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:1903844 | Colorectum | FAP | regulation of cellular response to transforming growth factor beta stimulus | 31/2622 | 131/18723 | 2.01e-03 | 1.67e-02 | 31 |
GO:00066442 | Colorectum | FAP | phospholipid metabolic process | 74/2622 | 383/18723 | 2.24e-03 | 1.83e-02 | 74 |
GO:00060663 | Colorectum | FAP | alcohol metabolic process | 69/2622 | 353/18723 | 2.29e-03 | 1.85e-02 | 69 |
GO:0060389 | Colorectum | FAP | pathway-restricted SMAD protein phosphorylation | 18/2622 | 65/18723 | 2.85e-03 | 2.19e-02 | 18 |
GO:00444093 | Colorectum | FAP | entry into host | 34/2622 | 151/18723 | 3.02e-03 | 2.28e-02 | 34 |
GO:00507681 | Colorectum | FAP | negative regulation of neurogenesis | 32/2622 | 140/18723 | 3.08e-03 | 2.32e-02 | 32 |
GO:0010721 | Colorectum | FAP | negative regulation of cell development | 39/2622 | 180/18723 | 3.25e-03 | 2.40e-02 | 39 |
GO:0090092 | Colorectum | FAP | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 52/2622 | 256/18723 | 3.33e-03 | 2.44e-02 | 52 |
GO:00519611 | Colorectum | FAP | negative regulation of nervous system development | 32/2622 | 145/18723 | 5.41e-03 | 3.53e-02 | 32 |
GO:0015914 | Colorectum | FAP | phospholipid transport | 23/2622 | 96/18723 | 6.09e-03 | 3.82e-02 | 23 |
GO:00450172 | Colorectum | FAP | glycerolipid biosynthetic process | 50/2622 | 252/18723 | 6.32e-03 | 3.95e-02 | 50 |
GO:00226002 | Colorectum | FAP | digestive system process | 24/2622 | 104/18723 | 8.41e-03 | 4.89e-02 | 24 |
GO:00508922 | Colorectum | FAP | intestinal absorption | 12/2622 | 41/18723 | 8.57e-03 | 4.96e-02 | 12 |
GO:00160325 | Colorectum | CRC | viral process | 95/2078 | 415/18723 | 3.31e-12 | 3.30e-09 | 95 |
GO:00421765 | Colorectum | CRC | regulation of protein catabolic process | 87/2078 | 391/18723 | 1.30e-10 | 6.49e-08 | 87 |
GO:00098965 | Colorectum | CRC | positive regulation of catabolic process | 102/2078 | 492/18723 | 2.48e-10 | 1.06e-07 | 102 |
GO:00313315 | Colorectum | CRC | positive regulation of cellular catabolic process | 90/2078 | 427/18723 | 1.19e-09 | 4.20e-07 | 90 |
GO:00432545 | Colorectum | CRC | regulation of protein-containing complex assembly | 87/2078 | 428/18723 | 1.38e-08 | 2.67e-06 | 87 |
GO:19029035 | Colorectum | CRC | regulation of supramolecular fiber organization | 80/2078 | 383/18723 | 1.52e-08 | 2.75e-06 | 80 |
GO:00190585 | Colorectum | CRC | viral life cycle | 69/2078 | 317/18723 | 2.70e-08 | 3.84e-06 | 69 |
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 | |