beta-hydroxyisovalerate to pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)

Numerator Metabolite

Metabolite Accession: GCST90200322
Name: beta-hydroxyisovalerate
Hmdb Id: HMDB0000754
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Metabolite Accession: GCST90200101
Name: pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Hmdb Id: HMDB0013328
Super Pathway: NA
Sub Pathway: NA
Inchikey: NTBUXPPQHCFLOM

Associated Genomic Regions

Region: rs10888445

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:
1
Beta (Ratio):
-0.210
Position:
151841770
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-9.556
Reference Allele:
T
-log10(P):
-48.148
MAF:
0.394
Beta (Num):
-0.111
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.099
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC LINGO4

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, dicarboxylate fatty acid metabolism.5[1], 6[2], 7[3]

Ratio Explanation:

The ratio may reflect alterations in mitochondrial fatty acid and branched-chain amino acid metabolism, potentially influenced by THEM4's thioesterase activity on acyl-CoA substrates.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

No associated phenotype was provided, so a link between the ratio and a phenotype cannot be established.

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