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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228218846 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03375708_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 8
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 IBA57-AS1 OBSCN IBA57 MIR3620 MRPL55 C1orf145 GUK1 C1orf35 GJC2 ARF1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC101927401 SNAP47 MIR3620 HIST3H2BB C1orf145 WNT3A HIST3H3 ARF1 LOC107985355 LOC101060022 IBA57 HIST3H2A MIR6742 GJC2 WNT9A IBA57-AS1 OBSCN TRIM17 LOC100506571 JMJD4 PRSS38 MIR4666A MRPL55 GUK1 RNF187 C1orf35 MIR5008 LOC105373289 TRIM11
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S17 LOC101927401 SNAP47 MIR3620 HIST3H2BB C1orf145 WNT3A ARF1 LOC107985355 RNA5S3 IBA57 MIR6742 BTNL10 LOC105373132 IBA57-AS1 OBSCN RNA5S16 RHOU LOC100506571 RNA5S6 MIR4666A MRPL55 RNA5S12 GUK1 RNF187 MIR5008 RNA5S5 RNA5S10 RNA5S9 TRIM11 RNA5S11 HIST3H3 RNA5S8 RNA5S14 LOC101060022 DUSP5P1 RNA5S2 HIST3H2A GJC2 WNT9A TRIM17 RNA5S13 JMJD4 PRSS38 RNA5S1 RNA5S15 C1orf35 RNA5S4 RNA5S7 LOC105373289
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss IBA57-AS1 OBSCN TRIM17 LOC101927401 HIST3H2BB C1orf145 HIST3H3 MIR4666A IBA57 HIST3H2A GUK1 MIR6742 GJC2 TRIM11
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC101927401 MIR3620 HIST3H2BB C1orf145 WNT3A HIST3H3 ARF1 LOC107985355 LOC101060022 IBA57 HIST3H2A MIR6742 GJC2 WNT9A IBA57-AS1 OBSCN TRIM17 LOC100506571 MIR4666A MRPL55 GUK1 RNF187 C1orf35 MIR5008 TRIM11

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