Assay Details
Target Gene Details
Entrez Gene ID: | 55709 |
Gene Name: | kelch repeat and BTB domain containing 4 |
Gene Aliases: |
BKLHD4, HSPC252 |
Location: |
Chr.11:47572197-47579015 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KBTBD4 | NM_001318717.1 | NP_001305646.1 | ||
NM_001318718.1 | NP_001305647.1 | |||
NM_001318719.1 | NP_001305648.1 | |||
NM_001318720.1 | NP_001305649.1 | |||
NM_001318721.1 | NP_001305650.1 | |||
NM_001318722.1 | NP_001305651.1 | |||
NM_001318723.1 | NP_001305652.1 | |||
NM_001318724.1 | NP_001305653.1 | |||
NM_016506.6 | NP_057590.3 | |||
NM_018095.5 | NP_060565.4 | |||
XM_017018009.1 | XP_016873498.1 | |||
AF151086.1 | AAF36172.1 | |||
AK001312.1 | BAA91616.1 | |||
AK001749.1 | BAA91880.1 | |||
AK222550.1 | BAD96270.1 | |||
AK222985.1 | ||||
AK225062.1 | ||||
BC002736.2 | AAH02736.1 | |||
BI908078.1 | ||||
DA016320.1 | ||||
DA170281.1 | ||||
DA559313.1 | ||||
DA883418.1 | ||||
DB457928.1 | ||||
HY062454.1 | ||||
HY120885.1 | ||||
HY176105.1 |
Target Gene Details
Entrez Gene ID: | 4722 |
Gene Name: | NADH:ubiquinone oxidoreductase core subunit S3 |
Gene Aliases: |
CI-30 |
Location: |
Chr.11:47579010-47584563 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NDUFS3 | NM_004551.2 | NP_004542.1 | ||
DA893277.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832142 | Chr.11:47496403 - 47659758 on Build GRCh38 | Loss | NDUFS3 C1QTNF4 MTCH2 KBTBD4 PTPMT1 FAM180B AGBL2 CELF1 |
nsv509405 | Chr.11:47571038 - 47663104 on Build GRCh38 | Insertion | NDUFS3 C1QTNF4 MTCH2 KBTBD4 PTPMT1 FAM180B AGBL2 |
nsv825872 | Chr.11:47543873 - 47638778 on Build GRCh38 | Gain | NDUFS3 C1QTNF4 MTCH2 KBTBD4 PTPMT1 FAM180B CELF1 |
nsv314 | Chr.11:47540012 - 47584704 on Build GRCh38 | Deletion | NDUFS3 KBTBD4 PTPMT1 CELF1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |