ACSBG1

acyl-CoA synthetase bubblegum family member 1, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 15:78167467-78245688

Links

ENSG00000103740 ∙ NCBI:23205 ∙ OMIM:614362 ∙ HGNC:29567 ∙ Uniprot:Q96GR2 ∙ 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 ACSBG1 gene.

• Inborn genetic diseases (29 variants)
• not provided (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSBG1 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	2	3
missense			28	1	1	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5	4	3	12
Total	0	0	33	6	6

Variants in ACSBG1

This is a list of pathogenic ClinVar variants found in the ACSBG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-78168917-C-T			Likely benign (Aug 19, 2022)
15-78168930-A-G			Benign (Dec 22, 2023)
15-78168936-T-C		IDH3A-related disorder	Benign (Jan 31, 2024)
15-78168948-T-C			Likely benign (Aug 10, 2023)
15-78168950-C-T			Uncertain significance (Jun 13, 2023)
15-78168951-A-G			Likely benign (Nov 06, 2023)
15-78168952-A-G			Uncertain significance (Nov 27, 2020)
15-78168982-C-T		IDH3A-related disorder	Likely benign (Jan 26, 2024)
15-78168983-G-A			Uncertain significance (Feb 04, 2022)
15-78168984-C-T			Likely benign (Jan 29, 2023)
15-78168985-C-T			Uncertain significance (Jun 19, 2021)
15-78168986-G-A		not specified	Uncertain significance (Oct 05, 2023)
15-78169115-A-G			Benign (May 12, 2021)
15-78173605-C-T		not specified	Uncertain significance (Nov 23, 2021)
15-78173606-C-T			Benign (May 21, 2018)
15-78173658-C-T		not specified	Uncertain significance (Mar 22, 2023)
15-78173669-G-A			Benign (May 09, 2018)
15-78173784-A-G		not specified	Uncertain significance (Aug 04, 2021)
15-78174518-A-T		not specified	Uncertain significance (Jun 21, 2023)
15-78178659-G-A		not specified	Uncertain significance (Aug 17, 2022)
15-78178692-C-T			Benign (May 21, 2018)
15-78178778-T-G		not specified	Uncertain significance (Oct 12, 2021)
15-78178805-C-T		not specified	Uncertain significance (Feb 07, 2023)
15-78178812-C-T		not specified	Uncertain significance (Jan 23, 2023)
15-78178826-C-T		not specified	Uncertain significance (Feb 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACSBG1	protein_coding	protein_coding	ENST00000258873	14	78221

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000396	1.00	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	354	465	0.761	0.0000290	4738
Missense in Polyphen		113	172.14	0.65645		1801
Synonymous	-1.02	208	190	1.09	0.0000127	1414
Loss of Function	3.42	14	36.2	0.387	0.00000163	404

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000582	0.0000582
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000177	0.000167
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids. {ECO:0000269|PubMed:10954726, ECO:0000269|PubMed:12975357}.
• Pathway: Adipocytokine signaling pathway - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Fatty acid biosynthesis - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Lipid Metabolism Pathway;stearate biosynthesis;chrebp regulation by carbohydrates and camp;Metabolism of lipids;Fatty acyl-CoA biosynthesis;fatty acid activation;Metabolism;Fatty acid metabolism;γ-linolenate biosynthesis;fatty acid β-oxidation (peroxisome);fatty acid β-oxidation;Synthesis of very long-chain fatty acyl-CoAs (Consensus)

Recessive Scores

• pRec: 0.211

Intolerance Scores

• loftool: 0.554
• rvis_EVS: -0.37
• rvis_percentile_EVS: 28.2

Haploinsufficiency Scores

• pHI: 0.0945
• hipred: Y
• hipred_score: 0.524
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.230

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acsbg1
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; reproductive system phenotype

Gene ontology

• Biological process: very long-chain fatty acid metabolic process;long-chain fatty acid metabolic process;long-chain fatty-acyl-CoA biosynthetic process;myelination;response to glucocorticoid
• Cellular component: cytoplasm;endoplasmic reticulum;cytosol;cytoplasmic vesicle
• Molecular function: long-chain fatty acid-CoA ligase activity;ATP binding;very long-chain fatty acid-CoA ligase activity;decanoate-CoA ligase activity