Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/LDLR_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/LDLR_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/LDLR_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/LDLR_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/LDLR_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/LDLR_pca_on_diff_genes.png) | 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 | ![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/LDLR_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/LDLR_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/LDLR_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/LDLR_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/LDLR_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/LDLR_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:00082024 | Oral cavity | OSCC | steroid metabolic process | 146/7305 | 319/18723 | 7.78e-03 | 2.85e-02 | 146 |
GO:00486606 | Oral cavity | OSCC | regulation of smooth muscle cell proliferation | 86/7305 | 180/18723 | 1.00e-02 | 3.49e-02 | 86 |
GO:0032366 | Oral cavity | OSCC | intracellular sterol transport | 18/7305 | 29/18723 | 1.00e-02 | 3.49e-02 | 18 |
GO:0032367 | Oral cavity | OSCC | intracellular cholesterol transport | 18/7305 | 29/18723 | 1.00e-02 | 3.49e-02 | 18 |
GO:01501723 | Oral cavity | OSCC | regulation of phosphatidylcholine metabolic process | 8/7305 | 10/18723 | 1.03e-02 | 3.53e-02 | 8 |
GO:00330024 | Oral cavity | OSCC | muscle cell proliferation | 115/7305 | 248/18723 | 1.05e-02 | 3.58e-02 | 115 |
GO:00313495 | Oral cavity | OSCC | positive regulation of defense response | 127/7305 | 278/18723 | 1.32e-02 | 4.39e-02 | 127 |
GO:00487627 | Oral cavity | OSCC | mesenchymal cell differentiation | 109/7305 | 236/18723 | 1.43e-02 | 4.69e-02 | 109 |
GO:00316239 | Oral cavity | OSCC | receptor internalization | 56/7305 | 113/18723 | 1.44e-02 | 4.69e-02 | 56 |
GO:0055094 | Oral cavity | OSCC | response to lipoprotein particle | 20/7305 | 34/18723 | 1.51e-02 | 4.91e-02 | 20 |
GO:0016032110 | Oral cavity | LP | viral process | 211/4623 | 415/18723 | 4.06e-31 | 3.18e-28 | 211 |
GO:0019058110 | Oral cavity | LP | viral life cycle | 161/4623 | 317/18723 | 5.99e-24 | 2.21e-21 | 161 |
GO:0042176110 | Oral cavity | LP | regulation of protein catabolic process | 177/4623 | 391/18723 | 3.00e-19 | 5.87e-17 | 177 |
GO:1903362110 | Oral cavity | LP | regulation of cellular protein catabolic process | 119/4623 | 255/18723 | 1.52e-14 | 1.76e-12 | 119 |
GO:0051701110 | Oral cavity | LP | biological process involved in interaction with host | 100/4623 | 203/18723 | 2.72e-14 | 3.10e-12 | 100 |
GO:0044403110 | Oral cavity | LP | biological process involved in symbiotic interaction | 130/4623 | 290/18723 | 4.23e-14 | 4.64e-12 | 130 |
GO:003238616 | Oral cavity | LP | regulation of intracellular transport | 145/4623 | 337/18723 | 8.58e-14 | 8.27e-12 | 145 |
GO:003238819 | Oral cavity | LP | positive regulation of intracellular transport | 97/4623 | 202/18723 | 4.79e-13 | 4.30e-11 | 97 |
GO:0052126110 | Oral cavity | LP | movement in host environment | 87/4623 | 175/18723 | 6.65e-13 | 5.79e-11 | 87 |
GO:0009896110 | Oral cavity | LP | positive regulation of catabolic process | 187/4623 | 492/18723 | 2.30e-11 | 1.58e-09 | 187 |
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 |
LDLR | SNV | Missense_Mutation | | c.617N>T | p.Ser206Ile | p.S206I | P01130 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
LDLR | SNV | Missense_Mutation | rs376459828 | c.590N>A | p.Cys197Tyr | p.C197Y | P01130 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
LDLR | insertion | Frame_Shift_Ins | | c.241_242insA | p.Arg81GlnfsTer49 | p.R81Qfs*49 | P01130 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LDLR | insertion | Frame_Shift_Ins | novel | c.242_243insTCTCACT | p.Cys82LeufsTer50 | p.C82Lfs*50 | P01130 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LDLR | insertion | Frame_Shift_Ins | novel | c.866_867insGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTC | p.Cys289TrpfsTer26 | p.C289Wfs*26 | P01130 | protein_coding | | | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
LDLR | insertion | Frame_Shift_Ins | novel | c.2350_2351insG | p.Pro784ArgfsTer3 | p.P784Rfs*3 | P01130 | protein_coding | | | TCGA-BH-A0BR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LDLR | insertion | Frame_Shift_Ins | novel | c.2352_2353insCACCGCCACGGCTGGCTAATTTTTGTATTTTT | p.Ser785HisfsTer14 | p.S785Hfs*14 | P01130 | protein_coding | | | TCGA-BH-A0BR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LDLR | deletion | Frame_Shift_Del | novel | c.1931delN | p.Asn645ThrfsTer20 | p.N645Tfs*20 | P01130 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
LDLR | SNV | Missense_Mutation | rs121908029 | c.682N>A | p.Glu228Lys | p.E228K | P01130 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
LDLR | SNV | Missense_Mutation | rs750126678 | c.323N>T | p.Thr108Met | p.T108M | P01130 | protein_coding | deleterious(0.01) | possibly_damaging(0.807) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | Porfimer Sodium | | |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | GEMFIBROZIL | GEMFIBROZIL | 9409246 |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | evolocumab | EVOLOCUMAB | |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | ANTIVIRAL | | 8211145 |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | lovastatin | LOVASTATIN | 16103896 |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | HEPARIN CALCIUM | | 17322644 |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | RETINOL | RETINOL | 2920014 |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | ANTIBIOTICS | | 9470171 |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | PF-429242 | CHEMBL233611 | 17583500 |
3949 | LDLR | ENZYME, CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, CELL SURFACE, DRUGGABLE GENOME | | mipomersen | MIPOMERSEN | |