5-acetylamino-6-amino-3-methyluracil to quinate

Numerator Metabolite

Structure of 5-acetylamino-6-amino-3-methyluracil
Metabolite Accession: GCST90199760
Name: 5-acetylamino-6-amino-3-methyluracil
Hmdb Id: HMDB0004400
Super Pathway: NA
Sub Pathway: NA
Inchikey: POQOTWQIYYNXAT

Denominator Metabolite

Structure of quinate
Metabolite Accession: GCST90199645
Name: quinate
Hmdb Id: HMDB0003072
Super Pathway: NA
Sub Pathway: NA
Inchikey: AAWZDTNXLSGCEK

Associated Genomic Regions

Region: rs1495741

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:
8
Beta (Ratio):
0.393
Position:
18272881
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
22.413
Reference Allele:
A
-log10(P):
-254.499
MAF:
0.226
Beta (Num):
0.384
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.009
SE (Den):
0.018
No CNV overlap
rQTL cluster:
85
Reaction Distance:
NA
Closest Genes:
NAT2 PSD3 NAT1 ASAH1 PCM1

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Shikimate pathway, quinate catabolism.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio may reflect NAT2 enzyme activity, where 5-acetylamino-6-amino-3-methyluracil is a caffeine metabolite, versus quinate from the shikimate pathway.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The NAT2 gene influences the metabolism of 5-acetylamino-6-amino-3-methyluracil.4[1] Altered NAT2 activity is associated with bladder cancer risk, and lower levels of a related metabolite are linked to bladder cancer.10[2], 11[3], 12[4], 13[5] The ratio may therefore connect genetic predisposition with cancer phenotype through altered xenobiotic metabolism.

Phenotype Driver:

Gene-centric:NAT2

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