2r,3r-dihydroxybutyrate to n-palmitoylglycine

Numerator Metabolite

Structure of 2r,3r-dihydroxybutyrate
Metabolite Accession: GCST90199889
Name: 2r,3r-dihydroxybutyrate
Hmdb Id: HMDB0000498
Super Pathway: NA
Sub Pathway: NA
Inchikey: LOUGYXZSURQALL

Denominator Metabolite

Structure of n-palmitoylglycine
Metabolite Accession: GCST90199923
Name: n-palmitoylglycine
Hmdb Id: HMDB0013034
Super Pathway: NA
Sub Pathway: NA
Inchikey: KVTFEOAKFFQCCX

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):
-0.399
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
-16.502
Reference Allele:
C
-log10(P):
-139.193
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.247
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:

Isoleucine degradation, Threonine metabolism

Denominator Metabolite Explanation:

Fatty acid biosynthesis, Glycine metabolism

Ratio Explanation:

none

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 gene variants are linked to altered nitrogen metabolism and have been associated with renal dysfunction and cholelithiasis.4[1], 5[2], 6[3] Dysregulation of the urea cycle by CPS1 can impact kidney function through altered amino acid and nitrogen balance, potentially contributing to the observed renal phenotypes.4[4], 7[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