Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/ORMDL3_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Colorectum (GSE201348) | ![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/Colorectum/Becker/ORMDL3_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/ORMDL3_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/ORMDL3_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/ORMDL3_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/ORMDL3_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/ORMDL3_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:000989614 | Breast | IDC | positive regulation of catabolic process | 62/1434 | 492/18723 | 7.06e-05 | 1.42e-03 | 62 |
GO:005134814 | Breast | IDC | negative regulation of transferase activity | 39/1434 | 268/18723 | 7.89e-05 | 1.56e-03 | 39 |
GO:001921612 | Breast | IDC | regulation of lipid metabolic process | 45/1434 | 331/18723 | 1.21e-04 | 2.24e-03 | 45 |
GO:003133114 | Breast | IDC | positive regulation of cellular catabolic process | 54/1434 | 427/18723 | 1.85e-04 | 3.07e-03 | 54 |
GO:00468904 | Breast | IDC | regulation of lipid biosynthetic process | 26/1434 | 171/18723 | 5.92e-04 | 7.50e-03 | 26 |
GO:190382914 | Breast | IDC | positive regulation of cellular protein localization | 36/1434 | 276/18723 | 1.19e-03 | 1.28e-02 | 36 |
GO:00030125 | Breast | IDC | muscle system process | 50/1434 | 452/18723 | 5.52e-03 | 4.05e-02 | 50 |
GO:0070229 | Breast | IDC | negative regulation of lymphocyte apoptotic process | 7/1434 | 30/18723 | 6.48e-03 | 4.56e-02 | 7 |
GO:005134824 | Breast | DCIS | negative regulation of transferase activity | 39/1390 | 268/18723 | 4.02e-05 | 8.60e-04 | 39 |
GO:000989624 | Breast | DCIS | positive regulation of catabolic process | 61/1390 | 492/18723 | 5.32e-05 | 1.09e-03 | 61 |
GO:003133124 | Breast | DCIS | positive regulation of cellular catabolic process | 54/1390 | 427/18723 | 8.34e-05 | 1.58e-03 | 54 |
GO:001921621 | Breast | DCIS | regulation of lipid metabolic process | 43/1390 | 331/18723 | 2.37e-04 | 3.71e-03 | 43 |
GO:190382924 | Breast | DCIS | positive regulation of cellular protein localization | 37/1390 | 276/18723 | 3.40e-04 | 4.87e-03 | 37 |
GO:004689012 | Breast | DCIS | regulation of lipid biosynthetic process | 24/1390 | 171/18723 | 1.89e-03 | 1.81e-02 | 24 |
GO:000301212 | Breast | DCIS | muscle system process | 50/1390 | 452/18723 | 3.02e-03 | 2.57e-02 | 50 |
GO:0009896 | Colorectum | AD | positive regulation of catabolic process | 180/3918 | 492/18723 | 4.33e-16 | 1.94e-13 | 180 |
GO:0031331 | Colorectum | AD | positive regulation of cellular catabolic process | 156/3918 | 427/18723 | 4.68e-14 | 1.05e-11 | 156 |
GO:1903829 | Colorectum | AD | positive regulation of cellular protein localization | 110/3918 | 276/18723 | 4.58e-13 | 8.44e-11 | 110 |
GO:0010506 | Colorectum | AD | regulation of autophagy | 111/3918 | 317/18723 | 3.57e-09 | 2.35e-07 | 111 |
GO:1900180 | Colorectum | AD | regulation of protein localization to nucleus | 55/3918 | 136/18723 | 1.70e-07 | 7.34e-06 | 55 |
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 |
ORMDL3 | SNV | Missense_Mutation | | c.221N>T | p.Thr74Ile | p.T74I | Q8N138 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ORMDL3 | SNV | Missense_Mutation | novel | c.373N>A | p.Val125Met | p.V125M | Q8N138 | protein_coding | tolerated(0.05) | benign(0.021) | TCGA-A7-A3J0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrazole | SD |
ORMDL3 | SNV | Missense_Mutation | | c.398G>A | p.Ser133Asn | p.S133N | Q8N138 | protein_coding | deleterious(0.04) | benign(0.171) | TCGA-AP-A0LI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | SD |
ORMDL3 | SNV | Missense_Mutation | novel | c.79G>A | p.Val27Met | p.V27M | Q8N138 | protein_coding | tolerated(0.07) | benign(0.214) | TCGA-AX-A2HG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ORMDL3 | SNV | Missense_Mutation | rs759149603 | c.142G>A | p.Val48Ile | p.V48I | Q8N138 | protein_coding | tolerated(0.11) | benign(0.339) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ORMDL3 | SNV | Missense_Mutation | novel | c.260A>C | p.Glu87Ala | p.E87A | Q8N138 | protein_coding | deleterious(0) | possibly_damaging(0.779) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ORMDL3 | SNV | Missense_Mutation | novel | c.62N>A | p.Gly21Asp | p.G21D | Q8N138 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ORMDL3 | SNV | Missense_Mutation | novel | c.286A>T | p.Thr96Ser | p.T96S | Q8N138 | protein_coding | tolerated(0.11) | probably_damaging(0.992) | TCGA-95-7043-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
ORMDL3 | SNV | Missense_Mutation | novel | c.223N>A | p.Pro75Thr | p.P75T | Q8N138 | protein_coding | tolerated(0.51) | probably_damaging(0.999) | TCGA-43-3920-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ORMDL3 | SNV | Missense_Mutation | rs139204234 | c.197N>T | p.Thr66Met | p.T66M | Q8N138 | protein_coding | tolerated(0.24) | possibly_damaging(0.885) | TCGA-BA-6869-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |