Assay Details
Target Gene Details
Entrez Gene ID: | 387885 |
Gene Name: | cilia and flagella associated protein 73 |
Gene Aliases: |
CCDC42B, MIA2 |
Location: |
Chr.12:113149162-113159276 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFAP73 | NM_001144872.1 | NP_001138344.1 |
Target Gene Details
Entrez Gene ID: | 79039 |
Gene Name: | DEAD-box helicase 54 |
Gene Aliases: |
DP97 |
Location: |
Chr.12:113157173-113185479 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DDX54 | NM_001111322.1 | 20 | 4231 | NP_001104792.1 |
NM_024072.3 | 20 | 4228 | NP_076977.3 | |
AF478457.1 | 20 | 4231 | AAL85336.1 | |
BC005848.2 | 20 | 4149 | AAH05848.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519540 | Chr.12:113042705 - 113459599 on Build GRCh38 | Gain+Loss | TPCN1 MIR7106 SDSL MIR6762 SLC8B1 PLBD2 DTX1 SDS DDX54 CFAP73 RASAL1 IQCD RITA1 |
dgv2884n54 | Chr.12:113115603 - 113166364 on Build GRCh38 | Loss | DDX54 CFAP73 MIR7106 RASAL1 |
esv3892265 | Chr.12:113099321 - 113527932 on Build GRCh38 | Gain | LHX5 TPCN1 MIR7106 SDSL LHX5-AS1 MIR6762 SLC8B1 PLBD2 SDS DDX54 CFAP73 RASAL1 IQCD RITA1 |
esv3630792 | Chr.12:112988703 - 113838810 on Build GRCh38 | Gain | LHX5 LINC01234 TPCN1 MIR7106 SDSL LHX5-AS1 OAS2 MIR6762 SLC8B1 PLBD2 DTX1 SDS DDX54 RBM19 CFAP73 RASAL1 IQCD RITA1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |