3-carboxy-4-methyl-5-propyl-2-furanpropanoate (cmpf) to n-acetylphenylalanine

Numerator Metabolite

Structure of 3-carboxy-4-methyl-5-propyl-2-furanpropanoate (cmpf)
Metabolite Accession: GCST90199712
Name: 3-carboxy-4-methyl-5-propyl-2-furanpropanoate (cmpf)
Hmdb Id: HMDB0061112
Super Pathway: NA
Sub Pathway: NA
Inchikey: WMCQWXZMVIETAO

Denominator Metabolite

Structure of n-acetylphenylalanine
Metabolite Accession: GCST90200677
Name: n-acetylphenylalanine
Hmdb Id: HMDB0000512
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBQJSKKFNMDLON

Associated Genomic Regions

Region: rs2328895

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:
6
Beta (Ratio):
0.250
Position:
25802083
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
11.833
Reference Allele:
T
-log10(P):
-72.711
MAF:
0.445
Beta (Num):
0.102
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.148
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A4 SLC17A3 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Furanoid fatty acid metabolism, uremic toxin pathway.6[1], 7[2]

Denominator Metabolite Explanation:

Phenylalanine metabolism, N-acyl-alpha amino acid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

An elevated ratio of CMPF to N-acetylphenylalanine may reflect impaired clearance of the uremic toxin CMPF by the SLC17A4 transporter.1[1], 7[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A dysfunctional SLC17A4 transporter likely impairs clearance of CMPF, a uremic toxin, and urate.1[1], 2[2], 3[3], 7[4] This could lead to increased serum creatinine and uric acid, and downstream effects on hematological parameters due to CMPF-induced eryptosis and overall uremic toxicity.6[5], 11[6]

Phenotype Driver:

Gene-centric:SLC17A4

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