AADACL4

arylacetamide deacetylase like 4, the group of Arylacetamide deacetylase family

Basic information

Region (hg38): 1:12644085-12667076

Links

ENSG00000204518 ∙ NCBI:343066 ∙ ∙ HGNC:32038 ∙ Uniprot:Q5VUY2 ∙ 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 AADACL4 gene.

• not_specified (66 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AADACL4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001013630.2. 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			58	10		68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	11	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AADACL4	protein_coding	protein_coding	ENST00000376221	4	22532

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000154	0.448	125657	2	87	125746	0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.936	275	235	1.17	0.0000140	2659
Missense in Polyphen		72	61.846	1.1642		808
Synonymous	0.531	88	94.6	0.931	0.00000565	835
Loss of Function	0.245	6	6.68	0.898	3.68e-7	73

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00438	0.00425
Finnish	0.0000473	0.0000462
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00438	0.00425
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0928

Intolerance Scores

• loftool: 0.787
• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.32

Haploinsufficiency Scores

• pHI: 0.0590
• hipred: N
• hipred_score: 0.112
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.327

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aadacl4

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: carboxylic ester hydrolase activity