branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid* to 5-dodecenoylcarnitine (c12:1)

Numerator Metabolite

Metabolite Accession: GCST90200249
Name: branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200151
Name: 5-dodecenoylcarnitine (c12:1)
Hmdb Id: HMDB13326
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs151154986

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:
14
Beta (Ratio):
-0.487
Position:
74040136
SE (Ratio):
0.037
Effect Allele:
A
Z-score (Ratio):
-12.993
Reference Allele:
G
-log10(P):
-87.212
MAF:
0.029
Beta (Num):
-0.480
Novel Locus:
No
SE (Num):
0.044
Beta (Den):
0.007
SE (Den):
0.044
No CNV overlap
rQTL cluster:
44
Reaction Distance:
NA
Closest Genes:
ACOT2 HEATR4 ACOT4 ACOT1 ACOT6

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid biosynthesis and beta-oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

The ratio may reflect the balance between the availability of 12:1 fatty acids for beta-oxidation and their subsequent transport into mitochondria via carnitine shuttle.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A missense variant in ACOT2 could alter its thioesterase activity, affecting the intracellular balance of C12:1 acyl-CoA and its corresponding acylcarnitine, thereby influencing fatty acid metabolism. No associated phenotype is provided.

Phenotype Driver:

Gene-centric:ACOT2

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