ASPG

asparaginase, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 14:104085685-104115582

Previous symbols: [ "C14orf76" ]

Links

ENSG00000166183 ∙ NCBI:374569 ∙ OMIM:618472 ∙ HGNC:20123 ∙ Uniprot:Q86U10 ∙ 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 ASPG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASPG gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			31	5		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	6	1

Variants in ASPG

This is a list of pathogenic ClinVar variants found in the ASPG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-104085789-C-T		not specified	Likely benign (Jul 27, 2021)
14-104092684-T-A		not specified	Uncertain significance (Feb 23, 2023)
14-104092694-G-C		not specified	Uncertain significance (May 27, 2022)
14-104092705-G-A		not specified	Likely benign (Apr 26, 2024)
14-104092711-G-A			Likely benign (May 18, 2018)
14-104092713-G-A		not specified	Uncertain significance (Apr 07, 2022)
14-104093501-C-T		not specified	Uncertain significance (Mar 28, 2024)
14-104093543-C-G		not specified	Uncertain significance (Sep 01, 2021)
14-104093561-A-G		not specified	Uncertain significance (May 10, 2024)
14-104095540-G-A		not specified	Likely benign (Aug 13, 2021)
14-104095540-G-C		not specified	Uncertain significance (Jul 17, 2023)
14-104095550-A-G		not specified	Uncertain significance (Dec 18, 2023)
14-104095598-C-T		not specified	Uncertain significance (Mar 11, 2022)
14-104097575-A-C		not specified	Uncertain significance (Sep 16, 2021)
14-104097578-G-A		not specified	Uncertain significance (May 02, 2024)
14-104097585-G-A		not specified	Uncertain significance (Aug 02, 2021)
14-104098869-A-G		not specified	Uncertain significance (Feb 17, 2022)
14-104098913-C-T		not specified	Uncertain significance (Feb 10, 2022)
14-104098932-G-C		not specified	Uncertain significance (Dec 20, 2023)
14-104098953-T-C		not specified	Uncertain significance (Dec 17, 2023)
14-104103580-C-T		not specified	Uncertain significance (Jul 11, 2023)
14-104103591-C-T			Benign (Feb 22, 2018)
14-104104307-C-T		not specified	Uncertain significance (Oct 06, 2021)
14-104104323-C-G		not specified	Uncertain significance (Jun 07, 2024)
14-104104401-G-A		not specified	Likely benign (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASPG	protein_coding	protein_coding	ENST00000551177	16	27083

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.18e-13	0.211	124273	0	143	124416	0.000575

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.954	313	364	0.859	0.0000236	3584
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000897	0.000882
Ashkenazi Jewish	0.00	0.00
East Asian	0.000780	0.000779
Finnish	0.0000467	0.0000464
European (Non-Finnish)	0.000939	0.000915
Middle Eastern	0.000780	0.000779
South Asian	0.000164	0.000163
Other	0.000333	0.000331

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities.
• Pathway: Metabolism of amino acids and derivatives;Metabolism;asparagine degradation;Amino acid synthesis and interconversion (transamination) (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.595
• rvis_EVS: 0.56
• rvis_percentile_EVS: 81.71

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.207
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.289

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aspg

Gene ontology

• Biological process: cellular amino acid biosynthetic process;lipid catabolic process
• Cellular component: cytosol
• Molecular function: 1-alkyl-2-acetylglycerophosphocholine esterase activity;asparaginase activity;lysophospholipase activity