Genomic Context

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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 Meta 4 0.378 N/A 0 2.3e-04 5.0 PCs and sequencing center VEP HIGH
NG00065 European 1 0.434 N/A 0 4.8e-05 1.0 PCs and sequencing center LOF
NG00065 European 2 0.471 N/A 0 9.6e-05 2.0 PCs and sequencing center VEP HIGH
NG00065 Caribbean Hispanic 2 0.511 N/A 0 2.5e-03 2.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 Caribbean Hispanic 2 0.519 N/A 0 2.5e-03 2.0 PCs and sequencing center LOF
NG00065 Meta 64 0.541 N/A 1 0.020 435.3 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 Caribbean Hispanic 2 0.546 N/A 0 2.5e-03 2.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 European 59 0.550 N/A 1 0.020 411.0 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 64 0.562 N/A 1 0.020 435.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 59 0.583 N/A 1 0.020 411.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 3 0.608 N/A 1 3.8e-03 3.0 PCs and sequencing center VEP HIGH
NG00065 European 59 0.614 N/A 0 0.020 411.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 64 0.628 N/A 0 0.020 435.3 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 3 0.634 N/A 1 3.8e-03 3.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 Caribbean Hispanic 3 0.634 N/A 1 3.8e-03 3.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 Meta 4 0.703 N/A 1 2.3e-04 5.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 Meta 4 0.709 N/A 1 2.3e-04 5.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 European 1 0.739 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 European 1 0.750 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 Caribbean Hispanic 15 0.800 N/A 0 0.031 24.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 15 0.807 N/A 0 0.031 24.3 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 Caribbean Hispanic 15 0.807 N/A 0 0.031 24.3 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 2 0.966 N/A 0 9.6e-05 2.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 European 2 0.971 N/A 0 9.6e-05 2.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the DBN1 gene.

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The DBN1 gene contains 1,734 variants records (corresponding to 1,613 unique genomic positions).

The following variants, contained within ±100kb of DBN1, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of DBN1 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
downstream N/A 2.0e-8 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
downstream N/A 2.0e-8 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
downstream N/A 2.0e-8 ADSP Single-Variant Risk Association: European (Model 1) NG00065

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of DBN1 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of DBN1, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of DBN1 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 DBN1 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 DBN1 gene (chr5:176883609-176901402)

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:0007015 actin filament organization IEA,ISS
BP GO:0098609 cell-cell adhesion IEA
BP GO:0010643 cell communication by chemical coupling IEA
BP GO:0010644 cell communication by electrical coupling IEA
BP GO:0030154 cell differentiation IEA
BP GO:0048699 generation of neurons IEA
BP GO:0032507 maintenance of protein location in cell IEA
BP GO:0007275 multicellular organism development IEA
BP GO:0007399 nervous system development IEA
BP GO:0061351 neural precursor cell proliferation IEA
BP GO:0050773 regulation of dendrite development NAS
BP GO:0048168 regulation of neuronal synaptic plasticity NAS
CC GO:0015629 actin cytoskeleton IEA,TAS,ISS
CC GO:0042641 actomyosin NAS
CC GO:0005913 cell-cell adherens junction IDA
CC GO:0005911 cell-cell junction IEA
CC GO:0005938 cell cortex IEA
CC GO:0030054 cell junction IEA
CC GO:0042995 cell projection IEA
CC GO:0005737 cytoplasm IEA,NAS
CC GO:0030425 dendrite NAS
CC GO:0005921 gap junction IEA
CC GO:0030426 growth cone IEA,ISS
CC GO:0005622 intracellular IEA
CC GO:0016020 membrane IEA
CC GO:0005886 plasma membrane IEA
MF GO:0003779 actin binding IEA,TAS,NAS
MF GO:0098641 cadherin binding involved in cell-cell adhesion IDA
MF GO:0005522 profilin binding ISS
MF GO:0005515 protein binding IPI

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.