ASRGL1

asparaginase and isoaspartyl peptidase 1

Basic information

Region (hg38): 11:62337448-62393412

Links

ENSG00000162174 ∙ NCBI:80150 ∙ OMIM:609212 ∙ HGNC:16448 ∙ Uniprot:Q7L266 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• inherited retinal dystrophy (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ASRGL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASRGL1 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			2	63	7	72
missense			120	3	1	124
nonsense			2			2
start loss						0
frameshift			6			6
inframe indel			2			2
splice donor/acceptor (+/-2bp)			1			1
splice region			6	4	2	12
non coding			1	25	2	28
Total	0	0	134	91	10

Variants in ASRGL1

This is a list of pathogenic ClinVar variants found in the ASRGL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-62337969-T-C		ASRGL1-related disorder	Benign (Nov 04, 2019)
11-62337981-A-G			Uncertain significance (Jun 20, 2022)
11-62337990-G-A		not specified	Uncertain significance (Jul 07, 2023)
11-62337993-G-A			Uncertain significance (Mar 04, 2023)
11-62337998-C-T			Likely benign (Mar 28, 2022)
11-62338001-C-T			Benign (Jan 24, 2024)
11-62338004-C-T			Likely benign (Feb 10, 2022)
11-62338007-C-T			Likely benign (Jan 17, 2024)
11-62338008-G-A			Uncertain significance (Sep 02, 2021)
11-62338011-G-T		not specified	Uncertain significance (Mar 22, 2023)
11-62338014-G-A			Uncertain significance (Jan 19, 2021)
11-62338024-C-G			Uncertain significance (Jun 22, 2022)
11-62338027-A-G		not specified	Uncertain significance (May 08, 2024)
11-62338033-G-A		not specified	Uncertain significance (Dec 13, 2023)
11-62338033-G-T			Uncertain significance (Nov 25, 2023)
11-62338044-G-A			Uncertain significance (Sep 24, 2021)
11-62338047-C-T			Uncertain significance (Feb 03, 2022)
11-62338053-G-A			Uncertain significance (Feb 18, 2022)
11-62338053-G-T			Uncertain significance (Oct 10, 2023)
11-62338055-C-T			Uncertain significance (Feb 05, 2022)
11-62338059-G-A			Uncertain significance (Apr 08, 2021)
11-62338062-A-G		not specified	Uncertain significance (Apr 06, 2024)
11-62338073-C-T			Likely benign (Aug 10, 2023)
11-62338073-C-CG			Uncertain significance (Oct 10, 2021)
11-62338074-G-A		ASRGL1-related disorder	Benign (Dec 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASRGL1	protein_coding	protein_coding	ENST00000415229	6	55963

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000276	0.554	125687	0	61	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.203	177	185	0.958	0.0000104	1980
Missense in Polyphen		73	79.011	0.92392		781
Synonymous	-0.388	80	75.7	1.06	0.00000493	634
Loss of Function	0.674	8	10.3	0.774	4.32e-7	141

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000282	0.000275
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000398	0.000396
Middle Eastern	0.000435	0.000435
South Asian	0.0000709	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L- Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine. {ECO:0000269|PubMed:19839645}.
• Pathway: Ammonia Recycling;Hypoacetylaspartia;Aspartate Metabolism;Canavan Disease;Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism;Metabolism of amino acids and derivatives;Phenylalanine and tyrosine catabolism;Metabolism;asparagine degradation (Consensus)

Recessive Scores

• pRec: 0.278

Intolerance Scores

• loftool: 0.145
• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.0944
• hipred: N
• hipred_score: 0.300
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0643

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asrgl1

Zebrafish Information Network

• Gene name: asrgl1
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: deformed

Gene ontology

• Biological process: proteolysis;L-phenylalanine catabolic process;asparagine catabolic process via L-aspartate;protein maturation
• Cellular component: photoreceptor inner segment;nucleus;cytoplasm;cytosol
• Molecular function: N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity;asparaginase activity;beta-aspartyl-peptidase activity;hydrolase activity