Expressive

rs113206698 (EXOC6): Brain FFAR4 Expression eQTL

Key takeaways

  • rs113206698 sits near the EXOC6 gene and a class of small non-coding RNA called Y_RNA
  • The alternate allele is linked to higher FFAR4 expression in the brain region called substantia nigra
  • The same allele is linked to lower BTAF1 expression in connective tissue cells grown in a lab
  • No large studies have connected this variant to any disease or clinical condition
  • All current evidence is from gene expression data, not clinical outcomes research

Key takeaways

  • rs113206698 sits near the EXOC6 gene (exocyst complex component 6, involved in directing membrane vesicles to the cell surface) and a Y_RNA, a class of small non-coding RNA
  • The alternate allele is linked to increased expression of FFAR4 (free fatty acid receptor 4) in brain substantia nigra tissue
  • The alternate allele is also associated with reduced BTAF1 (a chromatin-remodeling transcription factor) expression in cultured fibroblasts
  • No large-scale studies in the provided literature directly report clinical or disease associations for this specific variant
  • All current evidence is limited to tissue-level gene expression data

What the research says No studies in the provided literature report phenotypic or clinical associations for rs113206698. GTEx v11 eQTL data (953 donors) identifies this variant as linked to increased expression of FFAR4 in brain substantia nigra tissue (p=2.2e-5) GTEx Portal. The same analysis associates the alternate allele with reduced BTAF1 expression in cultured fibroblasts (p=2.0e-4) GTEx Portal.

Reported associations

  • FFAR4 expression (brain substantia nigra): The alternate allele is linked to increased expression of FFAR4, a receptor that responds to long-chain free fatty acids, in brain substantia nigra tissue GTEx Portal
  • BTAF1 expression (cultured fibroblasts): The alternate allele is associated with reduced expression of BTAF1, a chromatin-remodeling factor involved in regulating gene transcription, in cultured fibroblasts GTEx Portal

Evidence quality All evidence for rs113206698 in the provided literature comes from GTEx v11 eQTL data (953 donors, cis-window analysis, FDR<0.05). Both signals clear the FDR threshold within GTEx's methodology. No GWAS, clinical study, or replication dataset in the provided literature reports phenotypic or disease associations for this variant. eQTL associations reflect gene-expression differences across genotype groups and do not establish causal links to clinical outcomes. Both findings should be considered preliminary until replicated in independent cohorts and functionally characterized.

Tissue-specific expression effects

  • FFAR4: The alternate allele is associated with increased expression in brain substantia nigra tissue GTEx Portal
  • BTAF1: The alternate allele is associated with reduced expression in cultured fibroblasts GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs113206698?

rs113206698 is a DNA variant in a genomic region associated with the EXOC6 gene and a Y_RNA non-coding RNA. Available data links it to changes in gene expression in specific tissues, but no clinical or disease associations have been established.

What does the EXOC6 gene do?

EXOC6 encodes a component of the exocyst complex, a group of proteins that guides membrane-bound vesicles to the correct location at the cell surface, supporting processes like cell signaling and secretion.

What is FFAR4 and why might its expression in the brain matter?

FFAR4 (free fatty acid receptor 4) is a cell-surface receptor that detects long-chain fatty acids. The substantia nigra, where this variant's eQTL effect appears, is involved in movement control and reward signaling, though what altered FFAR4 expression means there has not been established by the available evidence.

What is an eQTL and what does it tell us about a variant?

An eQTL (expression quantitative trait locus) is a DNA variant linked to differences in how actively a nearby gene is read to build proteins. This describes a potential molecular mechanism but does not by itself establish a connection to any disease or health outcome.

Is rs113206698 associated with any disease?

No studies in the available literature report a direct association between rs113206698 and any disease or clinical condition. The only documented effects are changes in gene expression levels in specific tissues from GTEx data.