isobutyrylglycine to homoarginine

Numerator Metabolite

Structure of isobutyrylglycine
Metabolite Accession: GCST90199798
Name: isobutyrylglycine
Hmdb Id: HMDB0000730
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCICDMMXFIELDF

Denominator Metabolite

Structure of homoarginine
Metabolite Accession: GCST90199675
Name: homoarginine
Hmdb Id: HMDB0000670
Super Pathway: NA
Sub Pathway: NA
Inchikey: QUOGESRFPZDMMT

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):
0.493
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
20.398
Reference Allele:
C
-log10(P):
-211.279
MAF:
0.316
Beta (Num):
0.226
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.267
SE (Den):
0.015
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Valine, isoleucine, and fatty acid catabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Urea cycle, Lysine degradation.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio may reflect a shift in nitrogen metabolism, where decreased urea cycle function (homoarginine) could coincide with altered branched-chain amino acid breakdown (isobutyrylglycine).

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 missense variant likely impairs the urea cycle, leading to reduced homoarginine synthesis and contributing to hyperammonemia-related phenotypes like renal failure and cholelithiasis.1[1], 2[2], 9[3], 10[4] The accumulation of isobutyrylglycine may indicate secondary effects on branched-chain amino acid metabolism.4[5]

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