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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228224770 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00722234_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:

 Overlaps Exon 10 - 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
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain GUK1 LOC101927401 SNAP47 HIST3H3 MIR6742 IBA57-AS1 MIR5008 MIR3620 OBSCN JMJD4 TRIM11 HIST3H2BB LOC100506571 LOC105373289 WNT9A C1orf35 PRSS38 MIR4666A TRIM17 LOC107985355 WNT3A RNF187 HIST3H2A MRPL55 LOC101060022 GJC2 C1orf145 IBA57 ARF1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GUK1 MIR3620 OBSCN MRPL55 GJC2 C1orf145 C1orf35 IBA57-AS1 IBA57 ARF1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain GUK1 RNA5S3 SNAP47 RNA5S13 HIST3H3 RHOU RNA5S9 RNA5S10 MIR3620 DUSP5P1 OBSCN JMJD4 RNA5S16 LOC100506571 LOC105373289 RNA5S7 RNA5S5 LOC105373132 WNT9A RNA5S1 BTNL10 MIR4666A RNA5S17 MRPL55 GJC2 IBA57 ARF1 LOC101927401 RNA5S4 MIR6742 IBA57-AS1 MIR5008 RNA5S2 TRIM11 HIST3H2BB RNA5S6 RNA5S15 C1orf35 PRSS38 RNA5S11 RNA5S8 RNA5S14 RNA5S12 TRIM17 LOC107985355 WNT3A RNF187 HIST3H2A LOC101060022 C1orf145
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss GUK1 LOC101927401 HIST3H3 MIR6742 IBA57-AS1 MIR4666A TRIM17 OBSCN HIST3H2A TRIM11 HIST3H2BB GJC2 C1orf145 IBA57
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss GUK1 LOC101927401 HIST3H3 MIR6742 IBA57-AS1 MIR5008 MIR3620 OBSCN TRIM11 HIST3H2BB LOC100506571 WNT9A C1orf35 MIR4666A TRIM17 LOC107985355 WNT3A RNF187 HIST3H2A MRPL55 LOC101060022 GJC2 C1orf145 IBA57 ARF1

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