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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228227460 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03337453_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 10
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 SNAP47 HIST3H2BB LOC101060022 MIR3620 MIR6742 GUK1 ARF1 GJC2 C1orf35 HIST3H3 TRIM17 HIST3H2A OBSCN RNF187 MIR4666A IBA57-AS1 PRSS38 C1orf145 LOC101927401 TRIM11 WNT9A MIR5008 LOC100506571 JMJD4 MRPL55 IBA57 WNT3A LOC105373289 LOC107985355
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion ARF1 GJC2 IBA57-AS1 C1orf145 C1orf35 MRPL55 IBA57 MIR3620 GUK1 OBSCN
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S9 RNA5S7 RNA5S3 RNA5S11 HIST3H2BB LOC101060022 MIR3620 MIR6742 RNA5S12 GJC2 RNA5S14 TRIM17 HIST3H2A OBSCN RNF187 RNA5S6 RNA5S16 MIR4666A RNA5S13 IBA57-AS1 TRIM11 WNT9A MIR5008 WNT3A RNA5S10 LOC107985355 RNA5S4 RNA5S5 SNAP47 RNA5S1 GUK1 ARF1 RNA5S15 DUSP5P1 C1orf35 HIST3H3 RNA5S8 BTNL10 PRSS38 RHOU C1orf145 LOC101927401 RNA5S2 LOC105373132 LOC100506571 RNA5S17 JMJD4 MRPL55 IBA57 LOC105373289
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss MIR4666A IBA57-AS1 C1orf145 LOC101927401 TRIM11 HIST3H2BB MIR6742 GUK1 GJC2 HIST3H3 IBA57 TRIM17 HIST3H2A OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss HIST3H2BB LOC101060022 MIR3620 MIR6742 GUK1 ARF1 GJC2 C1orf35 HIST3H3 TRIM17 HIST3H2A OBSCN RNF187 MIR4666A IBA57-AS1 C1orf145 LOC101927401 TRIM11 WNT9A MIR5008 LOC100506571 MRPL55 IBA57 WNT3A LOC107985355

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