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SORL1 - ENSG00000137642

sortilin related receptor 1

Also known as: gp250, LR11, LRP9, SorLA, SorLA-1

Location: chr11:121,322,912-121,504,402

Gene Type: protein coding

More information
NCBI Gene
6653
HUGO
HGNC:11185
Ensembl
ENSG00000137642
VEGA
OTTHUMG00000166057
OMIM
602005
UniProtKB
Q92673

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 European 221 4.0e-04 N/A 1 0.124 2591.3 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 232 1.1e-03 N/A 1 0.126 2726.5 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 16 3.9e-03 N/A 1 8.6e-04 18.0 PCs and sequencing center VEP HIGH N/A
NG00065 European 15 5.6e-03 N/A 1 8.1e-04 17.0 PCs and sequencing center LOF N/A
NG00065 Meta 232 0.064 N/A 1 0.126 2726.5 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 232 0.083 N/A 1 0.126 2726.5 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 221 0.115 N/A 1 0.124 2591.3 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 221 0.126 N/A 1 0.124 2591.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 15 0.496 N/A 0 8.1e-04 17.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF N/A
NG00065 European 16 0.506 N/A 0 8.6e-04 18.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH N/A
NG00065 European 15 0.628 N/A 0 8.1e-04 17.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF N/A
NG00065 European 16 0.641 N/A 0 8.6e-04 18.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH N/A
NG00065 Caribbean Hispanic 27 0.742 N/A 1 0.091 72.1 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 27 0.744 N/A 1 0.091 72.1 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 27 0.756 N/A 1 0.091 72.1 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the SORL1 gene.

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The SORL1 gene contains 11,115 variants records (corresponding to 10,752 unique genomic positions).

The following variants, contained within ±100kb of SORL1, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of SORL1 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

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Relative Position Variant ADSP? Allele p-Value Track Accession
in gene C 9.7e-15 IGAP 2013: Stages 1 and 2 NG00036
in gene C 5.0e-11 IGAP 2013: Stage 1 NG00036
in gene A 3.2e-9 IGAP 2013: Stages 1 and 2 NG00036
downstream C 5.4e-9 IGAP 2013: Stage 1 NG00036
in gene T 6.2e-9 IGAP 2013: Stages 1 and 2 NG00036
in gene G 7.6e-9 IGAP 2013: Stages 1 and 2 NG00036
in gene C 8.7e-9 IGAP 2013: Stages 1 and 2 NG00036
in gene G 1.5e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene N/A 2.0e-8 ADSP Single-Variant Risk Association: European (Model 1) NG00065
in gene N/A 2.0e-8 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
in gene N/A 2.0e-8 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
in gene A 2.8e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene C 2.9e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene T 3.5e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene A 3.6e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene A 3.7e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene G 4.3e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene C 4.8e-8 IGAP 2013: Stages 1 and 2 NG00036

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of SORL1 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of SORL1, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of SORL1 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of SORL1 that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the SORL1 gene (chr11:121322912-121504402)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0044267 cellular protein metabolic process TAS
BP GO:0008203 cholesterol metabolic process IEA
BP GO:0006897 endocytosis IEA
BP GO:0006629 lipid metabolic process IEA
BP GO:0006869 lipid transport IEA
BP GO:1902960 negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IEA,IMP,IDA
BP GO:1902430 negative regulation of beta-amyloid formation IMP,IDA,IEA
BP GO:0043407 negative regulation of MAP kinase activity ISS,IEA
BP GO:1902963 negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process IMP,IEA
BP GO:1902997 negative regulation of neurofibrillary tangle assembly IEA,ISS
BP GO:0050768 negative regulation of neurogenesis IEA,ISS
BP GO:1901215 negative regulation of neuron death IEA,ISS
BP GO:0032091 negative regulation of protein binding IDA
BP GO:0032460 negative regulation of protein oligomerization IMP
BP GO:1902948 negative regulation of tau-protein kinase activity IEA,ISS
BP GO:1902771 positive regulation of choline O-acetyltransferase activity ISS,IEA
BP GO:1902955 positive regulation of early endosome to recycling endosome transport IMP
BP GO:2001137 positive regulation of endocytic recycling IMP
BP GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport IMP
BP GO:0045732 positive regulation of protein catabolic process IDA
BP GO:0070863 positive regulation of protein exit from endoplasmic reticulum IMP
BP GO:1902966 positive regulation of protein localization to early endosome IMP
BP GO:0006892 post-Golgi vesicle-mediated transport IDA
BP GO:0051604 protein maturation IDA
BP GO:0045053 protein retention in Golgi apparatus IDA,IEA
BP GO:0006605 protein targeting IMP,IDA
BP GO:0000042 protein targeting to Golgi IDA
BP GO:0006622 protein targeting to lysosome IDA
BP GO:0006898 receptor-mediated endocytosis TAS
BP GO:0014910 regulation of smooth muscle cell migration IDA
BP GO:0007165 signal transduction IEA
BP GO:0008202 steroid metabolic process IEA
BP GO:0006810 transport IEA
CC GO:0005769 early endosome IDA,IMP
CC GO:0005783 endoplasmic reticulum IDA
CC GO:0005768 endosome IDA,IEA
CC GO:0010008 endosome membrane TAS
CC GO:0070062 extracellular exosome IDA
CC GO:0005576 extracellular region IEA
CC GO:0005615 extracellular space IDA
CC GO:0005794 Golgi apparatus IEA,IDA
CC GO:0031985 Golgi cisterna IDA
CC GO:0000139 Golgi membrane TAS
CC GO:0016021 integral component of membrane IEA
CC GO:0005887 integral component of plasma membrane TAS
CC GO:0034362 low-density lipoprotein particle IEA
CC GO:0016020 membrane IEA,IDA
CC GO:0005641 nuclear envelope lumen IEA,IDA
CC GO:0055037 recycling endosome IMP
CC GO:0005802 trans-Golgi network IDA
MF GO:0030306 ADP-ribosylation factor binding IPI
MF GO:0001540 beta-amyloid binding IPI,IDA
MF GO:0030169 low-density lipoprotein particle binding IPI
MF GO:0005515 protein binding IPI
MF GO:0004888 transmembrane signaling receptor activity TAS

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.