glycocholenate sulfate* to glutarylcarnitine (c5-dc)

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 glutarylcarnitine (c5-dc)
Metabolite Accession: GCST90199799
Name: glutarylcarnitine (c5-dc)
Hmdb Id: HMDB0013130
Super Pathway: NA
Sub Pathway: NA
Inchikey: NXJAXUYOQLTISD

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):
0.194
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
8.364
Reference Allele:
C
-log10(P):
-37.339
MAF:
0.310
Beta (Num):
0.092
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.102
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 biosynthesis.7[1]

Denominator Metabolite Explanation:

Amino acid (lysine, tryptophan) metabolism.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

An elevated ratio may reflect impaired liver function, affecting both amino acid catabolism (denominator) and bile acid synthesis (numerator), potentially influenced by CPS1 activity.3[1], 8[2], 7[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function disrupts liver-centric nitrogen and bile acid metabolism. This dysfunction can causally contribute to cholelithiasis (gallstones) and renal stress by altering nitrogenous waste handling and bile composition, consistent with observed phenotypes.7[1], 12[2], 13[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