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

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