glutamine conjugate of c6h10o2 (1)* to octanoylcarnitine (c8)

Numerator Metabolite

Metabolite Accession: GCST90200176
Name: glutamine conjugate of c6h10o2 (1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of octanoylcarnitine (c8)
Metabolite Accession: GCST90199720
Name: octanoylcarnitine (c8)
Hmdb Id: HMDB0000791
Super Pathway: NA
Sub Pathway: NA
Inchikey: CXTATJFJDMJMIY

Associated Genomic Regions

Region: rs2185152

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:
1
Beta (Ratio):
0.524
Position:
76224010
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
26.959
Reference Allele:
C
-log10(P):
-366.927
MAF:
0.311
Beta (Num):
0.134
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.391
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid detoxification

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

Reduced ACADM function increases octanoylcarnitine and upstream fatty acid glutamine conjugates, reflecting impaired beta-oxidation and activation of a detoxification pathway.4[1], 5[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

No phenotype association was provided in the input data to establish a causal link with the ACADM gene and the resulting metabolic ratio.

Phenotype Driver:

none

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