ACAD11
Basic information
Region (hg38): 3:132558138-132660082
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | 2 | |||||
missense | 34 | 37 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 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) | ||
3-132559005-C-T | not specified | Likely benign (Mar 02, 2023) | ||
3-132559012-C-G | not specified | Uncertain significance (Jul 14, 2022) | ||
3-132559021-C-T | not specified | Uncertain significance (Nov 10, 2022) | ||
3-132559062-C-T | not specified | Uncertain significance (Nov 16, 2021) | ||
3-132559074-G-A | not specified | Uncertain significance (Apr 08, 2024) | ||
3-132561139-T-C | not specified | Uncertain significance (Apr 05, 2023) | ||
3-132561166-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
3-132561170-C-A | not specified | Uncertain significance (Feb 05, 2024) | ||
3-132561184-T-C | not specified | Uncertain significance (Apr 20, 2023) | ||
3-132561187-G-A | not specified | Uncertain significance (Aug 01, 2022) | ||
3-132575837-C-T | not specified | Uncertain significance (Mar 20, 2024) | ||
3-132575844-C-T | Likely benign (Mar 01, 2022) | |||
3-132575894-G-A | not specified | Uncertain significance (May 25, 2022) | ||
3-132576970-C-T | not specified | Uncertain significance (Dec 09, 2023) | ||
3-132578881-T-C | not specified | Likely benign (Jan 03, 2024) | ||
3-132579514-T-C | not specified | Uncertain significance (Aug 02, 2023) | ||
3-132579534-A-G | not specified | Uncertain significance (Dec 16, 2023) | ||
3-132579544-T-G | not specified | Uncertain significance (Nov 17, 2022) | ||
3-132601200-T-C | not specified | Uncertain significance (Aug 13, 2021) | ||
3-132601238-A-G | not specified | Uncertain significance (Sep 17, 2021) | ||
3-132601239-T-C | not specified | Uncertain significance (Jun 18, 2021) | ||
3-132601286-T-C | not specified | Uncertain significance (Jul 06, 2021) | ||
3-132603242-T-A | not specified | Uncertain significance (Oct 29, 2021) | ||
3-132603276-C-T | not specified | Uncertain significance (Jun 10, 2024) |
GnomAD
Source:
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:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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