.21e-02 | 13 |
GO:00308357 | Oral cavity | NEOLP | negative regulation of actin filament depolymerization | 11/2005 | 45/18723 | 6.72e-03 | 3.42e-02 | 11 |
GO:00083441 | Oral cavity | NEOLP | adult locomotory behavior | 15/2005 | 71/18723 | 7.39e-03 | 3.73e-02 | 15 |
GO:00300427 | Oral cavity | NEOLP | actin filament depolymerization | 13/2005 | 59/18723 | 8.52e-03 | 4.15e-02 | 13 |
GO:00516936 | Oral cavity | NEOLP | actin filament capping | 10/2005 | 41/18723 | 9.71e-03 | 4.55e-02 | 10 |
GO:190290318 | Prostate | BPH | regulation of supramolecular fiber organization | 133/3107 | 383/18723 | 2.40e-18 | 8.73e-16 | 133 |
GO:000701518 | Prostate | BPH | actin filament organization | 147/3107 | 442/18723 | 3.36e-18 | 1.15e-15 | 147 |
GO:003297018 | Prostate | BPH | regulation of actin filament-based process | 133/3107 | 397/18723 | 7.07e-17 | 1.62e-14 | 133 |
GO:003295618 | Prostate | BPH | regulation of actin cytoskeleton organization | 118/3107 | 358/18723 | 1.51e-14 | 1.87e-12 | 118 |
GO:004325418 | Prostate | BPH | regulation of protein-containing complex assembly | 133/3107 | 428/18723 | 5.40e-14 | 6.08e-12 | 133 |
GO:005101718 | Prostate | BPH | actin filament bundle assembly | 65/3107 | 157/18723 | 1.31e-13 | 1.38e-11 | 65 |
GO:011005318 | Prostate | BPH | regulation of actin filament organization | 96/3107 | 278/18723 | 1.90e-13 | 1.89e-11 | 96 |
GO:006157218 | Prostate | BPH | actin filament bundle organization | 65/3107 | 161/18723 | 5.29e-13 | 4.75e-11 | 65 |
GO:002260417 | Prostate | BPH | regulation of cell morphogenesis | 99/3107 | 309/18723 | 1.30e-11 | 9.72e-10 | 99 |
GO:005125818 | Prostate | BPH | protein polymerization | 96/3107 | 297/18723 | 1.52e-11 | 1.10e-09 | 96 |
GO:003227118 | Prostate | BPH | regulation of protein polymerization | 80/3107 | 233/18723 | 2.67e-11 | 1.78e-09 | 80 |
GO:00072658 | Prostate | BPH | Ras protein signal transduction | 101/3107 | 337/18723 | 5.64e-10 | 2.79e-08 | 101 |
GO:000815416 | Prostate | BPH | actin polymerization or depolymerization | 72/3107 | 218/18723 | 1.82e-09 | 7.59e-08 | 72 |
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 |
EPS8 | SNV | Missense_Mutation | | c.982N>C | p.Phe328Leu | p.F328L | Q12929 | protein_coding | tolerated(0.05) | possibly_damaging(0.533) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EPS8 | SNV | Missense_Mutation | | c.1785G>T | p.Leu595Phe | p.L595F | Q12929 | protein_coding | tolerated(0.32) | benign(0.003) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
EPS8 | SNV | Missense_Mutation | | c.1508A>G | p.His503Arg | p.H503R | Q12929 | protein_coding | tolerated(0.35) | benign(0) | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
EPS8 | SNV | Missense_Mutation | | c.220N>T | p.Val74Phe | p.V74F | Q12929 | protein_coding | deleterious(0) | possibly_damaging(0.57) | TCGA-B6-A0RP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
EPS8 | SNV | Missense_Mutation | rs776013800 | c.287C>G | p.Ala96Gly | p.A96G | Q12929 | protein_coding | deleterious(0.01) | possibly_damaging(0.574) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EPS8 | SNV | Missense_Mutation | rs369986759 | c.794N>A | p.Arg265His | p.R265H | Q12929 | protein_coding | deleterious(0) | benign(0.097) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
EPS8 | SNV | Missense_Mutation | | c.1313A>T | p.Glu438Val | p.E438V | Q12929 | protein_coding | deleterious(0) | possibly_damaging(0.459) | TCGA-E9-A22G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
EPS8 | insertion | Frame_Shift_Ins | novel | c.2371_2372insTTGCTGTTTTAGGTAGTATGGCCATTTTCAC | p.Ser791PhefsTer29 | p.S791Ffs*29 | Q12929 | protein_coding | | | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
EPS8 | SNV | Missense_Mutation | rs147224631 | c.1300N>T | p.Arg434Cys | p.R434C | Q12929 | protein_coding | deleterious(0) | benign(0.125) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EPS8 | SNV | Missense_Mutation | | c.1499N>C | p.Arg500Thr | p.R500T | Q12929 | protein_coding | tolerated(0.08) | benign(0.024) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |