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See other OBSCN CNV Assays ›
Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228214836 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01385831_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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
OBSCN NM_001098623.2 5 1640 NP_001092093.2
NM_001271223.2 5 1640 NP_001258152.2
NM_052843.3 5 1640 NP_443075.3
XM_005273287.4 5 1720 XP_005273344.1
XM_005273291.4 5 1720 XP_005273348.1
XM_005273298.4 5 1720 XP_005273355.1
XM_005273307.4 5 1720 XP_005273364.1
XM_006711822.3 5 1720 XP_006711885.1
XM_006711823.3 5 1720 XP_006711886.1
XM_006711827.3 5 1719 XP_006711890.1
XM_006711829.3 5 1719 XP_006711892.1
XM_011544297.2 5 1720 XP_011542599.1
XM_011544299.2 5 1720 XP_011542601.1
XM_017002443.1 5 1720 XP_016857932.1
XM_017002444.1 5 1683 XP_016857933.1
XM_017002445.1 5 1720 XP_016857934.1
XM_017002446.1 5 1720 XP_016857935.1
XM_017002447.1 5 1720 XP_016857936.1
XM_017002448.1 5 1720 XP_016857937.1
XM_017002449.1 5 1721 XP_016857938.1
XM_017002450.1 5 1721 XP_016857939.1
XM_017002451.1 5 1721 XP_016857940.1
XM_017002452.1 5 1721 XP_016857941.1
XM_017002453.1 5 1720 XP_016857942.1
XM_017002454.1 5 1720 XP_016857943.1
XM_017002455.1 5 1720 XP_016857944.1
XM_017002456.1 5 1720 XP_016857945.1
XM_017002457.1 5 1720 XP_016857946.1
XM_017002458.1 5 1721 XP_016857947.1
XM_017002459.1 5 1721 XP_016857948.1
XM_017002460.1 5 1721 XP_016857949.1
XM_017002461.1 5 1720 XP_016857950.1
XM_017002462.1 5 1720 XP_016857951.1
XM_017002463.1 5 1720 XP_016857952.1
XM_017002464.1 5 1720 XP_016857953.1
XM_017002465.1 5 1721 XP_016857954.1
XM_017002466.1 5 1721 XP_016857955.1
XM_017002467.1 5 1721 XP_016857956.1
XM_017002468.1 5 1721 XP_016857957.1
XM_017002469.1 5 1721 XP_016857958.1
XM_017002470.1 5 1722 XP_016857959.1
XM_017002471.1 5 1719 XP_016857960.1
XM_017002472.1 5 1719 XP_016857961.1
XM_017002473.1 5 1719 XP_016857962.1
AJ002535.1 5 1637 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 GUK1 ARF1 MIR3620 IBA57 MRPL55 GJC2 C1orf145 IBA57-AS1 C1orf35 OBSCN
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain GUK1 WNT3A C1orf145 IBA57-AS1 TRIM17 LOC101927401 MIR4666A RNF187 JMJD4 LOC105373289 LOC100506571 IBA57 HIST3H3 C1orf35 OBSCN LOC107985355 LOC101060022 MIR3620 SNAP47 HIST3H2A MRPL55 HIST3H2BB ARF1 WNT9A MIR6742 MIR5008 GJC2 TRIM11 PRSS38
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain GUK1 RNA5S15 RNA5S16 C1orf145 TRIM17 RNA5S11 LOC101927401 MIR4666A LOC105373289 RNA5S13 DUSP5P1 OBSCN RNA5S4 LOC101060022 MIR3620 HIST3H2A MRPL55 RNA5S9 HIST3H2BB LOC105373132 RNA5S12 RNA5S5 WNT9A MIR6742 RNA5S10 RNA5S7 WNT3A IBA57-AS1 RNA5S6 RNF187 JMJD4 LOC100506571 IBA57 RNA5S8 RNA5S1 HIST3H3 C1orf35 RNA5S3 RNA5S14 LOC107985355 SNAP47 BTNL10 RHOU ARF1 RNA5S17 MIR5008 RNA5S2 GJC2 TRIM11 PRSS38
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss GUK1 HIST3H2A HIST3H2BB C1orf145 IBA57-AS1 TRIM17 LOC101927401 MIR4666A MIR6742 IBA57 GJC2 HIST3H3 OBSCN TRIM11
nsv952138 Chr.1:228207400 - 228217099 on Build GRCh38 Deletion C1orf145 OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss GUK1 WNT3A C1orf145 IBA57-AS1 TRIM17 LOC101927401 MIR4666A RNF187 LOC100506571 IBA57 HIST3H3 C1orf35 OBSCN LOC107985355 LOC101060022 MIR3620 HIST3H2A MRPL55 HIST3H2BB ARF1 WNT9A MIR6742 MIR5008 GJC2 TRIM11

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