ACAD10

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

Basic information

Region (hg38): 12:111686053-111757107

Links

ENSG00000111271 ∙ NCBI:80724 ∙ OMIM:611181 ∙ HGNC:21597 ∙ Uniprot:Q6JQN1 ∙ 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 ACAD10 gene.

• not_specified (139 variants)
• not_provided (2 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACAD10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025247.6. 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						0
missense			132	10		142
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	132	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACAD10	protein_coding	protein_coding	ENST00000455480	21	71047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-30	0.00139	125039	1	708	125748	0.00282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.370	617	643	0.959	0.0000372	7058
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0154	0.0155
Ashkenazi Jewish	0.00437	0.00437
East Asian	0.00658	0.00660
Finnish	0.000325	0.000323
European (Non-Finnish)	0.000962	0.000959
Middle Eastern	0.00658	0.00660
South Asian	0.00200	0.00199
Other	0.00213	0.00196

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyl-CoA dehydrogenase only active with R- and S-2- methyl-C15-CoA. {ECO:0000269|PubMed:21237683}.
• Pathway: Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.495

Intolerance Scores

• loftool: 0.107
• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.05

Haploinsufficiency Scores

• pHI: 0.0215
• hipred: N
• hipred_score: 0.144
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.339

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acad10

Gene ontology

• Biological process: fatty acid beta-oxidation
• Cellular component: mitochondrion;mitochondrial matrix
• Molecular function: acyl-CoA dehydrogenase activity;hydrolase activity;flavin adenine dinucleotide binding