ACY3

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			67 clinvar	5 clinvar		72
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	70	5	0	75

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_080658.2	RefSeq	NP_542389.1	6	MANE Select
ENST00000255082.8	Ensembl	ENSP00000255082.3	6	MANE Select
ENST00000529256.1	Ensembl	ENSP00000434270.1	5	Standard
ENST00000529256.2	Ensembl	ENSP00000434270.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Biological oxidations
Metabolism
Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine
Aflatoxin activation and detoxification

Biological Process

xenobiotic metabolic process
biological_process
viral process

Molecular Function

molecular_function
aminoacylase activity
protein binding
hydrolase activity, acting on ester bonds
identical protein binding

Cellular Component

cytosol
apical plasma membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000255082
Coding exons: 6
Length: 8105
Individuals with no LoFs: 125720
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 125743
p: 0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0585	200	198	1.01	0.0000124	2029
Missense (PolyPhen)		52	53.057	0.98007		646
Synonymous	0.659	83	91.0	0.912	0.00000636	678
Loss of Function	0.551	9	11.0	0.820	5.53e-7	115

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.000098	0.000088	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.126

Intolerance Scores

LoFtool: 0.269
RVIS EVS: -0.24
RVIS percentile EVS: 36.17

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.889

Gene Damage Prediction

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