ACSL6

acyl-CoA synthetase long chain family member 6, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 5:131949972-132012243

Previous symbols: [ "FACL6" ]

Links

ENSG00000164398 ∙ NCBI:23305 ∙ OMIM:604443 ∙ HGNC:16496 ∙ Uniprot:Q9UKU0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACSL6 gene.

• Inborn genetic diseases (9 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSL6 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	9	0	2

Variants in ACSL6

This is a list of pathogenic ClinVar variants found in the ACSL6 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-131959599-C-G		not specified	Uncertain significance (Jun 05, 2023)
5-131960528-T-C		ACSL6-related disorder	Likely benign (Jun 08, 2023)
5-131962599-A-G		not specified	Uncertain significance (Nov 14, 2023)
5-131966431-G-A		ACSL6-related disorder	Benign (Oct 28, 2019)
5-131966477-G-A		ACSL6-related disorder	Likely benign (Oct 06, 2020)
5-131971591-G-A		not specified	Uncertain significance (Nov 12, 2021)
5-131972737-A-C		not specified	Uncertain significance (Dec 14, 2023)
5-131972777-C-G		not specified	Uncertain significance (Jan 23, 2024)
5-131972782-C-T		not specified	Uncertain significance (Oct 29, 2021)
5-131972812-A-G		not specified	Uncertain significance (Feb 09, 2023)
5-131972827-C-A		not specified	Uncertain significance (Mar 04, 2024)
5-131972828-G-A		ACSL6-related disorder	Likely benign (May 16, 2022)
5-131973375-C-T		not specified	Uncertain significance (Aug 21, 2023)
5-131974979-G-C			Benign (Apr 03, 2018)
5-131976686-C-T		not specified	Uncertain significance (Jan 05, 2022)
5-131985466-G-C		ACSL6-related disorder	Benign (Nov 22, 2019)
5-131988053-C-T		not specified	Uncertain significance (Nov 08, 2021)
5-131988080-C-A		not specified	Uncertain significance (Jan 30, 2024)
5-131988868-T-C		not specified	Uncertain significance (Feb 26, 2024)
5-131989434-A-C		not specified	Uncertain significance (Aug 11, 2022)
5-131989448-T-A		not specified	Uncertain significance (Nov 03, 2023)
5-131989503-G-A		ACSL6-related disorder	Likely benign (Dec 05, 2019)
5-131989508-C-T		ACSL6-related disorder	Likely benign (Oct 06, 2020)
5-131990873-C-T		not specified	Uncertain significance (Jan 04, 2022)
5-131994067-C-T			Benign (Jul 05, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACSL6	protein_coding	protein_coding	ENST00000379264	21	205254

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00322	0.997	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.76	321	423	0.759	0.0000239	4700
Missense in Polyphen		111	175.37	0.63296		1922
Synonymous	-1.23	180	160	1.12	0.00000934	1418
Loss of Function	4.29	13	43.5	0.299	0.00000212	490

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000109	0.000109
South Asian	0.000565	0.000555
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid.
• Disease: DISEASE: Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. {ECO:0000269|PubMed:10502316}.; DISEASE: Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. {ECO:0000269|PubMed:10502316}.; DISEASE: Note=A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ETV6. {ECO:0000269|PubMed:10502316}.
• 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);Fatty Acid Beta Oxidation;Fatty Acid Biosynthesis;PPAR signaling pathway;Liver steatosis AOP;Metabolism of lipids;Fatty acyl-CoA biosynthesis;fatty acid activation;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: 0.122

Intolerance Scores

• loftool: 0.803
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.63

Haploinsufficiency Scores

• pHI: 0.0542
• hipred: Y
• hipred_score: 0.537
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.954

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Acsl6

Gene ontology

• Biological process: long-chain fatty acid metabolic process;acyl-CoA metabolic process;neuroblast proliferation;long-chain fatty-acyl-CoA biosynthetic process
• Cellular component: mitochondrial outer membrane;peroxisomal membrane;endoplasmic reticulum membrane;plasma membrane;integral component of membrane
• Molecular function: long-chain fatty acid-CoA ligase activity;ATP binding;protein homodimerization activity;decanoate-CoA ligase activity