ACOT7
Basic information
Region (hg38): 1:6264269-6393767
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 ACOT7 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 | 5 | |||||
missense | 18 | 18 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 3 | |||||
Total | 0 | 0 | 18 | 3 | 5 |
Variants in ACOT7
This is a list of pathogenic ClinVar variants found in the ACOT7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-6264611-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
1-6264613-G-A | not specified | Uncertain significance (Jan 16, 2024) | ||
1-6264622-T-C | not specified | Uncertain significance (Jan 26, 2022) | ||
1-6264687-G-A | ACOT7-related disorder | Benign (Jul 12, 2019) | ||
1-6281094-G-A | Benign (Jul 04, 2018) | |||
1-6281179-A-G | Uncertain significance (Jun 29, 2017) | |||
1-6281227-C-T | not specified | Uncertain significance (Aug 21, 2023) | ||
1-6281244-T-C | not specified | Uncertain significance (Aug 17, 2022) | ||
1-6281250-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
1-6294895-G-A | Benign (Jul 23, 2018) | |||
1-6318500-A-C | not specified | Uncertain significance (Sep 20, 2023) | ||
1-6327328-C-T | not specified | Uncertain significance (May 28, 2024) | ||
1-6327329-C-T | not specified | Uncertain significance (Nov 21, 2022) | ||
1-6327338-A-C | not specified | Uncertain significance (Feb 14, 2023) | ||
1-6327390-C-G | not specified | Uncertain significance (Nov 17, 2022) | ||
1-6327407-G-C | not specified | Uncertain significance (Oct 16, 2023) | ||
1-6339467-C-T | ACOT7-related disorder | Benign (Apr 18, 2019) | ||
1-6339545-G-A | ACOT7-related disorder | Likely benign (May 28, 2019) | ||
1-6339567-G-A | not specified | Uncertain significance (Jul 06, 2021) | ||
1-6339586-G-A | not specified | Uncertain significance (Apr 20, 2024) | ||
1-6349751-C-T | not specified | Uncertain significance (May 18, 2023) | ||
1-6349823-C-T | not specified | Uncertain significance (May 26, 2024) | ||
1-6358822-G-A | ACOT7-related disorder | Benign (Dec 06, 2019) | ||
1-6360653-C-T | ACOT7-related disorder | Likely benign (Jun 12, 2019) | ||
1-6385502-A-G | ACOT7-related disorder | Likely benign (Mar 28, 2019) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ACOT7 | protein_coding | protein_coding | ENST00000377855 | 9 | 130123 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.759 | 0.241 | 125669 | 0 | 2 | 125671 | 0.00000796 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.98 | 176 | 267 | 0.659 | 0.0000180 | 2471 |
Missense in Polyphen | 49 | 92.731 | 0.52841 | 823 | ||
Synonymous | -1.27 | 131 | 114 | 1.15 | 0.00000844 | 768 |
Loss of Function | 3.26 | 3 | 17.9 | 0.168 | 8.43e-7 | 197 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000889 | 0.00000880 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000332 | 0.0000327 |
Other | 0.00 | 0.00 |
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. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl- CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active towards fatty acyl-CoAs with chain-lengths of C8-C18. Has a maximal activity toward palmitoyl-CoA.;
- Pathway
- Biosynthesis of unsaturated fatty acids - Homo sapiens (human);Fatty acid elongation - Homo sapiens (human);stearate biosynthesis;Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Leukotriene metabolism;Metabolism;Fatty acid metabolism;palmitate biosynthesis;Bile acid biosynthesis;De novo fatty acid biosynthesis;Vitamin E metabolism;acyl-CoA hydrolysis
(Consensus)
Recessive Scores
- pRec
- 0.745
Intolerance Scores
- loftool
- 0.548
- rvis_EVS
- -0.76
- rvis_percentile_EVS
- 13.45
Haploinsufficiency Scores
- pHI
- 0.0752
- hipred
- Y
- hipred_score
- 0.728
- ghis
- 0.648
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.415
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Acot7
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- acyl-CoA metabolic process;coenzyme A biosynthetic process;medium-chain fatty-acyl-CoA catabolic process;long-chain fatty-acyl-CoA catabolic process;medium-chain fatty acid biosynthetic process;palmitic acid biosynthetic process
- Cellular component
- nucleoplasm;mitochondrion;cytosol;extracellular exosome
- Molecular function
- fatty-acyl-CoA binding;protein binding;palmitoyl-CoA hydrolase activity;long-chain fatty acyl-CoA binding;protein homodimerization activity;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity;myristoyl-CoA hydrolase activity