2-butenoylglycine to glutamine conjugate of c6h10o2 (1)*

Numerator Metabolite

Structure of 2-butenoylglycine
Metabolite Accession: GCST90200152
Name: 2-butenoylglycine
Hmdb Id: HMDB0341232
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWJXRJJBIVSSNF

Denominator Metabolite

Metabolite Accession: GCST90200176
Name: glutamine conjugate of c6h10o2 (1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
0.322
Position:
211540507
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
17.293
Reference Allele:
C
-log10(P):
-152.610
MAF:
0.326
Beta (Num):
0.262
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.060
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism (acyl glycine).4[1], 5[2]

Denominator Metabolite Explanation:

Glutamine metabolism.6[1], 7[2]

Ratio Explanation:

The ratio may reflect altered nitrogen and fatty acid metabolism, where CPS1 dysfunction could influence glutamine availability for conjugation with fatty acid derivatives.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can lead to hyperammonemia, affecting nitrogen balance and is associated with cholelithiasis.8[1], 9[2] This may alter glutamine levels, impacting the conjugation and clearance of fatty acid metabolites, potentially contributing to the phenotype.

Phenotype Driver:

Gene-centric:CPS1

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