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MAF - ENSG00000178573

MAF bZIP transcription factor

Also known as: c-MAF

Location: chr16:79,619,740-79,634,611 reverse strand

Gene Type: protein coding

More information
NCBI Gene
4094
HUGO
HGNC:6776
Ensembl
ENSG00000178573
VEGA
OTTHUMG00000137621
OMIM
177075
UniProtKB
O75444

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 1 0.197 N/A 0 4.8e-05 1.0 PCs and sequencing center VEP HIGH
NG00065 European 1 0.197 N/A 0 4.8e-05 1.0 PCs and sequencing center LOF
NG00065 Caribbean Hispanic 2 0.358 N/A 1 2.5e-03 2.0 PCs and sequencing center VEP MOD-HIGH
NG00065 Caribbean Hispanic 2 0.369 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 VEP MOD-HIGH
NG00065 Caribbean Hispanic 2 0.386 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) VEP MOD-HIGH
NG00065 European 11 0.445 N/A 1 9.2e-04 19.1 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 European 11 0.487 N/A 1 9.2e-04 19.1 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 1 0.548 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 0.548 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 VEP HIGH
NG00065 European 1 0.556 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) VEP HIGH
NG00065 European 1 0.556 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 European 11 0.578 N/A 1 9.2e-04 19.1 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 13 0.597 N/A 1 9.8e-04 21.1 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 Meta 13 0.626 N/A 1 9.8e-04 21.1 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Meta 13 0.674 N/A 1 9.8e-04 21.1 PCs and sequencing center VEP MOD-HIGH N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the MAF gene.

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The MAF gene contains 1,270 variants records (corresponding to 1,181 unique genomic positions).

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

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of MAF 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.

NHGRI GWAS: Alzheimer's Disease

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

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

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of MAF 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 MAF 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 MAF gene (chr16:79619740-79634611)

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:0048468 cell development IEA
BP GO:0001816 cytokine production IEA
BP GO:0048839 inner ear development IEA
BP GO:0002088 lens development in camera-type eye IEA
BP GO:0070306 lens fiber cell differentiation IEA,IBA
BP GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA
BP GO:0010628 positive regulation of gene expression IEA
BP GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA
BP GO:0032330 regulation of chondrocyte differentiation IEA
BP GO:0006355 regulation of transcription, DNA-templated IEA
BP GO:0006357 regulation of transcription from RNA polymerase II promoter IBA
BP GO:0006351 transcription, DNA-templated IEA
BP GO:0006366 transcription from RNA polymerase II promoter TAS
CC GO:0000785 chromatin TAS
CC GO:0005737 cytoplasm IEA
CC GO:0005634 nucleus IBA,IEA
MF GO:0003677 DNA binding IEA
MF GO:0005515 protein binding IPI
MF GO:0043565 sequence-specific DNA binding IEA
MF GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA,IBA
MF GO:0003700 transcription factor activity, sequence-specific DNA binding IEA

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
Inflammatory bowel disease (IBD) hsa05321
Th1 and Th2 cell differentiation hsa04658
Transcriptional misregulation in cancer hsa05202