isobutyrylglycine to glutarylcarnitine (c5-dc)

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 glutarylcarnitine (c5-dc)
Metabolite Accession: GCST90199799
Name: glutarylcarnitine (c5-dc)
Hmdb Id: HMDB0013130
Super Pathway: NA
Sub Pathway: NA
Inchikey: NXJAXUYOQLTISD

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):
0.328
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
14.149
Reference Allele:
C
-log10(P):
-102.979
MAF:
0.316
Beta (Num):
0.226
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.102
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:

Valine catabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Lysine and tryptophan catabolism.8[1], 9[2]

Ratio Explanation:

The ratio likely reflects disrupted amino acid breakdown and nitrogen metabolism due to impaired urea cycle function caused by CPS1 variants affecting both metabolites.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function disrupts the urea cycle, leading to systemic metabolic stress and hyperammonemia, which contributes to the risk of cholelithiasis and chronic kidney disease.10[1], 11[2]

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