ASPG

protein-coding

asparaginase, the group of Ankyrin repeat domain containing

Gene summary

Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups; asparaginase activity; and phosphatidylcholine lysophospholipase A1 activity. Predicted to be involved in asparagine metabolic process and phospholipid metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf76

MANE transcript

NM_001080464.3

Inheritance

—

ClinVar variants

U:96B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr14:104,085,686-104,115,582

External References & Databases

Ensembl (ENSG00000166183)

Transcript & Mutation Effects

hg38 • Region Span ~29.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ASPG variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080464.3. Only rare variants are included.

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 clinvar	2
missense			94 clinvar	8 clinvar		102
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	96	9	1	106

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 161 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080464.3	RefSeq	NP_001073933.2	16	MANE Select
ENST00000551177.6	Ensembl	ENSP00000450040.1	16	MANE Select
NM_001411060.1	RefSeq	NP_001397989.1	15	Standard
ENST00000546892.6	Ensembl	ENSP00000448911.2	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of amino acids and derivatives
Metabolism
asparagine degradation
Amino acid synthesis and interconversion (transamination)

Biological Process

cellular amino acid biosynthetic process
lipid catabolic process

Molecular Function

1-alkyl-2-acetylglycerophosphocholine esterase activity
asparaginase activity
lysophospholipase activity

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000551177
Coding exons: 16
Length: 27083
Individuals with no LoFs: 124273
Homozygous LoFs: 0
Heterozygous LoFs: 143
Defined: 124416
p: 0.000575

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.954	313	364	0.859	0.0000236	3584
Missense (PolyPhen)		116	139.21	0.83329		1394
Synonymous	1.35	146	168	0.868	0.0000120	1237
Loss of Function	0.980	22	27.6	0.798	0.00000144	296

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00066	0.00065	rare
Latino/Admixed American	0.00024	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00078	0.00078	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00094	0.00091	rare
South Asian	0.00016	0.00016	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities.;

Recessive Scores

pRec: 0.117

Intolerance Scores

LoFtool: 0.595
RVIS EVS: 0.56
RVIS percentile EVS: 81.71

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.289

Gene Damage Prediction

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