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 | IBA57-AS1 MRPL55 OBSCN C1orf145 IBA57 MIR3620 GUK1 GJC2 ARF1 C1orf35 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | HIST3H2A OBSCN MIR4666A LOC100506571 LOC105373289 MIR5008 GJC2 HIST3H3 C1orf35 TRIM11 MRPL55 SNAP47 WNT9A C1orf145 JMJD4 IBA57 GUK1 ARF1 IBA57-AS1 HIST3H2BB WNT3A MIR6742 LOC101060022 RNF187 TRIM17 LOC107985355 LOC101927401 PRSS38 MIR3620 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S15 OBSCN LOC100506571 LOC105373289 RNA5S11 HIST3H3 MRPL55 WNT9A RNA5S17 C1orf145 IBA57 RNA5S16 RNA5S1 RNA5S14 GUK1 ARF1 RNA5S4 HIST3H2BB LOC105373132 RNA5S3 TRIM17 LOC101927401 RNA5S5 MIR3620 HIST3H2A MIR4666A MIR5008 GJC2 C1orf35 TRIM11 RNA5S8 RNA5S2 SNAP47 RNA5S13 JMJD4 RNA5S12 RHOU RNA5S6 BTNL10 IBA57-AS1 RNA5S10 WNT3A MIR6742 RNA5S7 LOC101060022 RNF187 LOC107985355 DUSP5P1 PRSS38 RNA5S9 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | IBA57-AS1 HIST3H2A HIST3H2BB OBSCN MIR4666A GJC2 HIST3H3 MIR6742 TRIM11 TRIM17 LOC101927401 C1orf145 IBA57 GUK1 |
nsv952138 | Chr.1:228207400 - 228217099 on Build GRCh38 | Deletion | OBSCN C1orf145 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | HIST3H2A OBSCN MIR4666A LOC100506571 MIR5008 GJC2 HIST3H3 C1orf35 TRIM11 MRPL55 WNT9A C1orf145 IBA57 GUK1 ARF1 IBA57-AS1 HIST3H2BB WNT3A MIR6742 LOC101060022 RNF187 TRIM17 LOC107985355 LOC101927401 MIR3620 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |