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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228224180 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03359861_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
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC101060022 GJC2 HIST3H2A C1orf145 ARF1 C1orf35 HIST3H3 LOC105373289 IBA57 WNT9A LOC100506571 LOC101927401 OBSCN HIST3H2BB WNT3A TRIM17 TRIM11 SNAP47 MIR4666A PRSS38 IBA57-AS1 MRPL55 LOC107985355 MIR3620 GUK1 JMJD4 RNF187 MIR5008 MIR6742
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GJC2 GUK1 C1orf145 ARF1 C1orf35 OBSCN IBA57-AS1 IBA57 MRPL55 MIR3620
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain HIST3H2A ARF1 LOC105373289 RNA5S16 WNT9A LOC100506571 OBSCN RNA5S5 RHOU TRIM17 TRIM11 SNAP47 RNA5S17 MIR4666A PRSS38 LOC105373132 IBA57-AS1 RNA5S6 RNA5S9 MIR3620 RNA5S11 RNF187 RNA5S14 MIR5008 RNA5S1 MIR6742 RNA5S2 LOC101060022 GJC2 DUSP5P1 C1orf145 RNA5S15 C1orf35 HIST3H3 IBA57 RNA5S7 RNA5S12 LOC101927401 HIST3H2BB WNT3A BTNL10 RNA5S4 RNA5S8 MRPL55 LOC107985355 RNA5S10 RNA5S3 GUK1 RNA5S13 JMJD4
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss TRIM17 GJC2 TRIM11 HIST3H2A C1orf145 MIR4666A HIST3H3 IBA57-AS1 IBA57 LOC101927401 GUK1 OBSCN HIST3H2BB MIR6742
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC101060022 GJC2 HIST3H2A C1orf145 ARF1 C1orf35 HIST3H3 IBA57 WNT9A LOC100506571 LOC101927401 OBSCN HIST3H2BB WNT3A TRIM17 TRIM11 MIR4666A IBA57-AS1 MRPL55 LOC107985355 MIR3620 GUK1 RNF187 MIR5008 MIR6742

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