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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228214399 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01928051_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 4 - Intron 4
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 HIST3H2BB IBA57 HIST3H3 MIR3620 RNF187 C1orf35 C1orf145 LOC100506571 MIR5008 TRIM17 JMJD4 TRIM11 GJC2 HIST3H2A SNAP47 LOC105373289 PRSS38 LOC107985355 WNT3A WNT9A LOC101927401 MIR4666A GUK1 OBSCN IBA57-AS1 LOC101060022 ARF1 MRPL55 MIR6742
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion IBA57 GJC2 GUK1 OBSCN IBA57-AS1 MIR3620 C1orf35 C1orf145 ARF1 MRPL55
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain HIST3H2BB RNA5S8 RNF187 MIR5008 TRIM17 HIST3H2A LOC105373289 PRSS38 RHOU WNT9A RNA5S4 LOC101927401 RNA5S7 GUK1 BTNL10 LOC101060022 ARF1 RNA5S14 RNA5S9 RNA5S16 MIR6742 RNA5S10 IBA57 HIST3H3 MIR3620 C1orf35 C1orf145 RNA5S1 RNA5S15 DUSP5P1 LOC100506571 RNA5S2 JMJD4 TRIM11 GJC2 SNAP47 RNA5S13 RNA5S17 LOC105373132 RNA5S12 LOC107985355 WNT3A RNA5S11 RNA5S3 MIR4666A OBSCN IBA57-AS1 MRPL55 RNA5S6 RNA5S5
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2BB IBA57 HIST3H3 C1orf145 TRIM17 TRIM11 LOC101927401 MIR4666A GJC2 HIST3H2A GUK1 OBSCN IBA57-AS1 MIR6742
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss HIST3H2BB IBA57 HIST3H3 MIR3620 RNF187 C1orf35 C1orf145 LOC100506571 MIR5008 TRIM17 TRIM11 GJC2 HIST3H2A LOC107985355 WNT3A WNT9A LOC101927401 MIR4666A GUK1 OBSCN IBA57-AS1 LOC101060022 ARF1 MRPL55 MIR6742
nsv952138 Chr.1:228207400 - 228217099 on Build GRCh38 Deletion OBSCN C1orf145

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