ARSH

protein-coding

arylsulfatase family member H, the group of Sulfatases

Gene summary

Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_001011719.2

Inheritance

—

ClinVar variants

U:97B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chrX:3,006,546-3,034,111

External References & Databases

Ensembl (ENSG00000205667)

Transcript & Mutation Effects

hg38 • Region Span ~27.6 kb

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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 ARSH variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 69

not providedTotal: 16

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001011719.2. 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			6 clinvar	2 clinvar	1 clinvar	9
missense			79 clinvar	5 clinvar	6 clinvar	90
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	97	7	7	111

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001011719.2	RefSeq	NP_001011719.1	9	MANE Select
ENST00000381130.3	Ensembl	ENSP00000370522.3	9	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Post-translational protein modification
Metabolism of proteins
The activation of arylsulfatases
Gamma carboxylation, hypusine formation and arylsulfatase activation

Molecular Function

arylsulfatase activity
metal ion binding

Cellular Component

endoplasmic reticulum lumen
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381130
Coding exons: 9
Length: 26959
Individuals with no LoFs: 125676
Homozygous LoFs: 21
Heterozygous LoFs: 48
Defined: 125745
p: 0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.314	216	229	0.942	0.0000185	3653
Missense (PolyPhen)		82	79.145	1.0361		1312
Synonymous	0.876	82	92.7	0.884	0.00000800	1114
Loss of Function	0.478	12	13.9	0.862	9.37e-7	239

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00084	0.00068	rare
Latino/Admixed American	0.00018	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00033	0.00023	rare
South Asian	0.0013	0.00075	notable
Other	0.00022	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.223
RVIS EVS: 1.45
RVIS percentile EVS: 95.12

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0926

Gene Damage Prediction

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