Hs03829649_cn

• Gene Symbol: USP30
• Assay Reference Genome Location: Chr.12:109023041 on build GRCh38
• Cytoband: 12q24.11

Target Gene Details

• Entrez Gene ID: 84749
• Gene Name: ubiquitin specific peptidase 30
• Gene Aliases: -
• Location: Chr.12:109023089-109088026 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USP30	NM_001301175.1			NP_001288104.1
	AK097830.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422361	Chr.12:108792678 - 109118360 on Build GRCh38	Duplication	USP30 USP30-AS1 DAO UNG SVOP SSH1 MIR619 ALKBH2 ACACB

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cysteine protease, protease, protein modifying enzyme

Gene Ontology Categories:

Process(es)

mitophagy
ubiquitin-dependent protein catabolic process
mitochondrial fusion
protein deubiquitination
protein K11-linked deubiquitination
protein K6-linked deubiquitination

Function(s)

cysteine-type endopeptidase activity
thiol-dependent ubiquitin-specific protease activity