isobutyrylcarnitine (c4) to isobutyrylglycine

Numerator Metabolite

Structure of isobutyrylcarnitine (c4)
Metabolite Accession: GCST90199698
Name: isobutyrylcarnitine (c4)
Hmdb Id: HMDB0000736
Super Pathway: NA
Sub Pathway: NA
Inchikey: LRCNOZRCYBNMEP

Denominator Metabolite

Structure of isobutyrylglycine
Metabolite Accession: GCST90199798
Name: isobutyrylglycine
Hmdb Id: HMDB0000730
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCICDMMXFIELDF

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):
-0.257
Position:
211540507
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-14.868
Reference Allele:
C
-log10(P):
-113.452
MAF:
0.309
Beta (Num):
-0.031
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.226
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Valine catabolism, Fatty acid metabolism5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Valine catabolism, Fatty acid detoxification8[1], 9[2], 10[3]

Ratio Explanation:

The ratio of isobutyrylcarnitine to isobutyrylglycine may reflect the efficiency of valine catabolism and fatty acid metabolism.8[1], 7[2], 5[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 dysfunction can lead to hyperammonemia, and is associated with secondary carnitine deficiency.11[1] The associated phenotypes of cholelithiasis and renal failure could be linked to broader metabolic dysregulation, including altered nitrogen and lipid metabolism influenced by CPS1 activity.12[2], 4[3]

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