5-acetylamino-6-amino-3-methyluracil to 1-methylxanthine

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 1-methylxanthine
Metabolite Accession: GCST90199763
Name: 1-methylxanthine
Hmdb Id: HMDB0010738
Super Pathway: NA
Sub Pathway: NA
Inchikey: MVOYJPOZRLFTCP

Associated Genomic Regions

Region: rs2047251

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
8
Beta (Ratio):
-0.126
Position:
18237720
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
-9.658
Reference Allele:
C
-log10(P):
-49.142
MAF:
0.349
Beta (Num):
-0.095
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.031
SE (Den):
0.017
No CNV overlap
rQTL cluster:
85
Reaction Distance:
NA
Closest Genes:
NAT2 PSD3 NAT1 ASAH1 PCM1

Region: rs13277738

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
8
Beta (Ratio):
0.680
Position:
18241507
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
40.136
Reference Allele:
C
-log10(P):
-809.352
MAF:
0.148
Beta (Num):
0.351
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.329
SE (Den):
0.022
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]

Denominator Metabolite Explanation:

Caffeine metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio of 5-acetylamino-6-amino-3-methyluracil to 1-methylxanthine reflects the activity of N-acetyltransferase enzymes on caffeine metabolites, comparing two downstream metabolic routes.9[1], 10[2], 5[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in NAT1 alters its acetylator activity, reflected by the caffeine metabolite ratio.11[1], 12[2], 13[3] This same variation modifies the metabolism of arylamine carcinogens, a known risk mechanism for malignant neoplasms of the bladder.14[4], 15[5], 12[6]

Phenotype Driver:

Gene-centric:[NAT1]

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