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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228223113 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03366508_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 9
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 MRPL55 C1orf35 MIR3620 C1orf145 IBA57 GUK1 OBSCN ARF1 GJC2 IBA57-AS1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain C1orf145 RNF187 SNAP47 PRSS38 GUK1 HIST3H3 LOC101927401 GJC2 LOC105373289 MIR4666A MRPL55 C1orf35 TRIM17 LOC107985355 WNT9A IBA57-AS1 WNT3A MIR3620 IBA57 OBSCN MIR5008 TRIM11 LOC101060022 HIST3H2BB HIST3H2A ARF1 LOC100506571 MIR6742 JMJD4
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNF187 RNA5S16 RNA5S4 HIST3H3 GJC2 LOC105373289 TRIM17 RNA5S11 LOC107985355 RNA5S15 RNA5S13 IBA57-AS1 WNT3A RNA5S14 OBSCN TRIM11 RNA5S5 RNA5S9 RNA5S3 HIST3H2A ARF1 RNA5S6 RHOU LOC105373132 C1orf145 RNA5S17 SNAP47 PRSS38 RNA5S2 GUK1 LOC101927401 MIR4666A RNA5S8 MRPL55 C1orf35 WNT9A MIR3620 IBA57 BTNL10 MIR5008 RNA5S1 RNA5S10 LOC101060022 DUSP5P1 HIST3H2BB RNA5S12 RNA5S7 LOC100506571 MIR6742 JMJD4
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss C1orf145 IBA57 GUK1 OBSCN HIST3H3 TRIM11 LOC101927401 GJC2 MIR4666A TRIM17 HIST3H2BB HIST3H2A MIR6742 IBA57-AS1
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss C1orf145 RNF187 GUK1 HIST3H3 LOC101927401 GJC2 MIR4666A MRPL55 C1orf35 TRIM17 LOC107985355 WNT9A IBA57-AS1 WNT3A MIR3620 IBA57 OBSCN MIR5008 TRIM11 LOC101060022 HIST3H2BB HIST3H2A ARF1 LOC100506571 MIR6742

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