ACSM6

acyl-CoA synthetase medium chain family member 6, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 10:95194200-95228929

Previous symbols: [ "C10orf129" ]

Links

ENSG00000173124 ∙ NCBI:142827 ∙ ∙ HGNC:31665 ∙ Uniprot:Q6P461 ∙ 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 ACSM6 gene.

• not_specified (50 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSM6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207321.3. 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			48	2		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACSM6	protein_coding	protein_coding	ENST00000341686	10	34729

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.53e-7	0.849	125624	0	124	125748	0.000493

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.957	212	255	0.831	0.0000129	3130
Missense in Polyphen		46	65.493	0.70236		797
Synonymous	1.99	68	92.3	0.737	0.00000471	926
Loss of Function	1.54	14	21.8	0.643	0.00000100	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000554	0.000554
Ashkenazi Jewish	0.00	0.00
East Asian	0.00473	0.00474
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.00473	0.00474
South Asian	0.000163	0.000163
Other	0.000814	0.000815

dbNSFP

Source: dbNSFP

• Pathway: Butanoate metabolism - Homo sapiens (human);Metabolism of lipids;Beta oxidation of butanoyl-CoA to acetyl-CoA;mitochondrial fatty acid beta-oxidation of saturated fatty acids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism;γ-linolenate biosynthesis;icosapentaenoate biosynthesis II (metazoa) (Consensus)

Intolerance Scores

• rvis_EVS: 0.68
• rvis_percentile_EVS: 85.04

Haploinsufficiency Scores

• pHI: 0.0335
• hipred: N
• hipred_score: 0.112

Gene ontology

• Biological process: fatty acid biosynthetic process;acyl-CoA metabolic process
• Cellular component: mitochondrial matrix
• Molecular function: acyl-CoA ligase activity;fatty-acyl-CoA synthase activity;ATP binding;GTP binding;fatty acid ligase activity;metal ion binding;butyrate-CoA ligase activity