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NUP160 - ENSG00000030066

nucleoporin 160

Also known as: KIAA0197, FLJ22583

Location: chr11:47,799,639-47,870,107 reverse strand

Gene Type: protein coding

More information
NCBI Gene
23279
HUGO
HGNC:18017
Ensembl
ENSG00000030066
VEGA
OTTHUMG00000166534
OMIM
607614
UniProtKB
Q12769

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 6 0.174 N/A 1 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 6 0.174 N/A 1 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 6 0.252 N/A 1 2.9e-04 6.0 PCs and sequencing center LOF
NG00065 European 6 0.252 N/A 1 2.9e-04 6.0 PCs and sequencing center VEP HIGH
NG00065 European 6 0.327 N/A 1 2.9e-04 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 European 6 0.327 N/A 1 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 Meta 126 0.543 N/A 1 0.014 293.7 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 126 0.547 N/A 1 0.014 293.7 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 119 0.575 N/A 1 0.014 282.7 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 119 0.576 N/A 1 0.014 282.7 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 11 0.609 N/A 0 0.014 11.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 11 0.621 N/A 0 0.014 11.0 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 11 0.633 N/A 0 0.014 11.0 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 126 0.844 N/A 0 0.014 293.7 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 119 0.886 N/A 0 0.014 282.7 PCs and sequencing center VEP MOD-HIGH N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the NUP160 gene.

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The NUP160 gene contains 4,944 variants records (corresponding to 4,658 unique genomic positions).

The following variants, contained within ±100kb of NUP160, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of NUP160 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
upstream N/A 3.6e-14 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
upstream N/A 3.6e-14 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
upstream N/A 3.6e-14 ADSP Single-Variant Risk Association: European (Model 1) NG00065
upstream N/A 8.6e-14 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
upstream N/A 8.6e-14 ADSP Single-Variant Risk Association: European (Model 1) NG00065
upstream N/A 8.6e-14 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
upstream N/A 9.5e-13 ADSP Single-Variant Risk Association: meta analysis (Model 2) NG00065
upstream N/A 9.5e-13 ADSP Single-Variant Risk Association: European (Model 2) NG00065
upstream N/A 9.5e-13 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of NUP160 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of NUP160, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of NUP160 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 NUP160 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 NUP160 gene (chr11:47799639-47870107)

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:0031047 gene silencing by RNA TAS
BP GO:0075733 intracellular transport of virus TAS
BP GO:0007077 mitotic nuclear envelope disassembly TAS
BP GO:0006406 mRNA export from nucleus TAS,IEA,IDA
BP GO:0051028 mRNA transport IEA
BP GO:0016925 protein sumoylation TAS
BP GO:0015031 protein transport IEA
BP GO:1900034 regulation of cellular response to heat TAS
BP GO:0010827 regulation of glucose transport TAS
BP GO:0007062 sister chromatid cohesion TAS
BP GO:0006810 transport IEA
BP GO:0006409 tRNA export from nucleus TAS
BP GO:0016032 viral process TAS
BP GO:0019083 viral transcription TAS
CC GO:0005829 cytosol TAS
CC GO:0000776 kinetochore IDA
CC GO:0005635 nuclear envelope TAS
CC GO:0005643 nuclear pore IDA,IEA
CC GO:0031080 nuclear pore outer ring IDA,NAS
CC GO:0005634 nucleus IEA
MF GO:0005487 nucleocytoplasmic transporter activity IEA,IDA
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.

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Pathway KEGG Accession Graph
RNA transport hsa03013