n-acetylputrescine to 1-ribosyl-imidazoleacetate*

Numerator Metabolite

Structure of n-acetylputrescine
Metabolite Accession: GCST90200351
Name: n-acetylputrescine
Hmdb Id: HMDB0002064
Super Pathway: NA
Sub Pathway: NA
Inchikey: KLZGKIDSEJWEDW

Denominator Metabolite

Structure of 1-ribosyl-imidazoleacetate*
Metabolite Accession: GCST90199815
Name: 1-ribosyl-imidazoleacetate*
Hmdb Id: HMDB0002331
Super Pathway: NA
Sub Pathway: NA
Inchikey: AHPWEWASPTZMEK

Associated Genomic Regions

Region: rs715

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):
0.159
Position:
211543055
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
7.913
Reference Allele:
T
-log10(P):
-33.615
MAF:
0.307
Beta (Num):
0.072
Novel Locus:
Yes ✔️
SE (Num):
0.016
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:

Polyamine metabolism, GABA synthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Imidazoleacetate ribosylation.6[1], 7[2]

Ratio Explanation:

none

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

The *CPS1* gene variant likely impairs urea cycle function, affecting nitrogen metabolism, which is linked to kidney disease and gallstones through mechanisms that are not fully understood.

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