Hs00286097_cn

• Gene Symbol: USP48
• Assay Reference Genome Location: Chr.1:21679010 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	3753	NP_115612.4
	XM_005246009.2	26	3601	XP_005246066.1
	XM_006710951.2	27	3751	XP_006711014.2
	XM_006710955.3	26	3535	XP_006711018.1
	XM_011542262.2	27	3647	XP_011540564.1
	XM_011542263.2	27	3647	XP_011540565.1
	XM_011542264.1	26	3347	XP_011540566.1
	XM_011542265.2	28	4313	XP_011540567.1
	XM_011542267.2	27	3666	XP_011540569.1
	XM_011542268.2	19	2366	XP_011540570.1
	XM_017002495.1	26	3556	XP_016857984.1
	XM_017002497.1	19	2411	XP_016857986.1
	AF502942.1	27	3655	AAP30832.1
	AK002190.1	11	1384	BAA92128.1
	AK026707.1	15	2261	BAB15533.1
	AK226150.1	26	3551
	BC007326.2	8	996	AAH07326.2
	BQ027743.1	1	447

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	RAP1GAP USP48 ALPL
esv34155	Chr.1:21367084 - 21840123 on Build GRCh38	Loss	NBPF3 HSPG2 LDLRAD2 RAP1GAP USP48 ALPL
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