rs115920108 (ABI3BP): Multi-Tissue Expression Variant
Key takeaways
- rs115920108, near ABI3BP, reduces expression of three genes across three distinct tissue types
- Affected genes are CEP97 in thyroid, SENP7 in esophageal mucosa, and NXPE3 in whole blood
- All findings come from GTEx v11 (953 donors) and represent expression-level associations, not disease diagnoses
- No disease associations or clinical outcomes are reported in available sources for this variant
Key takeaways
- rs115920108, a variant near the ABI3BP gene, is associated with reduced expression of three genes across three distinct tissue types
- The alternative allele lowers CEP97 expression in thyroid tissue, SENP7 expression in esophageal mucosa, and NXPE3 expression in whole blood
- All three associations come from GTEx v11 population data (953 donors, FDR<0.05) and are expression-level findings, not disease diagnoses
- No disease associations or clinical outcomes for this variant are reported in the available study sources
What the research says GTEx v11 analysis (953 donors, FDR<0.05 across a cis-window) identified rs115920108 as an expression quantitative trait locus (eQTL), a type of genetic variant correlated with the expression level of nearby genes, with effects detected across three tissues GTEx Portal. The alternative allele is linked to reduced expression of CEP97 in thyroid (p=8.7e-5), SENP7 in esophageal mucosa (p=1.2e-4), and NXPE3 in whole blood (p=1.3e-5) GTEx Portal. A genome-wide protein quantitative trait loci (pQTL) study in 287 human liver samples found that over 2,000 pQTL variants had no corresponding eQTL signal, highlighting that mRNA expression and protein levels can diverge substantially due to post-transcriptional regulation, which means eQTL findings like these may not directly predict protein abundance.
Reported associations
- CEP97 expression in thyroid tissue: The alternative allele is associated with reduced CEP97 expression in thyroid tissue GTEx Portal
- SENP7 expression in esophageal mucosa: The alternative allele is associated with reduced SENP7 expression in esophageal mucosal tissue GTEx Portal
- NXPE3 expression in whole blood: The alternative allele is associated with reduced NXPE3 expression in circulating blood GTEx Portal
Evidence quality All three eQTL associations are drawn from GTEx v11 (953 donors), with FDR<0.05 applied across a cis-window GTEx Portal. The consistent directionality (reduced expression in all three tissues with the alternative allele) is notable, but no independent replication of these specific associations is referenced in the available sources. A pQTL study in 287 human liver samples demonstrated that over 2,000 pQTL variants showed no corresponding eQTL signal, indicating that post-transcriptional regulation can substantially decouple mRNA and protein levels; this introduces uncertainty about whether the observed eQTL effects translate to protein-level changes. No disease-level associations or clinical phenotype data are reported for this locus in the provided sources, and the evidence should be considered preliminary.
Tissue-specific expression effects
- CEP97: Reduced expression in thyroid tissue with the alternative allele GTEx Portal
- SENP7: Reduced expression in esophageal mucosa with the alternative allele GTEx Portal
- NXPE3: Reduced expression in whole blood with the alternative allele GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs115920108?
rs115920108 is a genetic variant located near the ABI3BP gene. GTEx v11 analysis of 953 donors has identified it as an eQTL, a variant associated with changes in gene expression levels, with effects detected in multiple tissues.
Which genes does rs115920108 affect?
GTEx v11 data shows the alternative allele of rs115920108 is associated with reduced expression of CEP97 in thyroid tissue, SENP7 in esophageal mucosa, and NXPE3 in whole blood.
Is rs115920108 linked to any disease?
No disease associations are reported for rs115920108 in currently available study sources. The evidence is limited to gene expression associations from population-level data, and should be considered preliminary.
What is an eQTL and why does it matter for this variant?
An eQTL (expression quantitative trait locus) is a genetic variant correlated with how much a gene is expressed in a given tissue. Research has shown that mRNA expression and protein levels can diverge substantially due to post-transcriptional regulation, so eQTL findings may not directly predict protein abundance or clinical outcomes.
What tissues are affected by rs115920108?
Based on GTEx v11 data, rs115920108 shows eQTL effects in three tissues: thyroid (reduced CEP97 expression), esophageal mucosa (reduced SENP7 expression), and whole blood (reduced NXPE3 expression).