ACAD11

protein-coding

acyl-CoA dehydrogenase family member 11, the group of Acyl-CoA dehydrogenase family

Gene summary

This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]

MANE transcript

NM_032169.5

Inheritance

—

ClinVar variants

P:1U:99B:9

Top phenotype

Developmental and epileptic encephalopathy, 44

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr3:132,558,138-132,660,082

External References & Databases

Ensembl (ENSG00000240303)

Transcript & Mutation Effects

hg38 • Region Span ~101.9 kb

Loading mutation effect viewer...

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 ACAD11 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 107

not providedTotal: 5

Developmental and epileptic encephalopathy, 44Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032169.5. 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			1 clinvar	3 clinvar		4
missense			96 clinvar	6 clinvar		102
nonsense		1 clinvar				1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	1	99	9	0	109

Highest pathogenic variant AF is 0.00046677332

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 49 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032169.5	RefSeq	NP_115545.3	20	MANE Select
ENST00000264990.11	Ensembl	ENSP00000264990.6	20	MANE Select
ENST00000481970.2	Ensembl	ENSP00000420907.1	11	Standard
ENST00000481970.3	Ensembl	ENSP00000420907.1	11	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
Propanoate metabolism

Biological Process

fatty acid beta-oxidation
fatty acid beta-oxidation using acyl-CoA dehydrogenase

Molecular Function

acyl-CoA dehydrogenase activity
long-chain-acyl-CoA dehydrogenase activity
very-long-chain-acyl-CoA dehydrogenase activity
flavin adenine dinucleotide binding
medium-chain-acyl-CoA dehydrogenase activity

Cellular Component

nucleus
mitochondrial inner membrane
peroxisome
mitochondrial membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000264990
Coding exons: 20
Length: 102586
Individuals with no LoFs: 120147
Homozygous LoFs: 121
Heterozygous LoFs: 5480
Defined: 125748
p: 0.0225

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.508	396	426	0.931	0.0000221	5085
Missense (PolyPhen)		152	162.75	0.93394		1917
Synonymous	-1.24	164	145	1.13	0.00000748	1479
Loss of Function	2.20	30	46.1	0.651	0.00000234	537

Population LoF Frequency

Population	CAF	p-value	Status
African	0.036	0.033	notable
Latino/Admixed American	0.0089	0.0074	notable
Ashkenazi Jewish	0.022	0.021	notable
East Asian	0.069	0.057	notable
Finnish	0.0061	0.0060	notable
European (Non-Finnish)	0.016	0.014	notable
South Asian	0.070	0.059	notable
Other	0.018	0.015	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA. {ECO:0000269|PubMed:21237683}.;

Recessive Scores

pRec: 0.205

Intolerance Scores

RVIS EVS: 0.6
RVIS percentile EVS: 82.9

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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