ACOT9
Basic information
Region (hg38): X:23701054-23766475
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT9 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 | |||||
missense | 14 | 16 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 14 | 3 | 0 |
Variants in ACOT9
This is a list of pathogenic ClinVar variants found in the ACOT9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-23703909-G-A | Likely benign (Apr 01, 2023) | |||
X-23703928-G-A | not specified | Likely benign (Feb 01, 2023) | ||
X-23704748-A-T | not specified | Uncertain significance (Aug 02, 2021) | ||
X-23704822-T-C | not specified | Uncertain significance (Dec 07, 2021) | ||
X-23704995-G-C | Likely benign (Dec 01, 2022) | |||
X-23705578-T-C | not specified | Uncertain significance (Aug 15, 2023) | ||
X-23705818-C-T | not specified | Uncertain significance (Nov 08, 2022) | ||
X-23705856-G-A | Uncertain significance (Jul 01, 2022) | |||
X-23706706-G-A | not specified | Uncertain significance (Apr 01, 2024) | ||
X-23707872-T-C | Likely benign (Mar 01, 2023) | |||
X-23707927-G-A | not specified | Uncertain significance (Dec 28, 2023) | ||
X-23713187-G-A | not specified | Uncertain significance (Jan 10, 2022) | ||
X-23713204-T-C | Likely benign (-) | |||
X-23721933-T-C | not specified | Uncertain significance (Feb 14, 2023) | ||
X-23721954-T-C | not specified | Uncertain significance (Mar 16, 2022) | ||
X-23722697-T-C | not specified | Uncertain significance (Dec 02, 2021) | ||
X-23730531-C-A | not specified | Uncertain significance (Apr 07, 2023) | ||
X-23730820-C-T | not specified | Uncertain significance (Jun 22, 2024) | ||
X-23730849-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
X-23730899-C-G | not specified | Uncertain significance (Nov 18, 2022) | ||
X-23735932-G-T | not specified | Uncertain significance (Mar 20, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ACOT9 | protein_coding | protein_coding | ENST00000379303 | 16 | 64223 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.80e-9 | 0.446 | 125709 | 16 | 20 | 125745 | 0.000143 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.702 | 144 | 170 | 0.848 | 0.0000128 | 2977 |
Missense in Polyphen | 46 | 54.25 | 0.84793 | 945 | ||
Synonymous | 1.15 | 49 | 60.3 | 0.812 | 0.00000474 | 800 |
Loss of Function | 0.957 | 15 | 19.6 | 0.767 | 0.00000148 | 339 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000152 | 0.000152 |
Ashkenazi Jewish | 0.000134 | 0.0000992 |
East Asian | 0.000219 | 0.000163 |
Finnish | 0.000254 | 0.000185 |
European (Non-Finnish) | 0.000237 | 0.000167 |
Middle Eastern | 0.000219 | 0.000163 |
South Asian | 0.000214 | 0.000131 |
Other | 0.000221 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs.;
- Pathway
- Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism;acyl-CoA hydrolysis
(Consensus)
Recessive Scores
- pRec
- 0.0912
Intolerance Scores
- loftool
- 0.911
- rvis_EVS
- 0.44
- rvis_percentile_EVS
- 77.7
Haploinsufficiency Scores
- pHI
- 0.150
- hipred
- N
- hipred_score
- 0.219
- ghis
- 0.432
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.777
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Acot9
- Phenotype
Gene ontology
- Biological process
- acyl-CoA metabolic process
- Cellular component
- mitochondrion;mitochondrial matrix
- Molecular function
- acetyl-CoA hydrolase activity;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity