ACSL1
acyl-CoA synthetase long chain family member 1, the group of Acyl-CoA synthetase family
Basic information
Region (hg38): 4:184755595-184826818
Previous symbols: [ "FACL2" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (66 variants)
- not_provided (5 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001995.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | |||||
| missense | 58 | 66 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 58 | 9 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ACSL1 | protein_coding | protein_coding | ENST00000515030 | 20 | 71224 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00153 | 0.998 | 125720 | 0 | 27 | 125747 | 0.000107 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.40 | 330 | 410 | 0.805 | 0.0000234 | 4552 |
| Missense in Polyphen | 54 | 103.31 | 0.5227 | 1221 | ||
| Synonymous | 0.439 | 153 | 160 | 0.956 | 0.0000103 | 1350 |
| Loss of Function | 4.37 | 14 | 46.0 | 0.305 | 0.00000263 | 492 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000218 | 0.000218 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000552 | 0.0000544 |
| Finnish | 0.000385 | 0.000370 |
| European (Non-Finnish) | 0.0000709 | 0.0000703 |
| Middle Eastern | 0.0000552 | 0.0000544 |
| South Asian | 0.0000654 | 0.0000653 |
| Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate.;
- Pathway
- Adipocytokine signaling pathway - Homo sapiens (human);Peroxisome - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Fatty acid biosynthesis - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Ferroptosis - Homo sapiens (human);Long chain acyl-CoA dehydrogenase deficiency (LCAD);Trifunctional protein deficiency;Carnitine palmitoyl transferase deficiency (II);Very-long-chain acyl coa dehydrogenase deficiency (VLCAD);Medium chain acyl-coa dehydrogenase deficiency (MCAD);Beta Oxidation of Very Long Chain Fatty Acids;Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD Deficiency);Fatty acid Metabolism;Oxidation of Branched Chain Fatty Acids;Glutaric Aciduria Type I;Ethylmalonic Encephalopathy;Mitochondrial Beta-Oxidation of Long Chain Saturated Fatty Acids;Adrenoleukodystrophy, X-linked;Carnitine-acylcarnitine translocase deficiency;Carnitine palmitoyl transferase deficiency (I);Fatty Acid Beta Oxidation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Fatty Acid Biosynthesis;Mitochondrial LC-Fatty Acid Beta-Oxidation;PPAR signaling pathway;Liver steatosis AOP;stearate biosynthesis;Metabolism of lipids;Fatty acyl-CoA biosynthesis;fatty acid activation;alpha-linolenic acid (ALA) metabolism;Linoleic acid (LA) metabolism;alpha-linolenic (omega3) and linoleic (omega6) acid metabolism;Leukotriene metabolism;Omega-3 fatty acid metabolism;Metabolism;Fatty acid metabolism;γ-linolenate biosynthesis;Mono-unsaturated fatty acid beta-oxidation;Omega-6 fatty acid metabolism;Di-unsaturated fatty acid beta-oxidation;Phytanic acid peroxisomal oxidation;fatty acid β-oxidation (peroxisome);icosapentaenoate biosynthesis II (metazoa);fatty acid β-oxidation;Synthesis of very long-chain fatty acyl-CoAs
(Consensus)
Recessive Scores
- pRec
- 0.329
Intolerance Scores
- loftool
- 0.636
- rvis_EVS
- -0.84
- rvis_percentile_EVS
- 11.36
Haploinsufficiency Scores
- pHI
- 0.248
- hipred
- Y
- hipred_score
- 0.554
- ghis
- 0.514
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.579
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Acsl1
- Phenotype
- growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- long-chain fatty acid metabolic process;response to nutrient;lipid biosynthetic process;response to organic cyclic compound;regulation of lipid metabolic process;triglyceride biosynthetic process;adiponectin-activated signaling pathway;response to oleic acid;long-chain fatty-acyl-CoA biosynthetic process;alpha-linolenic acid metabolic process;xenobiotic catabolic process;response to drug;linoleic acid metabolic process;long-chain fatty acid import;positive regulation of protein serine/threonine kinase activity;positive regulation of cold-induced thermogenesis
- Cellular component
- mitochondrion;mitochondrial outer membrane;peroxisomal membrane;endoplasmic reticulum membrane;plasma membrane;membrane;integral component of membrane
- Molecular function
- long-chain fatty acid-CoA ligase activity;ATP binding;decanoate-CoA ligase activity