myristoylcarnitine (c14) to pentadecanoate (15:0)

Numerator Metabolite

Structure of myristoylcarnitine (c14)
Metabolite Accession: GCST90199730
Name: myristoylcarnitine (c14)
Hmdb Id: HMDB000506
Super Pathway: NA
Sub Pathway: NA
Inchikey: PSHXNVGSVNEJBD

Denominator Metabolite

Structure of pentadecanoate (15:0)
Metabolite Accession: GCST90200457
Name: pentadecanoate (15:0)
Hmdb Id: HMDB0000826
Super Pathway: NA
Sub Pathway: NA
Inchikey: WQEPLUUGTLDZJY

Associated Genomic Regions

Region: rs273917

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:
5
Beta (Ratio):
0.151
Position:
131659618
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
9.925
Reference Allele:
G
-log10(P):
-51.783
MAF:
0.295
Beta (Num):
0.116
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.035
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 SLC22A5 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation; Carnitine shuttle.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid metabolism.7[1], 8[2]

Ratio Explanation:

This ratio reflects carnitine-dependent fatty acid transport. SLC22A5 mediates carnitine uptake, which is required for the formation of myristoylcarnitine from its corresponding fatty acid.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered SLC22A5 function, suggested by the ratio, likely impairs carnitine transport and fatty acid oxidation in hematopoietic cells.9[1], 10[2] This impairment can affect cell production and function, leading to the observed variations in blood cell counts, which are associated phenotypes.9[3]

Phenotype Driver:

Gene-centric:SLC22A5

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