n-acetyl-2-aminoadipate to n-acetyl-1-methylhistidine*

Numerator Metabolite

Structure of n-acetyl-2-aminoadipate
Metabolite Accession: GCST90200268
Name: n-acetyl-2-aminoadipate
Hmdb Id: HMDB0062715
Super Pathway: NA
Sub Pathway: NA
Inchikey: FTTGAAZKBNZDCZ

Denominator Metabolite

Structure of n-acetyl-1-methylhistidine*
Metabolite Accession: GCST90200690
Name: n-acetyl-1-methylhistidine*
Hmdb Id: HMDB0240340
Super Pathway: NA
Sub Pathway: NA
Inchikey: GVRCKHXHWSYDEF

Associated Genomic Regions

Region: rs1165150

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):
0.148
Position:
25842032
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
7.773
Reference Allele:
T
-log10(P):
-32.502
MAF:
0.467
Beta (Num):
0.070
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.079
SE (Den):
0.016
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A3 SLC17A1 SLC17A4 SLC17A2 HIST1H2BA

LLM Analysis

Numerator Metabolite Explanation:

Lysine degradation pathway.8[1], 9[2]

Denominator Metabolite Explanation:

Histidine metabolism.10[1], 11[2]

Ratio Explanation:

The ratio likely reflects altered transport activity by SLC17A4 affecting the balance of unrelated acetylated amino acids, with no direct biochemical pathway linking them.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

The SLC17A4 missense variant likely alters its transport function, leading to downstream effects on serum creatinine, uric acid, and various hematological parameters like hemoglobin and hematocrit, which are interconnected through renal function and overall metabolic homeostasis.1[1], 12[2], 13[3], 14[4]

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