Assay Details
Target Gene Details
Entrez Gene ID: | 55626 |
Gene Name: | autophagy and beclin 1 regulator 1 |
Gene Aliases: |
DCAF3, WDR94 |
Location: |
Chr.11:46396412-46594069 on Build GRCh38 |
Assay Gene Location: | Within Intron 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AMBRA1 | NM_001267782.1 | NP_001254711.1 | ||
NM_001267783.1 | NP_001254712.1 | |||
NM_001300731.1 | NP_001287660.1 | |||
NM_017749.3 | NP_060219.2 | |||
XM_005253009.3 | XP_005253066.1 | |||
XM_005253011.3 | XP_005253068.1 | |||
XM_005253014.3 | XP_005253071.1 | |||
XM_006718259.2 | XP_006718322.1 | |||
XM_006718260.2 | XP_006718323.1 | |||
XM_017018007.1 | XP_016873496.1 | |||
AB051523.1 | ||||
AK000301.1 | BAA91067.1 | |||
AK023197.1 | BAB14457.1 | |||
AK057896.1 | ||||
AK302808.1 | ||||
AK304530.1 | ||||
AL834190.1 | ||||
BC045609.1 | AAH45609.1 | |||
DQ870924.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3626186 | Chr.11:46392885 - 46412875 on Build GRCh38 | Loss | AMBRA1 |
esv3626185 | Chr.11:46361673 - 46411056 on Build GRCh38 | Loss | CHRM4 AMBRA1 MIR4688 DGKZ MDK |
nsv309 | Chr.11:46378128 - 46418953 on Build GRCh38 | Deletion | CHRM4 AMBRA1 DGKZ MDK |
esv3626183 | Chr.11:46227941 - 46507334 on Build GRCh38 | Gain | CHRM4 CREB3L1 RPS10P19 AMBRA1 MIR3160-1 MIR3160-2 MIR4688 DGKZ MDK |
nsv554202 | Chr.11:46312688 - 46448350 on Build GRCh38 | Loss | CHRM4 CREB3L1 RPS10P19 AMBRA1 MIR4688 DGKZ MDK |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |