hexanoylglutamine to glutamine conjugate of c7h12o2*

Numerator Metabolite

Structure of hexanoylglutamine
Metabolite Accession: GCST90199833
Name: hexanoylglutamine
Hmdb Id: HMDB0242182
Super Pathway: NA
Sub Pathway: NA
Inchikey: NONGMLDQXRDGIT

Denominator Metabolite

Metabolite Accession: GCST90200167
Name: glutamine conjugate of c7h12o2*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs7524467

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:
1
Beta (Ratio):
-0.392
Position:
76194054
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
-28.239
Reference Allele:
C
-log10(P):
-402.279
MAF:
0.307
Beta (Num):
-0.284
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.108
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Acylglutamine metabolism.4[1]

Denominator Metabolite Explanation:

Glutamine conjugation.5[1], 6[2]

Ratio Explanation:

The ratio reflects ACADM activity; impaired function increases hexanoyl-CoA, which is shunted to hexanoylglutamine, elevating the ratio relative to another glutamine conjugate.1[1], 7[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in ACADM impair fatty acid oxidation, altering metabolite levels, including this ratio.1[1], 7[2] This systemic metabolic disruption contributes to phenotypes like altered body weight, hematological parameters, and serum creatinine, all associated with MCAD deficiency.8[3], 9[4]

Phenotype Driver:

Gene-centric:ACADM

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