Hs05574977_cn

• Gene Symbol: DESI1
• Assay Reference Genome Location: Chr.22:41606424 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 27351
• Gene Name: desumoylating isopeptidase 1
• Gene Aliases: D15Wsu75e, DESI2, DJ347H13.4, DeSI-1, FAM152B, PPPDE2
• Location: Chr.22:41598028-41621077 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DESI1	NM_015704.2			NP_056519.1
	XM_005261571.4			XP_005261628.1
	AF038183.1
	AK090725.1
	BC093956.1			AAH93956.1
	BC112179.1			AAI12180.1
	BX403547.2
	CR456458.1			CAG30344.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1055166	Chr.22:41536399 - 41622240 on Build GRCh38	Gain	PMM1 DESI1 XRCC6 CSDC2 POLR3H LOC105373044
nsv834209	Chr.22:41563516 - 41746056 on Build GRCh38	Loss	PMM1 SNU13 DESI1 XRCC6 C22orf46 CSDC2 MEI1
nsv524585	Chr.22:40993505 - 41794305 on Build GRCh38	Loss	ACO2 CHADL PHF5A DESI1 MIR1281 SNORD140 XRCC6 EP300-AS1 POLR3H L3MBTL2 TEF PMM1 SNU13 MIR6889 RANGAP1 ZC3H7B TOB2 C22orf46 CSDC2 LOC100996598 MEI1 EP300 LOC105373044

More Information

Additional Information:

For this assay, SNP(s) [rs111679504] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

cysteine protease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

peptidase activity
identical protein binding