ACOXL

acyl-CoA oxidase like

Basic information

Region (hg38): 2:110732538-111118548

Links

ENSG00000153093 ∙ NCBI:55289 ∙ ∙ HGNC:25621 ∙ Uniprot:Q9NUZ1 ∙ 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 ACOXL gene.

• Inborn genetic diseases (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOXL 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						0
missense			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	0

Variants in ACOXL

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

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

Position	Type	Phenotype	Significance	ClinVar
2-110768447-C-T		not specified	Uncertain significance (Dec 03, 2021)
2-110784804-A-G		not specified	Uncertain significance (Aug 01, 2022)
2-110784811-T-A		not specified	Uncertain significance (Dec 02, 2022)
2-110794107-C-A		not specified	Uncertain significance (Jan 02, 2024)
2-110794109-G-A		not specified	Uncertain significance (Nov 17, 2022)
2-110794154-A-G		not specified	Uncertain significance (Apr 08, 2022)
2-110798641-C-T		not specified	Uncertain significance (Feb 16, 2023)
2-110798706-A-T		not specified	Uncertain significance (Jun 30, 2022)
2-110799020-A-T		not specified	Uncertain significance (Feb 02, 2022)
2-110799023-G-A		not specified	Uncertain significance (Feb 28, 2023)
2-110801675-A-G		not specified	Uncertain significance (Sep 06, 2022)
2-110805324-T-C		not specified	Uncertain significance (Jul 27, 2021)
2-110805366-G-T		not specified	Uncertain significance (Jun 09, 2022)
2-110805388-C-T		not specified	Uncertain significance (Jul 14, 2021)
2-110841383-A-G		not specified	Uncertain significance (May 16, 2023)
2-110841385-A-G		not specified	Uncertain significance (Jan 09, 2024)
2-110841387-C-G		not specified	Uncertain significance (Dec 17, 2023)
2-110908856-C-T		not specified	Likely benign (Nov 17, 2022)
2-110908865-C-A		not specified	Uncertain significance (May 13, 2022)
2-110933494-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-110933545-G-A		not specified	Uncertain significance (Oct 20, 2023)
2-110933623-G-A		not specified	Uncertain significance (Jul 08, 2022)
2-110933631-A-G		not specified	Uncertain significance (Jul 14, 2023)
2-110933634-G-A		not specified	Uncertain significance (Jun 21, 2023)
2-110987117-C-T		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOXL	protein_coding	protein_coding	ENST00000439055	17	385650

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.25e-15	0.178	124140	132	1476	125748	0.00641

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	286	339	0.844	0.0000184	3772
Missense in Polyphen		70	93.333	0.75		1139
Synonymous	0.934	122	136	0.898	0.00000772	1139
Loss of Function	1.11	26	32.9	0.790	0.00000157	382

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0829	0.0713
Ashkenazi Jewish	0.0103	0.0102
East Asian	0.000767	0.000761
Finnish	0.000185	0.000185
European (Non-Finnish)	0.00196	0.00194
Middle Eastern	0.000767	0.000761
South Asian	0.000688	0.000653
Other	0.00524	0.00523

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of lipids;Beta-oxidation of pristanoyl-CoA;Peroxisomal lipid metabolism;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.0796

Intolerance Scores

• loftool: 0.338
• rvis_EVS: 1.87
• rvis_percentile_EVS: 97.2

Haploinsufficiency Scores

• pHI: 0.0721
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.117

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acoxl

Gene ontology

• Biological process: biological_process;fatty acid beta-oxidation using acyl-CoA oxidase;lipid homeostasis
• Cellular component: cellular_component;peroxisome;peroxisomal matrix
• Molecular function: molecular_function;acyl-CoA oxidase activity;fatty acid binding;pristanoyl-CoA oxidase activity;flavin adenine dinucleotide binding