glycocholenate sulfate* to 1-ribosyl-imidazoleacetate*

Numerator Metabolite

Structure of glycocholenate sulfate*
Metabolite Accession: GCST90199841
Name: glycocholenate sulfate*
Hmdb Id: HMDB0242178
Super Pathway: NA
Sub Pathway: NA
Inchikey: OTUHTIDAACSDJD

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: 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):
0.179
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
7.892
Reference Allele:
C
-log10(P):
-33.449
MAF:
0.310
Beta (Num):
0.092
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.087
SE (Den):
0.015
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Bile acid biosynthesis

Denominator Metabolite Explanation:

Histidine metabolism

Ratio Explanation:

This ratio may reflect altered nitrogen and bile acid metabolism due to impaired CPS1 function, where excess nitrogen metabolites are elevated alongside dysregulated bile acids.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Defective CPS1 impairs nitrogen clearance, causing hyperammonemia, which contributes to renal dysfunction.5[1], 6[2], 7[3] Concurrently, altered CPS1 function is associated with cholelithiasis, potentially through its release in bile and influence on liver health, linking the gene to both renal and gallbladder phenotypes.8[4], 9[5], 10[6], 11[7]

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