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 Intron 9 |
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 | MRPL55 C1orf35 MIR3620 C1orf145 IBA57 GUK1 OBSCN ARF1 GJC2 IBA57-AS1 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | C1orf145 RNF187 SNAP47 PRSS38 GUK1 HIST3H3 LOC101927401 GJC2 LOC105373289 MIR4666A MRPL55 C1orf35 TRIM17 LOC107985355 WNT9A IBA57-AS1 WNT3A MIR3620 IBA57 OBSCN MIR5008 TRIM11 LOC101060022 HIST3H2BB HIST3H2A ARF1 LOC100506571 MIR6742 JMJD4 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNF187 RNA5S16 RNA5S4 HIST3H3 GJC2 LOC105373289 TRIM17 RNA5S11 LOC107985355 RNA5S15 RNA5S13 IBA57-AS1 WNT3A RNA5S14 OBSCN TRIM11 RNA5S5 RNA5S9 RNA5S3 HIST3H2A ARF1 RNA5S6 RHOU LOC105373132 C1orf145 RNA5S17 SNAP47 PRSS38 RNA5S2 GUK1 LOC101927401 MIR4666A RNA5S8 MRPL55 C1orf35 WNT9A MIR3620 IBA57 BTNL10 MIR5008 RNA5S1 RNA5S10 LOC101060022 DUSP5P1 HIST3H2BB RNA5S12 RNA5S7 LOC100506571 MIR6742 JMJD4 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | C1orf145 IBA57 GUK1 OBSCN HIST3H3 TRIM11 LOC101927401 GJC2 MIR4666A TRIM17 HIST3H2BB HIST3H2A MIR6742 IBA57-AS1 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | C1orf145 RNF187 GUK1 HIST3H3 LOC101927401 GJC2 MIR4666A MRPL55 C1orf35 TRIM17 LOC107985355 WNT9A IBA57-AS1 WNT3A MIR3620 IBA57 OBSCN MIR5008 TRIM11 LOC101060022 HIST3H2BB HIST3H2A ARF1 LOC100506571 MIR6742 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |