ARSK

arylsulfatase family member K, the group of Sulfatases

Basic information

Region (hg38): 5:95555101-95605102

Links

ENSG00000164291 ∙ NCBI:153642 ∙ OMIM:610011 ∙ HGNC:25239 ∙ Uniprot:Q6UWY0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mucopolysaccharidosis, type 10 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Mucopolysaccharidosis, type X	AR	Cardiovascular	The condition can include cardiovascular manifestations, and awareness may allow surveillance and early detection, which may lead to improved management	Biochemical; Cardiovascular;Craniofacial; Musculoskeletal	34916232

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARSK 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						0
missense			36	1		37
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	1	0

Variants in ARSK

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

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

Position	Type	Phenotype	Significance	ClinVar
5-95555309-G-A		not specified	Uncertain significance (Aug 02, 2021)
5-95555342-G-A		not specified	Uncertain significance (Feb 21, 2025)
5-95555355-G-A		not specified	Uncertain significance (Sep 29, 2022)
5-95565998-G-T		not specified	Uncertain significance (Mar 04, 2024)
5-95565999-A-T		not specified	Uncertain significance (Feb 10, 2022)
5-95566121-C-T		Mucopolysaccharidosis, type 10	Pathogenic (Oct 17, 2022)
5-95566122-G-A		not specified	Uncertain significance (Oct 20, 2023)
5-95567871-CT-C		ARSK-related disorder	Likely benign (Jul 22, 2024)
5-95567946-C-G		not specified	Uncertain significance (Jan 04, 2024)
5-95567949-G-C		not specified	Uncertain significance (Dec 04, 2024)
5-95567950-A-G		not specified	Uncertain significance (Dec 09, 2024)
5-95568021-G-T		not specified	Uncertain significance (Jul 26, 2024)
5-95582951-T-C		not specified	Uncertain significance (Apr 20, 2024)
5-95582963-A-C		not specified	Uncertain significance (Jan 23, 2025)
5-95583059-T-A		Mucopolysaccharidosis, type 10	Pathogenic (Oct 17, 2022)
5-95583070-G-C		not specified	Uncertain significance (Jun 11, 2021)
5-95583073-A-G		not specified	Uncertain significance (Jan 22, 2025)
5-95583085-G-A		not specified	Uncertain significance (Jun 02, 2023)
5-95583107-G-C		not specified	Uncertain significance (Jun 07, 2024)
5-95583166-A-G		not specified	Uncertain significance (Feb 06, 2024)
5-95583188-G-C		not specified	Uncertain significance (Oct 07, 2024)
5-95586575-C-A		not specified	Uncertain significance (Dec 28, 2022)
5-95586673-G-A		not specified	Uncertain significance (Aug 04, 2024)
5-95586683-A-G		not specified	Uncertain significance (May 31, 2023)
5-95586730-C-T		not specified	Uncertain significance (Dec 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARSK	protein_coding	protein_coding	ENST00000380009	8	49991

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.94e-10	0.547	125692	0	56	125748	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.250	291	279	1.04	0.0000136	3513
Missense in Polyphen		116	119.05	0.97437		1518
Synonymous	-0.0500	100	99.4	1.01	0.00000498	1012
Loss of Function	1.24	18	24.6	0.731	0.00000128	304

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000433	0.000423
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000544	0.000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000235	0.000229
Middle Eastern	0.000544	0.000544
South Asian	0.000246	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of lipids;Post-translational protein modification;Metabolism of proteins;The activation of arylsulfatases;Gamma carboxylation, hypusine formation and arylsulfatase activation;Metabolism;Glycosphingolipid metabolism;Sphingolipid metabolism (Consensus)

Intolerance Scores

• loftool: 0.218
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.82

Haploinsufficiency Scores

• pHI: 0.0451
• hipred: N
• hipred_score: 0.492
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.574

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arsk
• Phenotype: homeostasis/metabolism phenotype; pigmentation phenotype; vision/eye phenotype

Gene ontology

• Cellular component: extracellular region;endoplasmic reticulum lumen
• Molecular function: arylsulfatase activity;metal ion binding