Hs07513947_cn

• Gene Symbol: ATXN3L
• Assay Reference Genome Location: Chr.X:13320198 on build GRCh38
• Cytoband: Xp22.2

Target Gene Details

• Entrez Gene ID: 92552
• Gene Name: ataxin 3 like
• Gene Aliases: MJDL
• Location: Chr.X:13318647-13320399 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATXN3L	NM_001135995.1	1	202	NP_001129467.1
	AK302365.1	1	204
	DB059638.1	1	204
	DB460385.1	1	212

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3576773	Chr.X:13071156 - 13600068 on Build GRCh38	Gain	ATXN3L GPX1P1 MIR6086 GS1-600G8.3 EGFL6 LOC105373133 LINC01203

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
protein deubiquitination

Function(s)

thiol-dependent ubiquitin-specific protease activity
omega peptidase activity