Assay Details
Target Gene Details
Entrez Gene ID: | 101927401 |
Gene Name: | MAGE-like protein 2 |
Gene Aliases: |
- |
Location: |
Chr.1:228360893-228369935 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LOC101927401 | XM_011544350.2 | XP_011542652.1 | ||
XM_017003091.1 | XP_016858580.1 | |||
XM_017003092.1 | XP_016858581.1 |
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 95 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | GJC2 MIR5008 WNT3A SNAP47 PRSS38 HIST3H3 ARF1 LOC105373289 WNT9A MIR3620 IBA57 LOC100506571 LOC101060022 C1orf145 MIR6742 RNF187 IBA57-AS1 JMJD4 HIST3H2BB TRIM11 LOC107985355 C1orf35 LOC101927401 MRPL55 TRIM17 GUK1 OBSCN MIR4666A HIST3H2A |
nsv1013500 | Chr.1:228271433 - 228713854 on Build GRCh38 | Gain | RNA5S9 RNA5S7 DUSP5P1 HIST3H3 RNA5S12 RNA5S17 RNA5S16 RNA5S15 RNA5S14 RNA5S8 RNA5S1 MIR6742 RNA5S11 RNA5S2 RNF187 HIST3H2BB LOC105373132 RNA5S6 TRIM11 RNA5S4 RNA5S5 RNA5S3 RHOU LOC101927401 TRIM17 RNA5S10 BTNL10 RNA5S13 OBSCN MIR4666A HIST3H2A |
nsv517545 | Chr.1:228268446 - 228498298 on Build GRCh38 | Loss | MIR6742 LOC101927401 RNF187 TRIM17 HIST3H2BB TRIM11 OBSCN HIST3H3 MIR4666A HIST3H2A |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | GJC2 RNA5S9 WNT3A RNA5S7 PRSS38 HIST3H3 ARF1 RNA5S12 LOC105373289 RNA5S17 MIR3620 RNA5S15 LOC100506571 LOC101060022 RNA5S14 RNA5S8 MIR6742 RNA5S11 RNF187 IBA57-AS1 JMJD4 LOC105373132 LOC101927401 TRIM17 RNA5S10 BTNL10 RNA5S13 MIR4666A HIST3H2A MIR5008 SNAP47 DUSP5P1 WNT9A RNA5S16 IBA57 C1orf145 RNA5S1 RNA5S2 HIST3H2BB RNA5S6 TRIM11 RNA5S4 LOC107985355 RNA5S5 C1orf35 RNA5S3 RHOU MRPL55 GUK1 OBSCN |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | MIR6742 GJC2 IBA57-AS1 HIST3H2BB TRIM11 HIST3H3 LOC101927401 TRIM17 IBA57 GUK1 OBSCN C1orf145 MIR4666A HIST3H2A |
nsv549295 | Chr.1:228276547 - 228413937 on Build GRCh38 | Loss | MIR6742 LOC101927401 TRIM17 TRIM11 OBSCN |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | GJC2 MIR5008 WNT3A HIST3H3 ARF1 WNT9A MIR3620 IBA57 LOC100506571 LOC101060022 C1orf145 MIR6742 RNF187 IBA57-AS1 HIST3H2BB TRIM11 LOC107985355 C1orf35 LOC101927401 MRPL55 TRIM17 GUK1 OBSCN MIR4666A HIST3H2A |
nsv508697 | Chr.1:228352336 - 228434913 on Build GRCh38 | Deletion | MIR6742 LOC101927401 TRIM17 TRIM11 OBSCN HIST3H3 |
nsv952140 | Chr.1:228331100 - 228380999 on Build GRCh38 | Deletion | LOC101927401 OBSCN |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |