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/EDEM2_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/EDEM2_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/EDEM2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | ![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/Thyroid/EDEM2_pca_on_diff_genes.png) | 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:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:0016032111 | Esophagus | ESCC | viral process | 301/8552 | 415/18723 | 3.34e-29 | 1.32e-26 | 301 |
GO:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0033157110 | Esophagus | ESCC | regulation of intracellular protein transport | 169/8552 | 229/18723 | 3.31e-18 | 3.23e-16 | 169 |
GO:0032388110 | Esophagus | ESCC | positive regulation of intracellular transport | 152/8552 | 202/18723 | 7.89e-18 | 7.36e-16 | 152 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:1904951111 | Esophagus | ESCC | positive regulation of establishment of protein localization | 216/8552 | 319/18723 | 1.01e-15 | 6.86e-14 | 216 |
GO:001908017 | Esophagus | ESCC | viral gene expression | 80/8552 | 94/18723 | 2.04e-15 | 1.28e-13 | 80 |
GO:009031617 | Esophagus | ESCC | positive regulation of intracellular protein transport | 122/8552 | 160/18723 | 2.45e-15 | 1.49e-13 | 122 |
GO:0006986111 | Esophagus | ESCC | response to unfolded protein | 107/8552 | 137/18723 | 7.01e-15 | 3.87e-13 | 107 |
GO:0051222111 | Esophagus | ESCC | positive regulation of protein transport | 204/8552 | 303/18723 | 1.56e-14 | 8.38e-13 | 204 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:003043314 | Esophagus | ESCC | ubiquitin-dependent ERAD pathway | 66/8552 | 85/18723 | 1.64e-09 | 3.78e-08 | 66 |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:003252714 | Esophagus | ESCC | protein exit from endoplasmic reticulum | 37/8552 | 48/18723 | 8.99e-06 | 8.65e-05 | 37 |
GO:00190826 | Esophagus | ESCC | viral protein processing | 24/8552 | 29/18723 | 4.50e-05 | 3.55e-04 | 24 |
GO:003097014 | Esophagus | ESCC | retrograde protein transport, ER to cytosol | 23/8552 | 29/18723 | 2.25e-04 | 1.40e-03 | 23 |
GO:190351314 | Esophagus | ESCC | endoplasmic reticulum to cytosol transport | 23/8552 | 29/18723 | 2.25e-04 | 1.40e-03 | 23 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04141211 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0414122 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414132 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414130 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa04141113 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa04141210 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
hsa0414138 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
hsa0414145 | Oral cavity | EOLP | Protein processing in endoplasmic reticulum | 70/1218 | 174/8465 | 2.84e-17 | 3.06e-15 | 1.81e-15 | 70 |
hsa0414155 | Oral cavity | EOLP | Protein processing in endoplasmic reticulum | 70/1218 | 174/8465 | 2.84e-17 | 3.06e-15 | 1.81e-15 | 70 |
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 |
EDEM2 | SNV | Missense_Mutation | | c.1079C>A | p.Thr360Lys | p.T360K | Q9BV94 | protein_coding | deleterious(0.03) | possibly_damaging(0.725) | TCGA-A8-A075-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | CR |
EDEM2 | SNV | Missense_Mutation | rs140405715 | c.1132N>G | p.Met378Val | p.M378V | Q9BV94 | protein_coding | deleterious(0.04) | possibly_damaging(0.718) | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
EDEM2 | SNV | Missense_Mutation | novel | c.772N>A | p.Asp258Asn | p.D258N | Q9BV94 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
EDEM2 | SNV | Missense_Mutation | rs754555510 | c.476N>A | p.Arg159Gln | p.R159Q | Q9BV94 | protein_coding | tolerated(0.29) | benign(0.145) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EDEM2 | SNV | Missense_Mutation | rs146309337 | c.1565N>T | p.Ser522Leu | p.S522L | Q9BV94 | protein_coding | tolerated(0.32) | benign(0) | TCGA-B6-A402-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | PD |
EDEM2 | SNV | Missense_Mutation | | c.1706T>C | p.Leu569Ser | p.L569S | Q9BV94 | protein_coding | deleterious_low_confidence(0) | benign(0.075) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EDEM2 | SNV | Missense_Mutation | novel | c.1042N>C | p.Gly348Arg | p.G348R | Q9BV94 | protein_coding | tolerated(0.06) | probably_damaging(0.964) | TCGA-GI-A2C9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | | SD |
EDEM2 | insertion | In_Frame_Ins | novel | c.300_301insTCATTCTTATAC | p.Val100_Leu101insSerPheLeuTyr | p.V100_L101insSFLY | Q9BV94 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EDEM2 | insertion | Nonsense_Mutation | novel | c.299_300insTTGTCATCTGTAAATGAAG | p.Leu101CysfsTer4 | p.L101Cfs*4 | Q9BV94 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EDEM2 | insertion | Frame_Shift_Ins | novel | c.761_762insAGTGCCTGCAGAATCAGTTCTGAATTCAGAGTCACTAT | p.Ala255ValfsTer24 | p.A255Vfs*24 | Q9BV94 | protein_coding | | | TCGA-BH-A0DP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |