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

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