ACAT2
Basic information
Region (hg38): 6:159762045-159779112
Links
Phenotypes
GenCC
Source:
- acetyl-CoA acetyltransferase-2 deficiency (Limited), mode of inheritance: AR
- acetyl-CoA acetyltransferase-2 deficiency (No Known Disease Relationship), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (51 variants)
- not_provided (7 variants)
- Acetyl-CoA_acetyltransferase-2_deficiency (1 variants)
- ZTTK_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACAT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005891.3. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 4 | |||||
missense | 47 | 51 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 48 | 6 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ACAT2 | protein_coding | protein_coding | ENST00000367048 | 9 | 18785 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.53e-7 | 0.671 | 125709 | 0 | 39 | 125748 | 0.000155 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.699 | 190 | 219 | 0.867 | 0.0000104 | 2561 |
Missense in Polyphen | 57 | 87.792 | 0.64926 | 1046 | ||
Synonymous | 0.418 | 68 | 72.5 | 0.938 | 0.00000331 | 817 |
Loss of Function | 1.12 | 12 | 17.0 | 0.706 | 7.82e-7 | 218 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000582 | 0.0000582 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000164 | 0.000163 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000250 | 0.000246 |
Middle Eastern | 0.000164 | 0.000163 |
South Asian | 0.000199 | 0.000196 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Mevalonate pathway;Tryptophan metabolism - Homo sapiens (human);Pyruvate metabolism - Homo sapiens (human);Butanoate metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Lysine degradation - Homo sapiens (human);Propanoate metabolism - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Synthesis and degradation of ketone bodies - Homo sapiens (human);Terpenoid backbone biosynthesis - Homo sapiens (human);Valine, leucine and isoleucine degradation - Homo sapiens (human);Glyoxylate and dicarboxylate metabolism - Homo sapiens (human);Simvastatin Action Pathway;Pravastatin Action Pathway;Atorvastatin Action Pathway;Hyper-IgD syndrome;Cholesteryl ester storage disease;Lysosomal Acid Lipase Deficiency (Wolman Disease);Alendronate Action Pathway;Rosuvastatin Action Pathway;Lovastatin Action Pathway;Mevalonic aciduria;Wolman disease;Risedronate Action Pathway;Cerivastatin Action Pathway;Pamidronate Action Pathway;Fluvastatin Action Pathway;Smith-Lemli-Opitz Syndrome (SLOS);Chondrodysplasia Punctata II, X Linked Dominant (CDPX2);CHILD Syndrome;Desmosterolosis;Hypercholesterolemia;Steroid Biosynthesis;Zoledronate Action Pathway;Ibandronate Action Pathway;ketogenesis;ketolysis;Butanoate metabolism;Metabolism of lipids;Citrate cycle;Metabolism;Lysine degradation;superpathway of cholesterol biosynthesis;Metabolism of steroids;isoleucine degradation;Pyruvate metabolism;glutaryl-CoA degradation;Tryptophan degradation;Cholesterol biosynthesis;mevalonate pathway;superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
(Consensus)
Recessive Scores
- pRec
- 0.259
Intolerance Scores
- loftool
- 0.537
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 28.93
Haploinsufficiency Scores
- pHI
- 0.114
- hipred
- N
- hipred_score
- 0.272
- ghis
- 0.605
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.348
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Acat3
- Phenotype
Gene ontology
- Biological process
- lipid metabolic process;fatty acid beta-oxidation;cholesterol biosynthetic process
- Cellular component
- nucleus;nucleolus;cytoplasm;mitochondrion;cytosol;extracellular exosome
- Molecular function
- acetyl-CoA C-acetyltransferase activity;acetyl-CoA C-acyltransferase activity;protein binding