2-butenoylglycine to hexanoylglycine

Numerator Metabolite

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

Denominator Metabolite

Structure of hexanoylglycine
Metabolite Accession: GCST90199781
Name: hexanoylglycine
Hmdb Id: HMDB0000701
Super Pathway: NA
Sub Pathway: NA
Inchikey: UPCKIPHSXMXJOX

Associated Genomic Regions

Region: rs35630725;rs1890452

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:
1
Beta (Ratio):
0.404
Position:
76192508
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
18.314
Reference Allele:
G
-log10(P):
-170.830
MAF:
0.352
Beta (Num):
0.125
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.278
SE (Den):
0.019
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Beta-Oxidation

Denominator Metabolite Explanation:

Fatty Acid Beta-Oxidation

Ratio Explanation:

In ACADM deficiency, impaired beta-oxidation of medium-chain fatty acyl-CoAs, like precursors to 2-butenoylglycine and hexanoylglycine, causes their accumulation and subsequent conjugation to glycine.6[1], 7[2], 8[3], 9[4]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

none

Phenotype Driver:

none

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