isobutyrylglycine to n-acetylthreonine

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 n-acetylthreonine
Metabolite Accession: GCST90199726
Name: n-acetylthreonine
Hmdb Id: HMDB0062557
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEDXUVCGOLSNLQ

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):
0.313
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
14.315
Reference Allele:
C
-log10(P):
-105.348
MAF:
0.316
Beta (Num):
0.226
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.087
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.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Threonine metabolism.7[1], 8[2]

Ratio Explanation:

The ratio likely reflects global dysregulation of amino acid metabolism secondary to urea cycle dysfunction from CPS1 variants, rather than a direct enzymatic relationship.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in *CPS1* impair ammonia detoxification via the urea cycle, leading to hyperammonemia which is toxic to the nervous system and can cause renal dysfunction.9[1], 10[2], 11[3], 12[4] Cholelithiasis may be linked to systemic metabolic disturbances from CPS1 dysfunction.13[5] The ratio may be a biomarker for this state.

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