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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228218051 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03385285_cn
Size
Availability Made To Order
Catalog # 4400291
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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 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
OBSCN NM_001098623.2 NP_001092093.2
NM_001271223.2 NP_001258152.2
NM_052843.3 NP_443075.3
XM_005273287.4 XP_005273344.1
XM_005273291.4 XP_005273348.1
XM_005273298.4 XP_005273355.1
XM_005273307.4 XP_005273364.1
XM_006711822.3 XP_006711885.1
XM_006711823.3 XP_006711886.1
XM_006711827.3 XP_006711890.1
XM_006711829.3 XP_006711892.1
XM_011544297.2 XP_011542599.1
XM_011544299.2 XP_011542601.1
XM_017002443.1 XP_016857932.1
XM_017002444.1 XP_016857933.1
XM_017002445.1 XP_016857934.1
XM_017002446.1 XP_016857935.1
XM_017002447.1 XP_016857936.1
XM_017002448.1 XP_016857937.1
XM_017002449.1 XP_016857938.1
XM_017002450.1 XP_016857939.1
XM_017002451.1 XP_016857940.1
XM_017002452.1 XP_016857941.1
XM_017002453.1 XP_016857942.1
XM_017002454.1 XP_016857943.1
XM_017002455.1 XP_016857944.1
XM_017002456.1 XP_016857945.1
XM_017002457.1 XP_016857946.1
XM_017002458.1 XP_016857947.1
XM_017002459.1 XP_016857948.1
XM_017002460.1 XP_016857949.1
XM_017002461.1 XP_016857950.1
XM_017002462.1 XP_016857951.1
XM_017002463.1 XP_016857952.1
XM_017002464.1 XP_016857953.1
XM_017002465.1 XP_016857954.1
XM_017002466.1 XP_016857955.1
XM_017002467.1 XP_016857956.1
XM_017002468.1 XP_016857957.1
XM_017002469.1 XP_016857958.1
XM_017002470.1 XP_016857959.1
XM_017002471.1 XP_016857960.1
XM_017002472.1 XP_016857961.1
XM_017002473.1 XP_016857962.1
AJ002535.1 CAC44768.1

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 OBSCN MIR3620 GUK1 IBA57-AS1 TRIM11 SNAP47 MIR6742 LOC100506571 MRPL55 JMJD4 MIR5008 HIST3H2A IBA57 PRSS38 LOC105373289 LOC101060022 ARF1 RNF187 WNT3A GJC2 HIST3H3 C1orf35 LOC101927401 LOC107985355 TRIM17 HIST3H2BB WNT9A MIR4666A C1orf145
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion OBSCN MRPL55 MIR3620 GUK1 IBA57 IBA57-AS1 ARF1 GJC2 C1orf145 C1orf35
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain IBA57-AS1 RNA5S2 RNA5S6 RNA5S11 RNA5S17 SNAP47 MIR6742 RNA5S8 MRPL55 JMJD4 HIST3H2A PRSS38 RNA5S7 RHOU HIST3H3 C1orf35 LOC101927401 RNA5S9 RNA5S12 RNA5S16 WNT9A MIR4666A OBSCN DUSP5P1 RNA5S13 RNA5S15 MIR3620 GUK1 LOC105373132 TRIM11 RNA5S14 RNA5S3 LOC100506571 MIR5008 IBA57 LOC105373289 LOC101060022 ARF1 RNF187 WNT3A GJC2 LOC107985355 RNA5S1 RNA5S10 BTNL10 RNA5S4 TRIM17 HIST3H2BB RNA5S5 C1orf145
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss OBSCN LOC101927401 GUK1 IBA57-AS1 TRIM11 MIR6742 TRIM17 HIST3H2A IBA57 HIST3H2BB GJC2 MIR4666A C1orf145 HIST3H3
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss OBSCN MIR3620 GUK1 IBA57-AS1 TRIM11 MIR6742 LOC100506571 MRPL55 MIR5008 HIST3H2A IBA57 LOC101060022 ARF1 RNF187 WNT3A GJC2 HIST3H3 C1orf35 LOC101927401 LOC107985355 TRIM17 HIST3H2BB WNT9A MIR4666A C1orf145

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