n-acetylleucine to hydroxy-cmpf*

Numerator Metabolite

Structure of n-acetylleucine
Metabolite Accession: GCST90200288
Name: n-acetylleucine
Hmdb Id: HMDB0011756
Super Pathway: NA
Sub Pathway: NA
Inchikey: WXNXCEHXYPACJF

Denominator Metabolite

Metabolite Accession: GCST90200154
Name: hydroxy-cmpf*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1177442

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.200
Position:
25809069
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-9.233
Reference Allele:
G
-log10(P):
-45.086
MAF:
0.444
Beta (Num):
-0.090
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.110
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Leucine metabolism, N-terminal protein acetylation/degradation.10[1], 11[2], 12[3], 13[4]

Denominator Metabolite Explanation:

Furan fatty acid metabolism, uremic toxin pathway.14[1], 15[2], 16[3]

Ratio Explanation:

A variant in the SLC17A4 transporter could alter the cellular transport of N-acetylleucine and hydroxy-CMPF, affecting their relative levels.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The SLC17A4 gene, a known urate and organic anion transporter, is linked to uric acid levels.6[1], 8[2], 17[3], 9[4] Altered SLC17A4 function likely affects urate transport, directly influencing the uric acid phenotype, and may also impact the transport of other organic anions, contributing to hematological and renal phenotypes.

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