Assay Details
Target Gene Details
Entrez Gene ID: | 1951 |
Gene Name: | cadherin EGF LAG seven-pass G-type receptor 3 |
Gene Aliases: |
ADGRC3, CDHF11, EGFL1, FMI1, HFMI1, MEGF2, RESDA1 |
Location: |
Chr.3:48636463-48662915 on Build GRCh38 |
Assay Gene Location: | Within Exon 34 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CELSR3 | NM_001407.2 | 34 | 10061 | NP_001398.2 |
AB011536.1 | 24 | 3937 | BAA32464.1 | |
AF231023.1 | 34 | 10061 | AAF61929.1 | |
AK299868.1 | 5 | 1297 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834685 | Chr.3:48527576 - 48708341 on Build GRCh38 | Loss | SNORA94 IP6K2 TMEM89 PFKFB4 COL7A1 NCKIPSD CELSR3 UCN2 MIR6824 MIR6823 MIR711 UQCRC1 CELSR3-AS1 MIR4793 SLC26A6 |
nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss | SNORA94 TMEM89 PFKFB4 COL7A1 NCKIPSD CELSR3 UCN2 MIR6824 SHISA5 MIR6823 MIR711 UQCRC1 CELSR3-AS1 MIR4793 SLC26A6 |
nsv590247 | Chr.3:48624552 - 48764496 on Build GRCh38 | Loss | IP6K2 MIR6824 CELSR3-AS1 MIR4793 SLC26A6 NCKIPSD PRKAR2A CELSR3 |
nsv818138 | Chr.3:48573492 - 48694054 on Build GRCh38 | Gain | SNORA94 IP6K2 TMEM89 MIR6824 COL7A1 MIR711 UQCRC1 CELSR3-AS1 MIR4793 SLC26A6 NCKIPSD CELSR3 |
nsv590246 | Chr.3:48590581 - 48683607 on Build GRCh38 | Loss | SNORA94 TMEM89 MIR6824 COL7A1 UQCRC1 CELSR3-AS1 MIR4793 SLC26A6 NCKIPSD CELSR3 |
nsv954485 | Chr.3:48619168 - 48663967 on Build GRCh38 | Deletion | TMEM89 MIR6824 CELSR3-AS1 MIR4793 SLC26A6 NCKIPSD CELSR3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |