carboxyethyl-gaba to n-acetylphenylalanine

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

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):
0.284
Position:
25818766
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
13.562
Reference Allele:
G
-log10(P):
-94.808
MAF:
0.445
Beta (Num):
0.137
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.147
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:

Polyamine and GABA metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Phenylalanine metabolism.7[1], 8[2]

Ratio Explanation:

The ratio may reflect altered transport by SLC17A4, which influences the levels of various organic anions, potentially linking disparate metabolic pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The SLC17A4 gene's function as a transporter of urate and other anions provides a link to the observed phenotypes of altered mean corpuscular hemoglobin concentration, MCH, MCV, hemoglobin, and serum creatinine and uric acid levels, possibly through effects on erythropoiesis and renal function.9[1], 2[2], 10[3], 11[4], 12[5]

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