trans-2-hexenoylglycine to glutamine conjugate of c6h10o2 (2)*

Numerator Metabolite

Structure of trans-2-hexenoylglycine
Metabolite Accession: GCST90200160
Name: trans-2-hexenoylglycine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: AAPHATPOQGNLOZ

Denominator Metabolite

Metabolite Accession: GCST90200173
Name: glutamine conjugate of c6h10o2 (2)*
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):
0.290
Position:
211540507
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
17.233
Reference Allele:
C
-log10(P):
-151.563
MAF:
0.324
Beta (Num):
0.246
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.043
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

Denominator Metabolite Explanation:

unknown

Ratio Explanation:

The ratio likely reflects an imbalance between fatty acid metabolism and an uncharacterized glutamine-conjugated metabolite, potentially influenced by impaired ammonia detoxification due to CPS1 variants.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A CPS1 variant is associated with chronic kidney disease and cholelithiasis.3[1], 4[2], 5[3] Dysfunctional CPS1 may alter nitrogen and fatty acid metabolism, contributing to these pathologies.

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