sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)* to sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)

Numerator Metabolite

Structure of sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Metabolite Accession: GCST90200017
Name: sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: LQINJRUGTUOHGS

Denominator Metabolite

Metabolite Accession: GCST90200047
Name: sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs2336168

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):
0.130
Position:
8288542
SE (Ratio):
0.012
Effect Allele:
C
Z-score (Ratio):
10.919
Reference Allele:
T
-log10(P):
-62.238
MAF:
0.197
Beta (Num):
0.063
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.067
SE (Den):
0.019
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin biosynthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Sphingomyelin biosynthesis.3[1], 4[2], 5[3]

Ratio Explanation:

This ratio likely reflects altered CERS4 activity, impacting the balance of different chain length sphingomyelin species derived from its ceramide products.6[1], 1[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4's role in synthesizing specific ceramide precursors directly influences the abundance of corresponding sphingomyelin species, but no associated phenotype is provided.

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