ACAD10

protein-coding

acyl-CoA dehydrogenase family member 10, the group of Acyl-CoA dehydrogenase family

Gene summary

This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]

MANE transcript

NM_025247.6

Inheritance

—

ClinVar variants

U:162B:11

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr12:111,686,053-111,757,107

External References & Databases

Ensembl (ENSG00000111271)

Transcript & Mutation Effects

hg38 • Region Span ~71.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ACAD10 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 154

not providedTotal: 2

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_025247.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar			3
missense			151 clinvar	11 clinvar		162
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	162	11	0	173

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 123 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_025247.6	RefSeq	NP_079523.3	20	MANE Select
ENST00000313698.9	Ensembl	ENSP00000325137.5	20	MANE Select
NM_001136538.2	RefSeq	NP_001130010.1	21	Standard
ENST00000455480.6	Ensembl	ENSP00000389813.2	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Mitochondrial Fatty Acid Beta-Oxidation
Metabolism
Fatty acid metabolism

Biological Process

fatty acid beta-oxidation

Molecular Function

acyl-CoA dehydrogenase activity
hydrolase activity
flavin adenine dinucleotide binding

Cellular Component

mitochondrion
mitochondrial matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000455480
Coding exons: 21
Length: 71047
Individuals with no LoFs: 125039
Homozygous LoFs: 1
Heterozygous LoFs: 708
Defined: 125748
p: 0.00282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.370	617	643	0.959	0.0000372	7058
Missense (PolyPhen)		187	216.82	0.86245		2626
Synonymous	-0.155	255	252	1.01	0.0000152	2222
Loss of Function	1.00	51	59.4	0.859	0.00000350	617

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0096	0.0096	notable
Latino/Admixed American	0.0058	0.0058	notable
Ashkenazi Jewish	0.0044	0.0044	notable
East Asian	0.0066	0.0066	notable
Finnish	0.00033	0.00032	rare
European (Non-Finnish)	0.00096	0.00096	rare
South Asian	0.0020	0.0020	notable
Other	0.0021	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acyl-CoA dehydrogenase only active with R- and S-2- methyl-C15-CoA. {ECO:0000269|PubMed:21237683}.;

Recessive Scores

pRec: 0.495

Intolerance Scores

LoFtool: 0.107
RVIS EVS: -0.54
RVIS percentile EVS: 20.05

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.339

Gene Damage Prediction

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