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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DESI1 | NM_015704.2 | 6 | 760 | NP_056519.1 |
AF038183.1 | 6 | 718 | ||
AK090725.1 | ||||
BC093956.1 | AAH93956.1 | |||
BC112179.1 | AAI12180.1 | |||
BX403547.2 | 6 | 798 | ||
BX478162.1 | 1 | 106 | ||
CR456458.1 | 6 | 615 | 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 PMM1 DESI1 LOC105373044 XRCC6 CSDC2 |
nsv834209 | Chr.22:41563516 - 41746056 on Build GRCh38 | Loss | PMM1 SNU13 MEI1 DESI1 C22orf46 XRCC6 CSDC2 |
nsv3639 | Chr.22:41571809 - 41602871 on Build GRCh38 | Insertion | PMM1 DESI1 CSDC2 |
nsv524585 | Chr.22:40993505 - 41794305 on Build GRCh38 | Loss | POLR3H PMM1 TEF DESI1 CHADL ZC3H7B LOC105373044 L3MBTL2 CSDC2 RANGAP1 LOC100996598 SNORD140 EP300-AS1 PHF5A ACO2 MIR1281 TOB2 SNU13 MEI1 C22orf46 XRCC6 EP300 MIR6889 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |