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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228223113 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03366508_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 LOC105373289 LOC107985355 PRSS38 MIR5008 ARF1 WNT9A WNT3A C1orf35 LOC101060022 GUK1 MIR4666A LOC101927401 HIST3H2BB IBA57-AS1 MIR6742 TRIM11 TRIM17 LOC100506571 SNAP47 HIST3H3 OBSCN RNF187 IBA57 HIST3H2A GJC2 MIR3620 JMJD4 MRPL55 C1orf145
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GUK1 OBSCN IBA57 GJC2 ARF1 IBA57-AS1 MIR3620 C1orf35 MRPL55 C1orf145
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S6 LOC107985355 PRSS38 RNA5S14 ARF1 WNT9A WNT3A LOC101060022 GUK1 RNA5S17 RNA5S9 BTNL10 MIR4666A LOC105373132 RHOU RNA5S15 RNA5S1 TRIM17 RNA5S5 RNA5S13 RNA5S12 SNAP47 RNA5S10 HIST3H3 OBSCN RNF187 RNA5S3 RNA5S16 MIR3620 JMJD4 MRPL55 C1orf145 LOC105373289 MIR5008 C1orf35 RNA5S11 RNA5S4 LOC101927401 HIST3H2BB IBA57-AS1 MIR6742 TRIM11 LOC100506571 DUSP5P1 RNA5S8 IBA57 HIST3H2A RNA5S2 GJC2 RNA5S7
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss TRIM11 TRIM17 HIST3H3 GUK1 OBSCN IBA57 MIR4666A HIST3H2A LOC101927401 GJC2 HIST3H2BB IBA57-AS1 MIR6742 C1orf145
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC107985355 MIR5008 ARF1 WNT9A WNT3A C1orf35 LOC101060022 GUK1 MIR4666A LOC101927401 HIST3H2BB IBA57-AS1 MIR6742 TRIM11 TRIM17 LOC100506571 HIST3H3 OBSCN RNF187 IBA57 HIST3H2A GJC2 MIR3620 MRPL55 C1orf145

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