serine to asparagine

Numerator Metabolite

Structure of serine
Metabolite Accession: GCST90200415
Name: serine
Hmdb Id: HMDB0000187
Super Pathway: NA
Sub Pathway: NA
Inchikey: MTCFGRXMJLQNBG

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: 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):
0.292
Position:
211540507
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
17.632
Reference Allele:
C
-log10(P):
-158.546
MAF:
0.310
Beta (Num):
0.205
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.087
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:

Glycolysis, one-carbon metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Aspartate and glutamine metabolism.8[1], 9[2]

Ratio Explanation:

Elevated serine to asparagine ratio may reflect impaired nitrogen disposal via the urea cycle (CPS1) and alterations in amino acid interconversion.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can impair ammonia detoxification, leading to metabolic disturbances, including altered amino acid levels, which are associated with cholelithiasis and kidney dysfunction.3[1], 5[2], 10[3], 11[4]

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