ACAD11

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

Basic information

Region (hg38): 3:132558138-132660082

Links

ENSG00000240303 ∙ NCBI:84129 ∙ OMIM:614288 ∙ HGNC:30211 ∙ Uniprot:Q709F0 ∙ 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 ACAD11 gene.

• not_specified (90 variants)
• not_provided (5 variants)
• Developmental_and_epileptic_encephalopathy,_44 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACAD11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032169.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	3		4
missense			80	5		85
nonsense		1				1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			1			1
Total	0	1	83	8	0

Highest pathogenic variant AF is 0.00046677332

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACAD11	protein_coding	protein_coding	ENST00000264990	20	102586

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.18e-15	0.922	120147	121	5480	125748	0.0225

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.508	396	426	0.931	0.0000221	5085
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0450	0.0416
Ashkenazi Jewish	0.0224	0.0205
East Asian	0.0685	0.0574
Finnish	0.00613	0.00598
European (Non-Finnish)	0.0155	0.0144
Middle Eastern	0.0685	0.0574
South Asian	0.0696	0.0586
Other	0.0180	0.0154

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA. {ECO:0000269|PubMed:21237683}.
• Pathway: Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism;Propanoate metabolism;Valine Leucine Isoleucine degradation (Consensus)

Recessive Scores

• pRec: 0.205

Intolerance Scores

• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.9

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acad11

Gene ontology

• Biological process: fatty acid beta-oxidation;fatty acid beta-oxidation using acyl-CoA dehydrogenase
• Cellular component: nucleus;mitochondrial inner membrane;peroxisome;mitochondrial membrane
• 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