sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

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):
0.129
Position:
8289519
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
9.312
Reference Allele:
A
-log10(P):
-45.821
MAF:
0.192
Beta (Num):
0.047
Novel Locus:
Yes ✔️
SE (Num):
0.018
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:

Sphingomyelin synthesis

Denominator Metabolite Explanation:

Sphingomyelin synthesis

Ratio Explanation:

The ratio reflects CERS4's substrate specificity for incorporating different very-long-chain fatty acids (VLCFAs) into the ceramide backbone of sphingomyelins.3[1], 4[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No associated phenotype is provided, thus a causal link between the CERS4 gene, the specific sphingomyelin ratio, and a phenotype cannot be established.

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