myristoylcarnitine (c14) to myristate (14:0)

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 myristate (14:0)
Metabolite Accession: GCST90200414
Name: myristate (14:0)
Hmdb Id: HMDB0000806
Super Pathway: NA
Sub Pathway: NA
Inchikey: TUNFSRHWOTWDNC

Associated Genomic Regions

Region: rs270614

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):
0.152
Position:
131640813
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
10.493
Reference Allele:
A
-log10(P):
-57.633
MAF:
0.293
Beta (Num):
0.117
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 PDLIM4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Carnitine shuttle.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, Protein kinase C signaling.6[1]

Ratio Explanation:

The ratio of myristoylcarnitine to myristate reflects the rate of carnitine-dependent fatty acid transport into mitochondria, which is facilitated by the SLC22A5 gene product.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 function can lead to carnitine deficiency, impairing fatty acid oxidation and potentially altering hematopoietic cell counts and other associated phenotypes like height and bilirubin levels.7[1], 8[2]

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