Assay Details
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 Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DESI1 | NM_015704.2 | 5 | 561 | NP_056519.1 |
XM_005261571.4 | 5 | 581 | XP_005261628.1 | |
AF038183.1 | 5 | 519 | ||
AK090725.1 | ||||
BC093956.1 | 5 | 418 | AAH93956.1 | |
BC112179.1 | 5 | 418 | AAI12180.1 | |
BX403547.2 | 5 | 600 | ||
CR456458.1 | 5 | 416 | 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 | POLR3H LOC105373044 PMM1 DESI1 XRCC6 CSDC2 |
nsv834209 | Chr.22:41563516 - 41746056 on Build GRCh38 | Loss | PMM1 DESI1 MEI1 SNU13 XRCC6 C22orf46 CSDC2 |
nsv524585 | Chr.22:40993505 - 41794305 on Build GRCh38 | Loss | L3MBTL2 LOC105373044 TEF RANGAP1 SNORD140 PMM1 ZC3H7B XRCC6 LOC100996598 CHADL PHF5A CSDC2 POLR3H ACO2 TOB2 EP300 DESI1 MEI1 SNU13 EP300-AS1 MIR1281 C22orf46 MIR6889 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |