glutamine conjugate of c6h10o2 (2)* to stearate (18:0)

Numerator Metabolite

Metabolite Accession: GCST90200173

Name: glutamine conjugate of c6h10o2 (2)*

Hmdb Id: NA

Super Pathway: NA

Sub Pathway: NA

Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200390

Name: stearate (18:0)

Hmdb Id: HMDB0000827

Super Pathway: NA

Sub Pathway: NA

Inchikey: QIQXTHQIDYTFRH

Associated Genomic Regions

Region: rs35630725;rs1890452

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:

Beta (Ratio):

0.174

Position:

76192508

SE (Ratio):

0.017

Effect Allele:

Z-score (Ratio):

10.192

Reference Allele:

-log10(P):

-54.493

MAF:

0.337

Beta (Num):

0.129

Novel Locus:

SE (Num):

0.015

Beta (Den):

-0.045

SE (Den):

0.016

No CNV overlap

rQTL cluster:

161

Reaction Distance:

Closest Genes:

ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, Glutamine conjugation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

This ratio likely reflects impaired medium-chain fatty acid oxidation, leading to an increase in the conjugated C6-dicarboxylic acid numerator relative to the long-chain fatty acid pool denominator.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

No phenotype provided. However, genetic variation in ACADM can lead to medium-chain acyl-CoA dehydrogenase deficiency by altering this ratio, which is an inborn error of metabolism.3^[1], 4^[2]

Phenotype Driver:

none

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data