AADAC

arylacetamide deacetylase, the group of Lipases|Arylacetamide deacetylase family

Basic information

Region (hg38): 3:151814073-151828488

Links

ENSG00000114771 ∙ NCBI:13 ∙ OMIM:600338 ∙ HGNC:17 ∙ Uniprot:P22760 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AADAC gene.

• not_specified (48 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AADAC gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001086.3. 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				1		1
missense			47	1		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AADAC	protein_coding	protein_coding	ENST00000232892	5	14452

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00291	0.947	125676	0	48	125724	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.364	195	210	0.929	0.0000106	2587
Missense in Polyphen		58	67.316	0.86161		871
Synonymous	-0.599	87	80.2	1.09	0.00000429	777
Loss of Function	1.71	6	12.5	0.478	5.24e-7	181

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.00174	0.00174
Finnish	0.00	0.00
European (Non-Finnish)	0.0000533	0.0000528
Middle Eastern	0.00174	0.00174
South Asian	0.000232	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity. {ECO:0000269|PubMed:17936933, ECO:0000269|PubMed:19339378, ECO:0000269|PubMed:22207054, ECO:0000269|PubMed:22415931, ECO:0000269|PubMed:23542347}.
• Pathway: Phase I - Functionalization of compounds;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.0773

Intolerance Scores

• loftool: 0.819
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.92

Haploinsufficiency Scores

• pHI: 0.0240
• hipred: N
• hipred_score: 0.146
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.673

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aadac

Gene ontology

• Biological process: xenobiotic metabolic process;positive regulation of triglyceride catabolic process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane;organelle membrane
• Molecular function: catalytic activity;triglyceride lipase activity;lipase activity;serine hydrolase activity;deacetylase activity