isovalerylcarnitine (c5) to valine

Numerator Metabolite

Structure of isovalerylcarnitine (c5)
Metabolite Accession: GCST90199747
Name: isovalerylcarnitine (c5)
Hmdb Id: HMDB0000688
Super Pathway: NA
Sub Pathway: NA
Inchikey: IGQBPDJNUXPEMT

Denominator Metabolite

Structure of valine
Metabolite Accession: GCST90200442
Name: valine
Hmdb Id: HMDB0000883
Super Pathway: NA
Sub Pathway: NA
Inchikey: KZSNJWFQEVHDMF

Associated Genomic Regions

Region: rs273900

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:
5
Beta (Ratio):
0.202
Position:
131694606
SE (Ratio):
0.015
Effect Allele:
G
Z-score (Ratio):
13.226
Reference Allele:
A
-log10(P):
-90.274
MAF:
0.380
Beta (Num):
0.180
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.022
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Leucine degradation, Fatty acid metabolism3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Branched-chain amino acid catabolism6[1], 7[2]

Ratio Explanation:

An elevated ratio of isovalerylcarnitine to valine may indicate altered function of SLC22A4/A5, affecting the transport and metabolism of these molecules.8[1]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered SLC22A4/A5 function may influence the transport of carnitine and organic cations, potentially affecting immune cell counts and uric acid levels, which are reported phenotypes.2[1], 9[2], 10[3], 11[4], 12[5], 13[6]

Phenotype Driver:

Gene-centric:SLC22A4/SLC22A5

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