Hs01690187_cn

• Gene Symbol: USP48
• Assay Reference Genome Location: Chr.1:21678625 on build GRCh38
• Cytoband: 1p36.12

Target Gene Details

• Entrez Gene ID: 84196
• Gene Name: ubiquitin specific peptidase 48
• Gene Aliases: RAP1GA1, USP31
• Location: Chr.1:21678298-21783620 on Build GRCh38
• Assay Gene Location: Within Exon 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USP48	NM_032236.5	27	4138	NP_115612.4
	AF502942.1			AAP30832.1
	AI248244.1	1	328
	AK002190.1			BAA92128.1
	BQ027743.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834391	Chr.1:21523440 - 21723989 on Build GRCh38	Loss	USP48 ALPL RAP1GAP
esv34155	Chr.1:21367084 - 21840123 on Build GRCh38	Loss	HSPG2 NBPF3 USP48 LDLRAD2 ALPL RAP1GAP
nsv5854	Chr.1:21676656 - 21711616 on Build GRCh38	Insertion	USP48

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cysteine protease

Gene Ontology Categories:

Process(es)

ubiquitin-dependent protein catabolic process
protein deubiquitination

Function(s)

thiol-dependent ubiquitin-specific protease activity