branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid* to palmitoleoylcarnitine (c16:1)*
Numerator Metabolite
Metabolite Accession: GCST90200249
Name: branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA
Denominator Metabolite
Metabolite Accession: GCST90200110
Name: palmitoleoylcarnitine (c16:1)*
Hmdb Id: HMDB0240782
Super Pathway: NA
Sub Pathway: NA
Inchikey: JFAGPSOZZSTLRF
Associated Genomic Regions
Region: rs603424
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Clumped rQTL variant
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SNP Summary
Chr:
10
Beta (Ratio):
0.136
Position:
102075479
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
9.138
Reference Allele:
G
-log10(P):
-44.205
MAF:
0.176
Beta (Num):
0.006
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.130
SE (Den):
0.019
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Region: rs151154986
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Clumped rQTL variant
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SNP Summary
Chr:
14
Beta (Ratio):
-0.512
Position:
74040136
SE (Ratio):
0.033
Effect Allele:
A
Z-score (Ratio):
-15.315
Reference Allele:
G
-log10(P):
-120.232
MAF:
0.029
Beta (Num):
-0.480
Novel Locus:
No
SE (Num):
0.044
Beta (Den):
0.032
SE (Den):
0.042
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Region: rs388891
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Clumped rQTL variant
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SNP Summary
Chr:
5
Beta (Ratio):
-0.120
Position:
131700794
SE (Ratio):
0.012
Effect Allele:
C
Z-score (Ratio):
-9.669
Reference Allele:
G
-log10(P):
-49.249
MAF:
0.294
Beta (Num):
-0.028
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.092
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Missense Variants in LD (with rs388891)
eQTL Colocalization
pQTL Colocalization
| Exposure Protein | P(alpha) | P(IVW) | Coloc H4 | Coloc (SuSiE) | Plot |
|---|---|---|---|---|---|
| SMPD3 | 0.006 | 9.53e-30 | 0.991 | NA |
GTEx eQTL Colocalization
| Tissue | Exposure Gene | P(alpha) | P(IVW) | Coloc H4 | Coloc (SuSiE) | Plot |
|---|---|---|---|---|---|---|
| Heart Left Ventricle | NFATC3 | 1.10e-05 | 5.43e-21 | 0.985 | 0.969 | |
| Whole Blood | SLC7A6 | 1.54e-05 | 1.18e-13 | 0.290 | 1.000 | |
| Thyroid | PLA2G15 | 3.73e-05 | 1.89e-25 | 0.992 | 0.999 | |
| Esophagus Mucosa | PLA2G15 | 5.01e-05 | 1.89e-25 | 0.990 | 0.976 | |
| Small Intestine Terminal Ileum | NFATC3 | 5.20e-05 | NA | 0.942 | NA | |
| Esophagus Gastroesophageal Junction | PRMT7 | 6.32e-05 | 5.23e-14 | 6.04e-14 | 1.000 | |
| Artery Tibial | PRMT7 | 6.59e-05 | 1.18e-13 | 4.51e-14 | 1.000 | |
| Artery Tibial | PLA2G15 | 6.77e-05 | 1.89e-25 | 0.932 | 0.860 | |
| Esophagus Gastroesophageal Junction | NFATC3 | 1.14e-04 | 4.32e-15 | 0.005 | 1.000 | |
| Nerve Tibial | PLA2G15 | 1.31e-04 | 5.80e-30 | 0.997 | 0.994 | |
| Esophagus Muscularis | PLA2G15 | 1.36e-04 | 3.97e-23 | 0.989 | 0.978 | |
| Esophagus Muscularis | PRMT7 | 1.38e-04 | 1.37e-13 | 2.77e-14 | 1.000 | |
| Breast Mammary Tissue | PLA2G15 | 1.98e-04 | NA | 0.984 | 0.968 | |
| Brain Cortex | SMPD3 | 2.26e-04 | NA | 0.802 | NA | |
| Brain Nucleus Accumbens Basal Ganglia | NFATC3 | 2.47e-04 | NA | 0.944 | NA | |
| Colon Sigmoid | PRMT7 | 3.20e-04 | 1.37e-13 | 3.80e-14 | 1.000 | |
| Adrenal Gland | PLA2G15 | 3.28e-04 | NA | 0.991 | 0.987 | |
| Thyroid | SLC7A6 | 3.88e-04 | 1.23e-17 | 3.06e-10 | 1.000 | |
| Spleen | NFATC3 | 3.91e-04 | 6.32e-09 | 0.912 | 1.000 | |
| Heart Atrial Appendage | NFATC3 | 4.72e-04 | NA | 0.901 | NA | |
| Pituitary | NFATC3 | 4.76e-04 | 1.31e-11 | 0.705 | 0.997 | |
| Spleen | SMPD3 | 4.90e-04 | NA | 0.811 | NA | |
| Thyroid | PRMT7 | 5.29e-04 | 0.057 | 3.79e-14 | 1.000 | |
| Colon Sigmoid | NFATC3 | 5.70e-04 | 3.88e-15 | 2.62e-07 | 1.000 | |
| Nerve Tibial | NFATC3 | 6.00e-04 | 9.55e-10 | 2.10e-08 | 1.000 | |
| Colon Transverse | SLC7A6 | 6.15e-04 | 1.12e-14 | 0.897 | 1.000 | |
| Nerve Tibial | PRMT7 | 8.58e-04 | 7.58e-08 | 1.61e-14 | 1.000 | |
| Colon Transverse | NFATC3 | 8.75e-04 | 1.89e-25 | 0.961 | 1.000 | |
| Adipose Visceral Omentum | PLA2G15 | 9.65e-04 | NA | 0.992 | 0.986 | |
| Esophagus Mucosa | NFATC3 | 0.001 | 6.17e-10 | 0.840 | NA | |
| Brain Nucleus Accumbens Basal Ganglia | PRMT7 | 0.001 | 2.20e-13 | 2.61e-05 | 1.000 | |
| Adipose Subcutaneous | PLA2G15 | 0.001 | NA | 0.948 | NA | |
| Artery Coronary | PLA2G15 | 0.002 | NA | 0.890 | NA | |
| Thyroid | SLC7A6OS | 0.002 | NA | 0.886 | NA | |
| Esophagus Muscularis | NFATC3 | 0.002 | 9.55e-10 | 0.007 | 1.000 | |
| Artery Coronary | PRMT7 | 0.002 | 7.58e-08 | 3.39e-09 | 1.000 | |
| Whole Blood | NFATC3 | 0.003 | 5.43e-21 | 0.297 | 0.999 | |
| Brain Caudate Basal Ganglia | NFATC3 | 0.003 | NA | 0.835 | NA | |
| Heart Left Ventricle | PLA2G15 | 0.003 | NA | 0.872 | NA | |
| Pancreas | PRMT7 | 0.003 | 1.12e-14 | 5.19e-13 | 1.000 | |
| Nerve Tibial | SLC7A6 | 0.003 | 6.23e-11 | 0.950 | 0.996 | |
| Adipose Visceral Omentum | NFATC3 | 0.003 | 9.55e-10 | 0.314 | 0.993 | |
| Colon Transverse | PRMT7 | 0.003 | 1.37e-13 | 3.79e-14 | 1.000 | |
| Stomach | PRMT7 | 0.003 | 1.37e-13 | 6.77e-14 | 1.000 | |
| Skin Not Sun Exposed Suprapubic | PRMT7 | 0.003 | 5.23e-14 | 5.52e-14 | 1.000 | |
| Esophagus Mucosa | PRMT7 | 0.003 | 6.79e-13 | 2.02e-14 | 1.000 | |
| Adipose Subcutaneous | PRMT7 | 0.003 | 7.58e-08 | 1.89e-14 | 1.000 | |
| Lung | SLC7A6 | 0.003 | 3.88e-15 | 6.55e-04 | 1.000 | |
| Pancreas | NFATC3 | 0.004 | NA | 0.969 | 0.954 | |
| Breast Mammary Tissue | NFATC3 | 0.004 | 2.20e-13 | 0.927 | 0.998 | |
| Muscle Skeletal | SLC7A6 | 0.005 | NA | 0.976 | NA | |
| Spleen | PRMT7 | 0.005 | 1.37e-13 | 2.19e-11 | 1.000 | |
| Brain Cortex | PRMT7 | 0.006 | 7.58e-08 | 9.27e-08 | 1.000 | |
| Breast Mammary Tissue | PRMT7 | 0.006 | 5.23e-14 | 2.26e-11 | 1.000 | |
| Lung | NFATC3 | 0.006 | 1.31e-11 | 0.002 | 1.000 | |
| Heart Atrial Appendage | PLA2G15 | 0.007 | NA | 0.955 | NA | |
| Skin Sun Exposed Lower Leg | PRMT7 | 0.007 | 5.23e-14 | 9.53e-14 | 1.000 | |
| Lung | PRMT7 | 0.008 | 0.749 | 7.88e-17 | 1.000 | |
| Brain Cerebellum | NFATC3 | 0.008 | 5.43e-21 | 0.984 | 0.977 | |
| Skin Not Sun Exposed Suprapubic | NFATC3 | 0.008 | 6.17e-10 | 0.009 | 1.000 | |
| Liver | PRMT7 | 0.009 | 1.37e-13 | 1.77e-09 | 1.000 | |
| Skin Sun Exposed Lower Leg | PLA2G15 | 0.013 | 7.27e-12 | 5.24e-05 | 1.000 | |
| Thyroid | NFATC3 | 0.015 | 6.32e-09 | 4.81e-09 | 1.000 | |
| Adipose Visceral Omentum | PRMT7 | 0.015 | 1.37e-13 | 5.01e-14 | 1.000 | |
| Artery Aorta | PRMT7 | 0.016 | 7.58e-08 | 1.15e-17 | 1.000 | |
| Pituitary | PRMT7 | 0.018 | 1.12e-14 | 8.78e-07 | 1.000 | |
| Adipose Subcutaneous | NFATC3 | 0.019 | 9.55e-10 | 2.47e-05 | 1.000 | |
| Skin Sun Exposed Lower Leg | NFATC3 | 0.019 | 6.32e-09 | 0.990 | 0.172 | |
| Brain Caudate Basal Ganglia | PRMT7 | 0.031 | 2.31e-14 | 4.24e-06 | 1.000 | |
| Testis | PLA2G15 | 0.040 | 1.18e-13 | 0.004 | 0.998 | |
| Artery Tibial | NFATC3 | 0.044 | 0.359 | 1.01e-15 | 1.000 | |
| Whole Blood | PRMT7 | 0.045 | 0.670 | 1.27e-13 | 1.000 | |
| Small Intestine Terminal Ileum | PRMT7 | 0.051 | 1.37e-13 | 2.58e-07 | 1.000 | |
| Vagina | PRMT7 | 0.052 | 2.20e-13 | 0.015 | 1.000 | |
| Brain Cerebellum | PRMT7 | 0.057 | 0.262 | 1.13e-05 | 0.996 | |
| Prostate | PRMT7 | 0.058 | 5.23e-14 | 4.47e-09 | 1.000 | |
| Artery Aorta | NFATC3 | 0.070 | 0.308 | 6.89e-08 | 0.999 | |
| Muscle Skeletal | PRMT7 | 0.078 | 6.81e-15 | 2.20e-12 | 1.000 | |
| Brain Cerebellar Hemisphere | PRMT7 | 0.165 | 0.255 | 8.71e-06 | 0.998 | |
| Brain Frontal Cortex Ba9 | PRMT7 | 0.210 | 0.316 | 1.95e-04 | 0.999 | |
| Whole Blood | DUS2 | 0.327 | 0.316 | 9.89e-24 | 1.000 |
LLM Analysis
Numerator Metabolite Explanation:
Denominator Metabolite Explanation:
Ratio Explanation:
The ratio reflects ACOT2 activity, which influences the partitioning of acyl-CoAs between hydrolysis to free fatty acids (numerator) and conjugation for mitochondrial oxidation (denominator).1[1], 11[2]
Ratio Evidence:
metabolites related through biology
Gene Ratio Phenotype Relationship:
Genetic variants altering ACOT2 function likely disrupt mitochondrial fatty acid metabolism, reflected by the ratio. This dysregulation can lead to abnormal lipid profiles, such as hypercholesterolemia, and increase the risk for cardiovascular phenotypes like coronary atherosclerosis, cholelithiasis, and myocardial infarction.12[1], 13[2], 14[3]
Phenotype Driver:
Gene-centric:ACOT2
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