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:004206314 | Skin | SCCIS | gliogenesis | 29/919 | 301/18723 | 4.28e-04 | 6.87e-03 | 29 |
GO:00714044 | Skin | SCCIS | cellular response to low-density lipoprotein particle stimulus | 6/919 | 22/18723 | 5.21e-04 | 8.11e-03 | 6 |
GO:004870811 | Skin | SCCIS | astrocyte differentiation | 12/919 | 81/18723 | 5.65e-04 | 8.52e-03 | 12 |
GO:00507296 | Skin | SCCIS | positive regulation of inflammatory response | 17/919 | 142/18723 | 6.03e-04 | 9.04e-03 | 17 |
GO:0031667112 | Skin | SCCIS | response to nutrient levels | 40/919 | 474/18723 | 6.21e-04 | 9.18e-03 | 40 |
GO:001000112 | Skin | SCCIS | glial cell differentiation | 23/919 | 225/18723 | 7.26e-04 | 1.03e-02 | 23 |
GO:190590617 | Skin | SCCIS | regulation of amyloid fibril formation | 5/919 | 16/18723 | 7.82e-04 | 1.06e-02 | 5 |
GO:003210213 | Skin | SCCIS | negative regulation of response to external stimulus | 36/919 | 420/18723 | 8.61e-04 | 1.14e-02 | 36 |
GO:00140021 | Skin | SCCIS | astrocyte development | 8/919 | 43/18723 | 1.02e-03 | 1.27e-02 | 8 |
GO:005076714 | Skin | SCCIS | regulation of neurogenesis | 32/919 | 364/18723 | 1.08e-03 | 1.32e-02 | 32 |
GO:00550941 | Skin | SCCIS | response to lipoprotein particle | 7/919 | 34/18723 | 1.13e-03 | 1.36e-02 | 7 |
GO:005196013 | Skin | SCCIS | regulation of nervous system development | 37/919 | 443/18723 | 1.18e-03 | 1.40e-02 | 37 |
GO:1902903112 | Skin | SCCIS | regulation of supramolecular fiber organization | 33/919 | 383/18723 | 1.27e-03 | 1.49e-02 | 33 |
GO:003134913 | Skin | SCCIS | positive regulation of defense response | 26/919 | 278/18723 | 1.28e-03 | 1.49e-02 | 26 |
GO:001072111 | Skin | SCCIS | negative regulation of cell development | 19/919 | 180/18723 | 1.40e-03 | 1.59e-02 | 19 |
GO:1902904110 | Skin | SCCIS | negative regulation of supramolecular fiber organization | 18/919 | 167/18723 | 1.45e-03 | 1.64e-02 | 18 |
GO:00714023 | Skin | SCCIS | cellular response to lipoprotein particle stimulus | 7/919 | 36/18723 | 1.61e-03 | 1.79e-02 | 7 |
GO:00421164 | Skin | SCCIS | macrophage activation | 13/919 | 106/18723 | 2.05e-03 | 2.11e-02 | 13 |
GO:00430303 | Skin | SCCIS | regulation of macrophage activation | 9/919 | 61/18723 | 2.77e-03 | 2.60e-02 | 9 |
GO:190590717 | Skin | SCCIS | negative regulation of amyloid fibril formation | 4/919 | 13/18723 | 2.89e-03 | 2.66e-02 | 4 |
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 | |