Hs02272250_cn

• Gene Symbol: USP48
• Assay Reference Genome Location: Chr.1:21690022 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 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USP48	NM_032236.5	24	3199	NP_115612.4
	XM_005246009.2	23	3047	XP_005246066.1
	XM_006710951.2	24	3197	XP_006711014.2
	XM_006710955.3	23	2981	XP_006711018.1
	XM_011542262.2	24	3093	XP_011540564.1
	XM_011542263.2	24	3093	XP_011540565.1
	XM_011542264.1	23	2793	XP_011540566.1
	XM_011542265.2	25	3759	XP_011540567.1
	XM_011542267.2	24	3112	XP_011540569.1
	XM_011542268.2	16	1812	XP_011540570.1
	XM_017002495.1	23	3002	XP_016857984.1
	XM_017002497.1	16	1857	XP_016857986.1
	AF502942.1	24	3101	AAP30832.1
	AK000110.1	4	693	BAA90950.1
	AK002190.1	8	830	BAA92128.1
	AK026707.1	12	1707	BAB15533.1
	AK226150.1	23	2997
	AK315005.1	24	2979
	AL834375.1	9	892	CAD39038.1
	BC007326.2			AAH07326.2
	BC013567.1	8	877	AAH13567.1
	BC104896.1	23	2839	AAI04897.1
	BC143343.1	23	2839
	BC143349.1	24	2995
	BC143354.1	24	3031

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