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PSMB8 - ENSG00000204264

proteasome subunit beta 8

Also known as: RING10, D6S216E, PSMB5i, beta5i

Location: chr6:32,808,494-32,812,480 reverse strand

Gene Type: protein coding

More information
NCBI Gene
5696
HUGO
HGNC:9545
Ensembl
ENSG00000204264
VEGA
OTTHUMG00000031285
OMIM
177046
UniProtKB
P28062

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 35 0.238 N/A 0 0.019 397.3 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 Meta 37 0.245 N/A 0 0.019 419.4 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 35 0.402 N/A 0 0.019 397.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Meta 37 0.410 N/A 0 0.019 419.4 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 37 0.418 N/A 0 0.019 419.4 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 35 0.418 N/A 0 0.019 397.3 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 4 0.629 N/A 0 2.9e-04 6.0 PCs and sequencing center LOF
NG00065 European 4 0.629 N/A 0 2.9e-04 6.0 PCs and sequencing center VEP HIGH
NG00065 European 4 0.718 N/A 0 2.9e-04 6.0 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 4 0.718 N/A 0 2.9e-04 6.0 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 4 0.745 N/A 0 2.9e-04 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 European 4 0.745 N/A 0 2.9e-04 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 Caribbean Hispanic 4 0.934 N/A 1 0.028 22.1 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 4 0.937 N/A 1 0.028 22.1 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 4 0.957 N/A 1 0.028 22.1 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

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the PSMB8 gene.

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The PSMB8 gene contains 472 variants records (corresponding to 438 unique genomic positions).

The following variants, contained within ±100kb of PSMB8, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of PSMB8 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 2.4e-12 ADSP Single-Variant Risk Association: European (Model 2) NG00065
downstream N/A 2.4e-12 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065
downstream N/A 2.4e-12 ADSP Single-Variant Risk Association: meta analysis (Model 2) NG00065
upstream N/A 4.4e-11 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
upstream N/A 4.4e-11 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
upstream N/A 4.4e-11 ADSP Single-Variant Risk Association: European (Model 1) NG00065
upstream N/A 1.1e-8 ADSP Single-Variant Risk Association: European (Model 1) NG00065
upstream N/A 1.1e-8 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
upstream N/A 1.1e-8 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of PSMB8 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of PSMB8, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of PSMB8 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 PSMB8 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 PSMB8 gene (chr6:32808494-32812480)

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.

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.

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Pathway KEGG Accession Graph
Proteasome hsa03050