Hs01354598_cn

• Gene Symbol: DESI1
• Assay Reference Genome Location: Chr.22:41601185 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: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DESI1	NM_015704.2			NP_056519.1
	AF038183.1
	AK090725.1
	BC093956.1			AAH93956.1
	BC112179.1			AAI12180.1
	BX403547.2
	BX478162.1
	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	LOC105373044 XRCC6 CSDC2 PMM1 POLR3H DESI1
nsv834209	Chr.22:41563516 - 41746056 on Build GRCh38	Loss	MEI1 XRCC6 CSDC2 PMM1 SNU13 C22orf46 DESI1
nsv3639	Chr.22:41571809 - 41602871 on Build GRCh38	Insertion	CSDC2 PMM1 DESI1
nsv524585	Chr.22:40993505 - 41794305 on Build GRCh38	Loss	LOC105373044 EP300 MEI1 XRCC6 MIR6889 LOC100996598 CSDC2 MIR1281 SNORD140 EP300-AS1 PMM1 L3MBTL2 C22orf46 RANGAP1 PHF5A CHADL TOB2 ZC3H7B SNU13 TEF POLR3H DESI1 ACO2

More Information

Additional Information:

For this assay, SNP(s) [rs113584423] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cysteine protease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

peptidase activity
identical protein binding