taurocholenate sulfate* to glycosyl-n-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2oh))*

Numerator Metabolite

Structure of taurocholenate sulfate*
Metabolite Accession: GCST90199839
Name: taurocholenate sulfate*
Hmdb Id: HMDB0241922
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZYJZBFYRVKLOAA

Denominator Metabolite

Metabolite Accession: GCST90200117
Name: glycosyl-n-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2oh))*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1047891

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
2
Beta (Ratio):
-0.206
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-9.113
Reference Allele:
C
-log10(P):
-43.971
MAF:
0.310
Beta (Num):
-0.098
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.108
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:

Bile acid metabolism

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Ratio Explanation:

The ratio likely reflects disrupted liver mitochondrial function, where CPS1 impairment alters nitrogen metabolism, indirectly affecting unrelated bile acid and sphingolipid pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function due to genetic variation is a primary driver of liver and kidney dysfunction.6[1], 7[2] The altered metabolite ratio is likely a downstream biomarker of this hepatic disruption, which is phenotypically linked to cholelithiasis and chronic kidney disease.8[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