isovalerylglycine to asparagine

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 asparagine
Metabolite Accession: GCST90200452
Name: asparagine
Hmdb Id: HMDB0000168
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCXYFEDJOCDNAF

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):
0.306
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
13.938
Reference Allele:
C
-log10(P):
-99.999
MAF:
0.314
Beta (Num):
0.219
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.087
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism, fatty acid metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Amino acid metabolism, urea cycle.8[1], 9[2]

Ratio Explanation:

A higher ratio may suggest increased leucine breakdown or impaired urea cycle function, as CPS1 dysfunction can affect nitrogen metabolism, potentially altering amino acid pools.4[1], 6[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function due to genetic variation can impair the urea cycle, leading to nitrogen imbalance and affecting kidney function and the processing of various compounds, which may contribute to renal failure and cholelithiasis risk.10[1], 11[2], 12[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