sphingomyelin (d18:2/23:1)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:2/23:1)*
Metabolite Accession: GCST90200126
Name: sphingomyelin (d18:2/23:1)*
Hmdb Id: HMDB0240668
Super Pathway: NA
Sub Pathway: NA
Inchikey: PUTLJICFLAOKRD

Denominator Metabolite

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1466448

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:
19
Beta (Ratio):
0.140
Position:
8289519
SE (Ratio):
0.010
Effect Allele:
C
Z-score (Ratio):
13.649
Reference Allele:
A
-log10(P):
-95.997
MAF:
0.191
Beta (Num):
0.058
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.081
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis.4[1], 5[2], 6[3]

Ratio Explanation:

This ratio may reflect CERS4 activity, where higher values suggest a preference for synthesizing ceramides with C23:1 over C21:0 or C23:0 fatty acids.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

No direct ratio-phenotype link is established in the provided data, however, CERS4 is involved in maintaining skin barrier function and hair follicle homeostasis.7[1], 8[2]

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