Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | 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 | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:19033625 | Colorectum | CRC | regulation of cellular protein catabolic process | 53/2078 | 255/18723 | 4.58e-06 | 1.87e-04 | 53 |
GO:00507673 | Colorectum | CRC | regulation of neurogenesis | 68/2078 | 364/18723 | 1.11e-05 | 3.62e-04 | 68 |
GO:00068983 | Colorectum | CRC | receptor-mediated endocytosis | 50/2078 | 244/18723 | 1.27e-05 | 4.08e-04 | 50 |
GO:00071783 | Colorectum | CRC | transmembrane receptor protein serine/threonine kinase signaling pathway | 66/2078 | 355/18723 | 1.74e-05 | 5.28e-04 | 66 |
GO:00715592 | Colorectum | CRC | response to transforming growth factor beta | 51/2078 | 256/18723 | 2.33e-05 | 6.65e-04 | 51 |
GO:00457325 | Colorectum | CRC | positive regulation of protein catabolic process | 47/2078 | 231/18723 | 2.75e-05 | 7.49e-04 | 47 |
GO:00444035 | Colorectum | CRC | biological process involved in symbiotic interaction | 55/2078 | 290/18723 | 4.82e-05 | 1.12e-03 | 55 |
GO:00715602 | Colorectum | CRC | cellular response to transforming growth factor beta stimulus | 49/2078 | 250/18723 | 5.17e-05 | 1.19e-03 | 49 |
GO:00313335 | Colorectum | CRC | negative regulation of protein-containing complex assembly | 31/2078 | 141/18723 | 1.42e-04 | 2.62e-03 | 31 |
GO:00066503 | Colorectum | CRC | glycerophospholipid metabolic process | 55/2078 | 306/18723 | 2.10e-04 | 3.55e-03 | 55 |
GO:00450173 | Colorectum | CRC | glycerolipid biosynthetic process | 47/2078 | 252/18723 | 2.47e-04 | 4.06e-03 | 47 |
GO:00071792 | Colorectum | CRC | transforming growth factor beta receptor signaling pathway | 39/2078 | 198/18723 | 2.58e-04 | 4.19e-03 | 39 |
GO:00066443 | Colorectum | CRC | phospholipid metabolic process | 65/2078 | 383/18723 | 3.21e-04 | 4.95e-03 | 65 |
GO:00508923 | Colorectum | CRC | intestinal absorption | 13/2078 | 41/18723 | 3.29e-04 | 5.04e-03 | 13 |
GO:19029044 | Colorectum | CRC | negative regulation of supramolecular fiber organization | 34/2078 | 167/18723 | 3.30e-04 | 5.05e-03 | 34 |
GO:00517015 | Colorectum | CRC | biological process involved in interaction with host | 39/2078 | 203/18723 | 4.36e-04 | 6.40e-03 | 39 |
GO:00900921 | Colorectum | CRC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 46/2078 | 256/18723 | 6.66e-04 | 8.77e-03 | 46 |
GO:00521265 | Colorectum | CRC | movement in host environment | 34/2078 | 175/18723 | 8.00e-04 | 1.01e-02 | 34 |
GO:00519602 | Colorectum | CRC | regulation of nervous system development | 71/2078 | 443/18723 | 9.28e-04 | 1.14e-02 | 71 |
GO:00464861 | Colorectum | CRC | glycerolipid metabolic process | 64/2078 | 392/18723 | 1.01e-03 | 1.19e-02 | 64 |
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 | |