n-acetylglutamine to n-acetylcitrulline

Numerator Metabolite

Structure of n-acetylglutamine
Metabolite Accession: GCST90200676
Name: n-acetylglutamine
Hmdb Id: HMDB0006029
Super Pathway: NA
Sub Pathway: NA
Inchikey: KSMRODHGGIIXDV

Denominator Metabolite

Structure of n-acetylcitrulline
Metabolite Accession: GCST90200683
Name: n-acetylcitrulline
Hmdb Id: HMDB0000856
Super Pathway: NA
Sub Pathway: NA
Inchikey: WMQMIOYQXNRROC

Associated Genomic Regions

Region: rs1043011

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:
12
Beta (Ratio):
-0.148
Position:
56865040
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-7.495
Reference Allele:
G
-log10(P):
-30.343
MAF:
0.194
Beta (Num):
-0.077
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
0.071
SE (Den):
0.020
No CNV overlap
rQTL cluster:
51
Reaction Distance:
NA
Closest Genes:
GLS2 SPRYD4 MIP TIMELESS RBMS2

LLM Analysis

Numerator Metabolite Explanation:

Arginine biosynthesis, Glutamine metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Arginine biosynthesis, Urea cycle.5[1], 6[2]

Ratio Explanation:

An elevated n-acetylglutamine to n-acetylcitrulline ratio may indicate altered glutamine metabolism relative to the urea cycle, potentially influenced by GLS2 activity.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The missense variant in GLS2 may alter its function, impacting glutamine metabolism. This could influence the n-acetylglutamine to n-acetylcitrulline ratio, potentially affecting the urea cycle and nitrogen balance, which is reflected in the association with blood urea nitrogen levels.7[1]

Phenotype Driver:

Gene-centric:GLS2

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