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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228226289 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03350871_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
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion MIR3620 GJC2 OBSCN IBA57-AS1 MRPL55 ARF1 IBA57 GUK1 C1orf35 C1orf145
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain IBA57-AS1 MRPL55 JMJD4 PRSS38 LOC100506571 HIST3H2A MIR3620 OBSCN ARF1 MIR4666A IBA57 HIST3H2BB HIST3H3 WNT3A RNF187 GUK1 SNAP47 C1orf35 LOC105373289 MIR5008 TRIM11 GJC2 WNT9A LOC101060022 LOC107985355 LOC101927401 C1orf145 TRIM17 MIR6742
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S1 MRPL55 RNA5S16 RNA5S14 JMJD4 PRSS38 LOC100506571 HIST3H2A RNA5S3 RNA5S12 HIST3H3 RNA5S10 WNT3A RNA5S4 RNA5S7 SNAP47 BTNL10 RNA5S5 LOC105373289 MIR5008 TRIM11 RNA5S2 RHOU LOC107985355 LOC101927401 C1orf145 MIR6742 IBA57-AS1 RNA5S15 RNA5S8 MIR3620 OBSCN ARF1 MIR4666A DUSP5P1 IBA57 HIST3H2BB RNA5S13 LOC105373132 RNA5S9 RNF187 RNA5S17 RNA5S11 GUK1 C1orf35 GJC2 WNT9A LOC101060022 RNA5S6 TRIM17
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss IBA57-AS1 GUK1 HIST3H2A TRIM11 GJC2 OBSCN MIR4666A IBA57 HIST3H2BB HIST3H3 LOC101927401 C1orf145 TRIM17 MIR6742
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss IBA57-AS1 MRPL55 LOC100506571 HIST3H2A MIR3620 OBSCN ARF1 MIR4666A IBA57 HIST3H2BB HIST3H3 WNT3A RNF187 GUK1 C1orf35 MIR5008 TRIM11 GJC2 WNT9A LOC101060022 LOC107985355 LOC101927401 C1orf145 TRIM17 MIR6742

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