ACAD11

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

Basic information

Region (hg38): 3:132558138-132660082

Links

ENSG00000240303NCBI:84129OMIM:614288HGNC:30211Uniprot:Q709F0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACAD11 gene.

  • 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.

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
clinvar
1
clinvar
2
missense
34
clinvar
3
clinvar
37
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
4
clinvar
1
clinvar
5
Total 1 0 39 4 1

Highest pathogenic variant AF is 0.00246

Variants in ACAD11

This is a list of pathogenic ClinVar variants found in the ACAD11 region.

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

Position Type Phenotype Significance ClinVar
3-132559003-C-T not specified Uncertain significance (Jul 27, 2022)2303773
3-132559005-C-T not specified Likely benign (Mar 02, 2023)2492970
3-132559012-C-G not specified Uncertain significance (Jul 14, 2022)2400029
3-132559021-C-T not specified Uncertain significance (Nov 10, 2022)2214874
3-132559062-C-T not specified Uncertain significance (Nov 16, 2021)2219602
3-132559074-G-A not specified Uncertain significance (Apr 08, 2024)3260679
3-132561139-T-C not specified Uncertain significance (Apr 05, 2023)2533257
3-132561166-G-A not specified Uncertain significance (Nov 18, 2022)2257074
3-132561170-C-A not specified Uncertain significance (Feb 05, 2024)3134559
3-132561184-T-C not specified Uncertain significance (Apr 20, 2023)2539194
3-132561187-G-A not specified Uncertain significance (Aug 01, 2022)2396808
3-132575837-C-T not specified Uncertain significance (Mar 20, 2024)3260669
3-132575844-C-T Likely benign (Mar 01, 2022)2654160
3-132575894-G-A not specified Uncertain significance (May 25, 2022)2363201
3-132576970-C-T not specified Uncertain significance (Dec 09, 2023)3134548
3-132578881-T-C not specified Likely benign (Jan 03, 2024)3134545
3-132579514-T-C not specified Uncertain significance (Aug 02, 2023)2615163
3-132579534-A-G not specified Uncertain significance (Dec 16, 2023)3134534
3-132579544-T-G not specified Uncertain significance (Nov 17, 2022)2326446
3-132601200-T-C not specified Uncertain significance (Aug 13, 2021)2245263
3-132601238-A-G not specified Uncertain significance (Sep 17, 2021)2226977
3-132601239-T-C not specified Uncertain significance (Jun 18, 2021)2233337
3-132601286-T-C not specified Uncertain significance (Jul 06, 2021)2235360
3-132603242-T-A not specified Uncertain significance (Oct 29, 2021)2396651
3-132603276-C-T not specified Uncertain significance (Jun 10, 2024)3260689

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACAD11protein_codingprotein_codingENST00000264990 20102586
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.18e-150.92212014712154801257480.0225
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5083964260.9310.00002215085
Missense in Polyphen152162.750.933941917
Synonymous-1.241641451.130.000007481479
Loss of Function2.203046.10.6510.00000234537

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.04500.0416
Ashkenazi Jewish0.02240.0205
East Asian0.06850.0574
Finnish0.006130.00598
European (Non-Finnish)0.01550.0144
Middle Eastern0.06850.0574
South Asian0.06960.0586
Other0.01800.0154

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

loftool
rvis_EVS
0.6
rvis_percentile_EVS
82.9

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.443
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Acad11
Phenotype

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