mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for SORL1
Gene summary
Basic gene Info.Gene symbolSORL1
Gene namesortilin-related receptor, L(DLR class) A repeats containing
CytomapUCSC genome browser: 11q23.2-q24.2
Type of geneprotein-coding
DescriptionLDLR relative with 11 ligand-binding repeatslow-density lipoprotein receptor relative with 11 ligand-binding repeatsmosaic protein LR11sortilin-related receptorsortilin-related receptor, L(DLR class) A repeats-containingsorting protein-related recept
Modification date20141207
dbXrefs MIM : 602005
Ensembl : ENSG00000137642
HPRD : 03595
Vega : OTTHUMG00000166057
ProteinUniProt: Q92673
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SORL1
BioGPS: 6653
PathwayNCI Pathway Interaction Database: SORL1
Pathway Commons: SORL1
ContextiHOP: SORL1
ligand binding site mutation search in PubMed: SORL1
UCL Cancer Institute: SORL1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000042protein targeting to Golgi17855360
GO:0006605protein targeting16407538
GO:0006622protein targeting to lysosome24523320
GO:0006892post-Golgi vesicle-mediated transport17855360
GO:0014910regulation of smooth muscle cell migration14764453
GO:0032091negative regulation of protein binding16407538
GO:0045053protein retention in Golgi apparatus17855360
GO:0045732positive regulation of protein catabolic process24523320
GO:0051604protein maturation17855360
GO:1902430negative regulation of beta-amyloid formation16407538
GO:1902960negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process16407538

Ligand binding site mutations for SORL1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for SORL1
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

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.
LBSAAchange of nsSNVRelative stability change
(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 SORL1 from PDB

Differential gene expression and gene-gene network for SORL1
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)
* Left PPI network was created from samples with mutations in the LBS of SORL1 and the right PPI network was created from samples without mutations in the LBS of SORL1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SORL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0002395Alzheimer Disease41AlteredExpression, Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for SORL1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SORL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (LEU,PRO,GLN,ASP,ARG,GLY,PHE,LEU,VAL,VAL,GLN)3wsyAH108 Y584 F600
IIIPeptide ligand (ALA,ALA,ALA,ALA,ALA,ALA,ALA)3wszAY584

Conservation information for LBS of SORL1
Multiple alignments for Q92673 in multiple species
LBSAA sequence# speciesSpecies

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