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/EDEM3_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/EDEM3_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Prostate | ![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/Prostate/EDEM3_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/EDEM3_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:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:0006986111 | Esophagus | ESCC | response to unfolded protein | 107/8552 | 137/18723 | 7.01e-15 | 3.87e-13 | 107 |
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:00700854 | Esophagus | ESCC | glycosylation | 144/8552 | 240/18723 | 5.12e-06 | 5.38e-05 | 144 |
GO:00064865 | Esophagus | ESCC | protein glycosylation | 135/8552 | 226/18723 | 1.36e-05 | 1.24e-04 | 135 |
GO:00434135 | Esophagus | ESCC | macromolecule glycosylation | 135/8552 | 226/18723 | 1.36e-05 | 1.24e-04 | 135 |
GO:00091012 | Esophagus | ESCC | glycoprotein biosynthetic process | 181/8552 | 317/18723 | 2.54e-05 | 2.15e-04 | 181 |
GO:19011362 | Esophagus | ESCC | carbohydrate derivative catabolic process | 99/8552 | 172/18723 | 1.11e-03 | 5.54e-03 | 99 |
GO:00065173 | Esophagus | ESCC | protein deglycosylation | 19/8552 | 26/18723 | 4.31e-03 | 1.71e-02 | 19 |
GO:0006516 | Esophagus | ESCC | glycoprotein catabolic process | 19/8552 | 28/18723 | 1.49e-02 | 4.84e-02 | 19 |
GO:00431617 | Liver | NAFLD | proteasome-mediated ubiquitin-dependent protein catabolic process | 91/1882 | 412/18723 | 3.00e-13 | 1.75e-10 | 91 |
GO:00104987 | Liver | NAFLD | proteasomal protein catabolic process | 101/1882 | 490/18723 | 1.35e-12 | 6.09e-10 | 101 |
GO:0006517 | Liver | NAFLD | protein deglycosylation | 9/1882 | 26/18723 | 6.56e-04 | 8.50e-03 | 9 |
GO:0036507 | Liver | NAFLD | protein demannosylation | 6/1882 | 18/18723 | 6.55e-03 | 4.69e-02 | 6 |
GO:0036508 | Liver | NAFLD | protein alpha-1,2-demannosylation | 6/1882 | 18/18723 | 6.55e-03 | 4.69e-02 | 6 |
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 |
EDEM3 | SNV | Missense_Mutation | novel | c.2516N>A | p.Ser839Tyr | p.S839Y | Q9BZQ6 | protein_coding | tolerated_low_confidence(0.06) | benign(0.172) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EDEM3 | SNV | Missense_Mutation | | c.454N>A | p.Leu152Ile | p.L152I | Q9BZQ6 | protein_coding | deleterious(0.04) | probably_damaging(0.919) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EDEM3 | SNV | Missense_Mutation | novel | c.1903N>G | p.Leu635Val | p.L635V | Q9BZQ6 | protein_coding | tolerated(0.06) | benign(0.443) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EDEM3 | SNV | Missense_Mutation | novel | c.731G>A | p.Gly244Glu | p.G244E | Q9BZQ6 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
EDEM3 | SNV | Missense_Mutation | novel | c.340N>A | p.Leu114Ile | p.L114I | Q9BZQ6 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
EDEM3 | SNV | Missense_Mutation | novel | c.2516N>A | p.Ser839Tyr | p.S839Y | Q9BZQ6 | protein_coding | tolerated_low_confidence(0.06) | benign(0.172) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EDEM3 | SNV | Missense_Mutation | novel | c.2663A>G | p.Gln888Arg | p.Q888R | Q9BZQ6 | protein_coding | tolerated_low_confidence(0.38) | benign(0.026) | TCGA-EY-A1GK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EDEM3 | SNV | Missense_Mutation | novel | c.329N>A | p.Ser110Tyr | p.S110Y | Q9BZQ6 | protein_coding | deleterious(0) | possibly_damaging(0.89) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
EDEM3 | SNV | Missense_Mutation | novel | c.1124N>C | p.Leu375Ser | p.L375S | Q9BZQ6 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-4R-AA8I-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
EDEM3 | SNV | Missense_Mutation | novel | c.1405T>C | p.Tyr469His | p.Y469H | Q9BZQ6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DD-AAE7-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |