carboxyethyl-gaba to n-acetylkynurenine (2)

Numerator Metabolite

Structure of carboxyethyl-gaba
Metabolite Accession: GCST90199918
Name: carboxyethyl-gaba
Hmdb Id: HMDB0002201
Super Pathway: NA
Sub Pathway: NA
Inchikey: SRGQUICKDUQCKO

Denominator Metabolite

Structure of n-acetylkynurenine (2)
Metabolite Accession: GCST90200015
Name: n-acetylkynurenine (2)
Hmdb Id: HMDB0240342
Super Pathway: NA
Sub Pathway: NA
Inchikey: PPIMFXHQDQRWGJ

Associated Genomic Regions

Region: rs1165152

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):
0.266
Position:
25818766
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
11.409
Reference Allele:
G
-log10(P):
-67.752
MAF:
0.445
Beta (Num):
0.137
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.129
SE (Den):
0.017
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Polyamine metabolism, GABA metabolism.7[1], 8[2], 9[3], 10[4]

Denominator Metabolite Explanation:

Tryptophan metabolism, Kynurenine pathway.11[1], 12[2], 13[3]

Ratio Explanation:

A higher ratio may suggest altered transporter function by SLC17A4, potentially affecting the balance of organic anions like urate and various amino acid derivatives.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The SLC17A4 gene's primary function as a urate transporter directly explains its association with uric acid levels and related phenotypes like MCHC and hemoglobin.4[1], 14[2], 15[3], 16[4] Altered SLC17A4 function likely impacts urate homeostasis, which can influence red blood cell indices.17[5], 16[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