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mutLBSgeneDB |
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| Gene summary for LRP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | LRP1 |
| Gene name | low density lipoprotein receptor-related protein 1 | |
| Synonyms | A2MR|APOER|APR|CD91|IGFBP3R|LRP|LRP1A|TGFBR5 | |
| Cytomap | UCSC genome browser: 12q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002332.2, | |
| Description | LRP-1TbetaR-V/LRP-1/IGFBP-3 receptoralpha-2-macroglobulin receptorapolipoprotein E receptorprolow-density lipoprotein receptor-related protein 1type V tgf-beta receptor | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 107770 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000123384 | ||
| HPRD : 00138 | ||
| Vega : OTTHUMG00000044412 | ||
| Protein | UniProt: Q07954 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_LRP1 | |
| BioGPS: 4035 | ||
| Pathway | NCI Pathway Interaction Database: LRP1 | |
| KEGG: LRP1 | ||
| REACTOME: LRP1 | ||
| Pathway Commons: LRP1 | ||
| Context | iHOP: LRP1 | |
| ligand binding site mutation search in PubMed: LRP1 | ||
| UCL Cancer Institute: LRP1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for LRP1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W871 | E869K | COAD | 1 | D1001,D997 | D999G | GBM | 1 | S965 | R964G | HNSC | 1 | D2799 | C2800F | OV | 1 | W45 | R46Q | STAD | 1 | D1083 | R1081C | STAD | 1 | W1032 | H1031Q | THCA | 1 | C2794 | C2794Y | UCEC | 1 | W45 | R46Q | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for LRP1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | W1032 | H1031Q | -1.2652115 | C2794 | C2794Y | -1.1782726 | W871 | E869K | -1.1173379 | D1001 | D999G | -1.085503 | D997 | D999G | -1.085503 | D1083 | R1081C | -1.0617585 | S965 | R964G | -0.9969842 | W45 | R46Q | -0.75973342 | D2799 | C2800F | -0.71584285 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for LRP1 from PDB |
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| Differential gene expression and gene-gene network for LRP1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for LRP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0149931 | Migraine Disorders | 5 | Biomarker, GeneticVariation |
| umls:C0338480 | Migraine without Aura | 1 | Biomarker |
| umls:C0036341 | Schizophrenia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for LRP1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB00025 | Antihemophilic Factor (Recombinant) | Biotech |  |
| Approved | DB00031 | Tenecteplase | Biotech |  |
| Approved | DB00100 | Coagulation Factor IX | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of LRP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of LRP1 |
| Multiple alignments for Q07954 in multiple species |
| LBS | AA sequence | # species | Species | C2794 | PERWLCDGDKD | 3 | Homo sapiens, Gallus gallus, Mus musculus | C996 | NINWRCDNDND | 3 | Homo sapiens, Gallus gallus, Mus musculus | D1001 | CDNDNDCGDNS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D1007 | CGDNSDEAGCS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D1039 | CDGDNDCGDYS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D1045 | CGDYSDETHAN | 3 | Homo sapiens, Gallus gallus, Mus musculus | D1083 | LRWRCDGDTDC | 2 | Homo sapiens, Mus musculus | D1083 | MRWRCDGDTDC | 1 | Gallus gallus | D1085 | WRCDGDTDCMD | 3 | Homo sapiens, Gallus gallus, Mus musculus | D1087 | CDGDTDCMDSS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D1093 | CMDSSDEKSCE | 2 | Homo sapiens, Mus musculus | D1093 | CMDSSDEKNCE | 1 | Gallus gallus | D2795 | ERWLCDGDKDC | 3 | Homo sapiens, Gallus gallus, Mus musculus | D2797 | WLCDGDKDCAD | 2 | Homo sapiens, Gallus gallus | D2797 | WLCDGDKDCTD | 1 | Mus musculus | D2799 | CDGDKDCADGA | 2 | Homo sapiens, Gallus gallus | D2799 | CDGDKDCTDGA | 1 | Mus musculus | D2805 | CADGADESIAA | 1 | Homo sapiens | D2805 | CADGADETLAA | 1 | Gallus gallus | D2805 | CTDGADESVTA | 1 | Mus musculus | D874 | ERWKCDGDNDC | 3 | Homo sapiens, Gallus gallus, Mus musculus | D876 | WKCDGDNDCLD | 3 | Homo sapiens, Gallus gallus, Mus musculus | D878 | CDGDNDCLDNS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D884 | CLDNSDEAPAL | 2 | Homo sapiens, Mus musculus | D884 | CLDNSDEAPEL | 1 | Gallus gallus | D917 | WLCDGDNDCGN | 3 | Homo sapiens, Gallus gallus, Mus musculus | D956 | ISWTCDLDDDC | 3 | Homo sapiens, Gallus gallus, Mus musculus | D958 | WTCDLDDDCGD | 3 | Homo sapiens, Gallus gallus, Mus musculus | D960 | CDLDDDCGDRS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D966 | CGDRSDESASC | 3 | Homo sapiens, Gallus gallus, Mus musculus | D997 | INWRCDNDNDC | 3 | Homo sapiens, Gallus gallus, Mus musculus | E1008 | GDNSDEAGCSH | 3 | Homo sapiens, Gallus gallus, Mus musculus | E1046 | GDYSDETHANC | 3 | Homo sapiens, Gallus gallus, Mus musculus | E1094 | MDSSDEKSCEG | 2 | Homo sapiens, Mus musculus | E1094 | MDSSDEKNCEG | 1 | Gallus gallus | E2806 | ADGADESIAAG | 1 | Homo sapiens | E2806 | ADGADETLAAG | 1 | Gallus gallus | E2806 | TDGADESVTAG | 1 | Mus musculus | E885 | LDNSDEAPALC | 2 | Homo sapiens, Mus musculus | E885 | LDNSDEAPELC | 1 | Gallus gallus | E967 | GDRSDESASCA | 3 | Homo sapiens, Gallus gallus, Mus musculus | G875 | RWKCDGDNDCL | 3 | Homo sapiens, Gallus gallus, Mus musculus | R995 | ININWRCDNDN | 3 | Homo sapiens, Gallus gallus, Mus musculus | S965 | DCGDRSDESAS | 3 | Homo sapiens, Gallus gallus, Mus musculus | T1086 | RCDGDTDCMDS | 3 | Homo sapiens, Gallus gallus, Mus musculus | T954 | IPISWTCDLDD | 3 | Homo sapiens, Gallus gallus, Mus musculus | W1032 | CIPEHWTCDGD | 2 | Homo sapiens, Mus musculus | W1032 | CIPVHWTCDGD | 1 | Gallus gallus | W45 | CISKGWRCDGE | 3 | Homo sapiens, Gallus gallus, Mus musculus | W871 | CIQERWKCDGD | 3 | Homo sapiens, Gallus gallus, Mus musculus | W912 | CIPNRWLCDGD | 3 | Homo sapiens, Gallus gallus, Mus musculus | W953 | CIPISWTCDLD | 3 | Homo sapiens, Gallus gallus, Mus musculus | W994 | CININWRCDND | 3 | Homo sapiens, Gallus gallus, Mus musculus |
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