Assay Details
Target Gene Details
Entrez Gene ID: | 84033 |
Gene Name: | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
Gene Aliases: |
ARHGEF30, UNC89 |
Location: |
Chr.1:228208013-228381431 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160102 | Chr.1:228081212 - 228239280 on Build GRCh38 | Deletion | MIR3620 IBA57 GJC2 GUK1 ARF1 C1orf145 MRPL55 C1orf35 IBA57-AS1 OBSCN |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | LOC100506571 WNT3A WNT9A HIST3H3 LOC105373289 LOC107985355 MIR3620 GJC2 HIST3H2A C1orf35 IBA57-AS1 TRIM11 LOC101927401 TRIM17 IBA57 GUK1 ARF1 MRPL55 MIR6742 MIR4666A HIST3H2BB PRSS38 JMJD4 MIR5008 C1orf145 RNF187 LOC101060022 OBSCN SNAP47 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | BTNL10 RNA5S4 RNA5S8 RNA5S12 WNT3A WNT9A RNA5S2 HIST3H3 LOC107985355 MIR3620 RNA5S5 GJC2 TRIM11 TRIM17 LOC105373132 IBA57 GUK1 ARF1 RNA5S14 MIR4666A HIST3H2BB JMJD4 C1orf145 RNA5S17 RNA5S11 LOC101060022 SNAP47 RNA5S13 RNA5S10 RNA5S1 LOC100506571 RNA5S15 LOC105373289 RNA5S7 HIST3H2A C1orf35 RNA5S6 IBA57-AS1 RNA5S3 LOC101927401 RNA5S9 DUSP5P1 MRPL55 MIR6742 RHOU PRSS38 RNA5S16 MIR5008 RNF187 OBSCN |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | LOC101927401 TRIM17 IBA57 GUK1 MIR6742 HIST3H3 MIR4666A HIST3H2BB GJC2 HIST3H2A C1orf145 IBA57-AS1 TRIM11 OBSCN |
nsv952138 | Chr.1:228207400 - 228217099 on Build GRCh38 | Deletion | C1orf145 OBSCN |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | LOC100506571 WNT3A WNT9A HIST3H3 LOC107985355 MIR3620 GJC2 HIST3H2A C1orf35 IBA57-AS1 TRIM11 LOC101927401 TRIM17 IBA57 GUK1 ARF1 MRPL55 MIR6742 MIR4666A HIST3H2BB MIR5008 C1orf145 RNF187 LOC101060022 OBSCN |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |