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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
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion C1orf35 IBA57 GJC2 MRPL55 OBSCN GUK1 C1orf145 IBA57-AS1 ARF1 MIR3620
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC101060022 TRIM11 C1orf35 LOC107985355 OBSCN TRIM17 HIST3H3 MIR4666A WNT3A PRSS38 IBA57-AS1 HIST3H2A GUK1 MIR5008 WNT9A MIR3620 HIST3H2BB IBA57 SNAP47 GJC2 RNF187 MRPL55 LOC101927401 C1orf145 LOC100506571 ARF1 LOC105373289 MIR6742 JMJD4
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain TRIM11 DUSP5P1 MIR4666A WNT3A PRSS38 IBA57-AS1 RNA5S16 RNA5S6 HIST3H2A RNA5S4 RNA5S17 LOC105373132 MIR5008 RNA5S14 RNA5S7 SNAP47 RNA5S13 RNA5S5 RNF187 MRPL55 RHOU LOC101927401 C1orf145 RNA5S8 RNA5S10 RNA5S15 MIR6742 RNA5S9 LOC101060022 C1orf35 LOC107985355 OBSCN TRIM17 HIST3H3 RNA5S1 RNA5S3 RNA5S11 RNA5S12 GUK1 BTNL10 WNT9A MIR3620 HIST3H2BB IBA57 GJC2 LOC100506571 ARF1 LOC105373289 RNA5S2 JMJD4
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss TRIM11 IBA57 GJC2 OBSCN TRIM17 HIST3H3 MIR4666A LOC101927401 C1orf145 IBA57-AS1 HIST3H2A GUK1 MIR6742 HIST3H2BB
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC101060022 TRIM11 C1orf35 LOC107985355 OBSCN TRIM17 HIST3H3 MIR4666A WNT3A IBA57-AS1 HIST3H2A GUK1 MIR5008 WNT9A MIR3620 HIST3H2BB IBA57 GJC2 RNF187 MRPL55 LOC101927401 C1orf145 LOC100506571 ARF1 MIR6742

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