Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/RNF40_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/RNF40_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/RNF40_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/RNF40_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004217627 | Esophagus | HGIN | regulation of protein catabolic process | 119/2587 | 391/18723 | 8.09e-18 | 2.43e-15 | 119 |
GO:001049826 | Esophagus | HGIN | proteasomal protein catabolic process | 139/2587 | 490/18723 | 1.20e-17 | 3.41e-15 | 139 |
GO:190331120 | Esophagus | HGIN | regulation of mRNA metabolic process | 91/2587 | 288/18723 | 5.06e-15 | 9.78e-13 | 91 |
GO:005068419 | Esophagus | HGIN | regulation of mRNA processing | 55/2587 | 137/18723 | 2.17e-14 | 3.94e-12 | 55 |
GO:004586227 | Esophagus | HGIN | positive regulation of proteolysis | 107/2587 | 372/18723 | 2.61e-14 | 4.60e-12 | 107 |
GO:190336227 | Esophagus | HGIN | regulation of cellular protein catabolic process | 81/2587 | 255/18723 | 1.16e-13 | 1.93e-11 | 81 |
GO:190332027 | Esophagus | HGIN | regulation of protein modification by small protein conjugation or removal | 78/2587 | 242/18723 | 1.40e-13 | 2.26e-11 | 78 |
GO:000989626 | Esophagus | HGIN | positive regulation of catabolic process | 126/2587 | 492/18723 | 1.46e-12 | 2.09e-10 | 126 |
GO:003133126 | Esophagus | HGIN | positive regulation of cellular catabolic process | 112/2587 | 427/18723 | 5.15e-12 | 6.72e-10 | 112 |
GO:190305027 | Esophagus | HGIN | regulation of proteolysis involved in cellular protein catabolic process | 70/2587 | 221/18723 | 6.21e-12 | 7.76e-10 | 70 |
GO:006113627 | Esophagus | HGIN | regulation of proteasomal protein catabolic process | 60/2587 | 187/18723 | 1.10e-10 | 1.12e-08 | 60 |
GO:004573227 | Esophagus | HGIN | positive regulation of protein catabolic process | 69/2587 | 231/18723 | 1.66e-10 | 1.64e-08 | 69 |
GO:003139627 | Esophagus | HGIN | regulation of protein ubiquitination | 64/2587 | 210/18723 | 3.02e-10 | 2.71e-08 | 64 |
GO:190336427 | Esophagus | HGIN | positive regulation of cellular protein catabolic process | 51/2587 | 155/18723 | 1.01e-09 | 8.15e-08 | 51 |
GO:190180020 | Esophagus | HGIN | positive regulation of proteasomal protein catabolic process | 41/2587 | 114/18723 | 2.25e-09 | 1.67e-07 | 41 |
GO:190305219 | Esophagus | HGIN | positive regulation of proteolysis involved in cellular protein catabolic process | 45/2587 | 133/18723 | 3.55e-09 | 2.53e-07 | 45 |
GO:000020916 | Esophagus | HGIN | protein polyubiquitination | 58/2587 | 236/18723 | 6.29e-06 | 1.97e-04 | 58 |
GO:190331226 | Esophagus | HGIN | negative regulation of mRNA metabolic process | 29/2587 | 92/18723 | 1.01e-05 | 2.92e-04 | 29 |
GO:00165708 | Esophagus | HGIN | histone modification | 92/2587 | 463/18723 | 1.70e-04 | 3.30e-03 | 92 |
GO:19033228 | Esophagus | HGIN | positive regulation of protein modification by small protein conjugation or removal | 35/2587 | 138/18723 | 2.11e-04 | 3.88e-03 | 35 |
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 |
RNF40 | SNV | Missense_Mutation | | c.2281A>G | p.Thr761Ala | p.T761A | O75150 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-A2-A0YE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Taxotere | SD |
RNF40 | SNV | Missense_Mutation | | c.1547G>T | p.Gly516Val | p.G516V | O75150 | protein_coding | tolerated(0.37) | benign(0.202) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
RNF40 | SNV | Missense_Mutation | | c.589N>C | p.Glu197Gln | p.E197Q | O75150 | protein_coding | tolerated(0.9) | possibly_damaging(0.73) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RNF40 | SNV | Missense_Mutation | rs751674221 | c.179N>G | p.Ala60Gly | p.A60G | O75150 | protein_coding | tolerated(0.21) | benign(0.373) | TCGA-AC-A3OD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNF40 | SNV | Missense_Mutation | | c.1409N>A | p.Leu470Gln | p.L470Q | O75150 | protein_coding | deleterious(0.05) | probably_damaging(0.999) | TCGA-BH-A208-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF40 | SNV | Missense_Mutation | | c.1330N>C | p.Glu444Gln | p.E444Q | O75150 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNF40 | SNV | Missense_Mutation | | c.2390N>G | p.Asn797Ser | p.N797S | O75150 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-GM-A2DF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
RNF40 | insertion | In_Frame_Ins | novel | c.1599_1600insATTGGATGTATAAAAAAAAAAAAGAAAAAA | p.Gly533_His534insIleGlyCysIleLysLysLysLysLysLys | p.G533_H534insIGCIKKKKKK | O75150 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
RNF40 | insertion | In_Frame_Ins | novel | c.2947_2948insCTTGTCCTTTTGAGGGGACACATGATA | p.Cys983delinsSerCysProPheGluGlyThrHisAspSer | p.C983delinsSCPFEGTHDS | O75150 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNF40 | insertion | Nonsense_Mutation | novel | c.355_356insGACGGGGGCTCAGGGCCCC | p.Ser119Ter | p.S119* | O75150 | protein_coding | | | TCGA-AO-A03L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |