guanidinoacetate to asparagine

Numerator Metabolite

Structure of guanidinoacetate
Metabolite Accession: GCST90200384
Name: guanidinoacetate
Hmdb Id: HMDB0000128
Super Pathway: NA
Sub Pathway: NA
Inchikey: BPMFZUMJYQTVII

Denominator Metabolite

Structure of asparagine
Metabolite Accession: GCST90200452
Name: asparagine
Hmdb Id: HMDB0000168
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCXYFEDJOCDNAF

Associated Genomic Regions

Region: rs715

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):
0.172
Position:
211543055
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
7.954
Reference Allele:
T
-log10(P):
-33.947
MAF:
0.307
Beta (Num):
0.079
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.093
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
4.0
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Creatine biosynthesis5[1], 6[2]

Denominator Metabolite Explanation:

Amino acid metabolism, Urea cycle7[1], 8[2], 9[3], 10[4], 11[5]

Ratio Explanation:

An elevated ratio may suggest increased creatine synthesis (numerator) or altered urea cycle function and nitrogen metabolism (denominator) potentially influenced by CPS1 activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can impair the urea cycle, affecting nitrogen balance and potentially leading to hyperammonemia, which is linked to renal dysfunction and can influence hematological parameters.12[1], 13[2], 14[3], 15[4], 4[5] Cholelithiasis has been associated with altered CPS1 expression.16[6], 17[7]

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