Hs05772246_cn

• Gene Symbol: DESI2
• Assay Reference Genome Location: Chr.1:244657148 on build GRCh38
• Cytoband: 1q44

Target Gene Details

• Entrez Gene ID: 51029
• Gene Name: desumoylating isopeptidase 2
• Gene Aliases: C1orf121, CGI-146, DESI, DESI1, DeSI-2, FAM152A, PNAS-4, PPPDE1
• Location: Chr.1:244653048-244709034 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DESI2	NM_001297746.1			NP_001284675.1
	NM_016076.4			NP_057160.2
	NR_123735.1
	NR_123736.1
	XM_011544203.2			XP_011542505.1
	XM_011544206.2			XP_011542508.1
	AF151904.1			AAD34141.1
	AF229834.1			AAF42919.1
	AK314664.1
	BC004485.2			AAH04485.1
	BI459676.1
	CB854052.1
	CN303012.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3578521	Chr.1:244654938 - 244675197 on Build GRCh38	Loss	DESI2
nsv528017	Chr.1:244618430 - 244675520 on Build GRCh38	Gain	C1orf101 DESI2
nsv5154	Chr.1:244630433 - 244661214 on Build GRCh38	Insertion	C1orf101 DESI2

More Information

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

Panther Classification:

Molecular Function -

cysteine protease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

peptidase activity