n-acetylglucosaminylasparagine to 5-methylthioadenosine (mta)

Numerator Metabolite

Structure of n-acetylglucosaminylasparagine
Metabolite Accession: GCST90200316
Name: n-acetylglucosaminylasparagine
Hmdb Id: HMDB0000489
Super Pathway: NA
Sub Pathway: NA
Inchikey: YTTRPBWEMMPYSW

Denominator Metabolite

Structure of 5-methylthioadenosine (mta)
Metabolite Accession: GCST90200359
Name: 5-methylthioadenosine (mta)
Hmdb Id: HMDB0001173
Super Pathway: NA
Sub Pathway: NA
Inchikey: WUUGFSXJNOTRMR

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
0.173
Position:
211540507
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
8.854
Reference Allele:
C
-log10(P):
-41.617
MAF:
0.310
Beta (Num):
0.067
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.107
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
5.0
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Glycoprotein degradation, Aminosugar metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Methionine salvage pathway, Polyamine biosynthesis.6[1], 7[2], 8[3]

Ratio Explanation:

An increase in this ratio could reflect decreased CPS1 activity, though a direct link between CPS1 and these metabolites is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Reduced CPS1 function, suggested by the missense variant, may contribute to cholelithiasis and renal dysfunction, possibly through systemic metabolic stress and altered nitrogen metabolism.

Phenotype Driver:

Gene-centric:CPS1

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