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PSMB9 - ENSG00000240065

proteasome subunit beta 9

Also known as: RING12, beta1i, PSMB6i

Location: chr6:32,811,913-32,827,362

Gene Type: protein coding

More information
NCBI Gene
5698
HUGO
HGNC:9546
Ensembl
ENSG00000240065
VEGA
OTTHUMG00000031287
OMIM
177045
UniProtKB
P28065

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.

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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 European 1 0.161 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
NG00065 European 1 0.174 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 Meta 18 0.249 N/A 1 0.029 623.6 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 6 0.284 N/A 1 0.060 47.1 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 6 0.298 N/A 1 0.060 47.1 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 6 0.326 N/A 1 0.060 47.1 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 1 0.364 N/A 0 9.6e-05 2.0 PCs and sequencing center VEP HIGH
NG00065 European 16 0.520 N/A 1 0.028 576.5 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 18 0.719 N/A 0 0.029 623.6 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Meta 18 0.751 N/A 0 0.029 623.6 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 16 0.861 N/A 0 0.028 576.5 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 16 0.896 N/A 1 0.028 576.5 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

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the PSMB9 gene.

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The PSMB9 gene contains 1,568 variants records (corresponding to 1,462 unique genomic positions).

The following variants, contained within ±100kb of PSMB9, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of PSMB9 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 N/A 2.4e-12 ADSP Single-Variant Risk Association: European (Model 2) NG00065
in gene N/A 2.4e-12 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065
in gene 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 PSMB9 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of PSMB9, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of PSMB9 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 PSMB9 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 PSMB9 gene (chr6:32811913-32827362)

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