3-hydroxyhexanoylcarnitine (1) to 2-butenoylglycine

Numerator Metabolite

Structure of 3-hydroxyhexanoylcarnitine (1)
Metabolite Accession: GCST90200228
Name: 3-hydroxyhexanoylcarnitine (1)
Hmdb Id: HMDB0013131
Super Pathway: NA
Sub Pathway: NA
Inchikey: VYEONLJQPYRKAN

Denominator Metabolite

Structure of 2-butenoylglycine
Metabolite Accession: GCST90200152
Name: 2-butenoylglycine
Hmdb Id: HMDB0341232
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWJXRJJBIVSSNF

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):
-0.301
Position:
211540507
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-15.668
Reference Allele:
C
-log10(P):
-125.729
MAF:
0.310
Beta (Num):
-0.038
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.262
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation.6[1], 7[2]

Denominator Metabolite Explanation:

Fatty Acid Metabolism (Acyl Glycine).8[1]

Ratio Explanation:

none

Ratio Evidence:

Metabolites related through biology

Gene Ratio Phenotype Relationship:

A CPS1 missense variant likely impairs the urea cycle, causing hyperammonemia and subsequent renal and hepatic stress, which can manifest as renal failure and cholelithiasis.9[1], 10[2], 11[3] This primary defect can induce mitochondrial dysfunction, secondarily altering fatty acid oxidation and causing the observed ratio change.12[4], 13[5]

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