isovalerylglycine to kynurenate

Numerator Metabolite

Structure of isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

Denominator Metabolite

Structure of kynurenate
Metabolite Accession: GCST90200454
Name: kynurenate
Hmdb Id: HMDB0000715
Super Pathway: NA
Sub Pathway: NA
Inchikey: HCZHHEIFKROPDY

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):
0.299
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
13.804
Reference Allele:
C
-log10(P):
-98.129
MAF:
0.314
Beta (Num):
0.219
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.079
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism6[1], 7[2]

Denominator Metabolite Explanation:

Tryptophan catabolism8[1], 9[2], 10[3]

Ratio Explanation:

The ratio of isovalerylglycine (from leucine breakdown) to kynurenate (from tryptophan breakdown) may reflect broad amino acid dysregulation under conditions of mitochondrial stress.11[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A CPS1 variant may impair the urea cycle, leading to systemic metabolic stress and hyperammonemia, which can contribute to renal failure due to nitrogen load and cholelithiasis, a known metabolic complication.12[1], 13[2], 14[3]

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