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mutLBSgeneDB |
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| Gene summary for SORL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SORL1 |
| Gene name | sortilin-related receptor, L(DLR class) A repeats containing | |
| Synonyms | C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250 | |
| Cytomap | UCSC genome browser: 11q23.2-q24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003105.5, | |
| Description | LDLR 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 date | 20141207 | |
| dbXrefs | MIM : 602005 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137642 | ||
| HPRD : 03595 | ||
| Vega : OTTHUMG00000166057 | ||
| Protein | UniProt: Q92673 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SORL1 | |
| BioGPS: 6653 | ||
| Pathway | NCI Pathway Interaction Database: SORL1 | |
| KEGG: SORL1 | ||
| REACTOME: SORL1 | ||
| Pathway Commons: SORL1 | ||
| Context | iHOP: SORL1 | |
| ligand binding site mutation search in PubMed: SORL1 | ||
| UCL Cancer Institute: SORL1 | ||
| 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 | GO:0000042 | protein targeting to Golgi | 17855360 | GO:0006605 | protein targeting | 16407538 | GO:0006622 | protein targeting to lysosome | 24523320 | GO:0006892 | post-Golgi vesicle-mediated transport | 17855360 | GO:0014910 | regulation of smooth muscle cell migration | 14764453 | GO:0032091 | negative regulation of protein binding | 16407538 | GO:0045053 | protein retention in Golgi apparatus | 17855360 | GO:0045732 | positive regulation of protein catabolic process | 24523320 | GO:0051604 | protein maturation | 17855360 | GO:1902430 | negative regulation of beta-amyloid formation | 16407538 | GO:1902960 | negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process | 16407538 |
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| Ligand binding site mutations for SORL1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F600 | I599M | BLCA | 1 | Y584 | G585D | STAD | 1 | H108 | A110T | 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 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 |
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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 | F600 | I599M | -1.1518308 | Y584 | G585D | -0.55073569 | H108 | A110T | -0.5053454 |
| (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 |
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| 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) |
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| Phenotype information for SORL1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0002395 | Alzheimer Disease | 41 | AlteredExpression, Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SORL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LEU,PRO,GLN,ASP,ARG,GLY,PHE,LEU,VAL,VAL,GLN) | 3wsy | A | H108 Y584 F600 | III | Peptide ligand (ALA,ALA,ALA,ALA,ALA,ALA,ALA) | 3wsz | A | Y584 |
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| Conservation information for LBS of SORL1 |
| Multiple alignments for Q92673 in multiple species |
| LBS | AA sequence | # species | Species |
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