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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
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC101927401 SNAP47 IBA57 LOC101060022 MIR3620 LOC107985355 MIR6742 JMJD4 OBSCN MIR5008 ARF1 WNT3A RNF187 TRIM17 HIST3H3 MIR4666A IBA57-AS1 C1orf35 LOC100506571 GUK1 TRIM11 WNT9A HIST3H2BB C1orf145 PRSS38 HIST3H2A GJC2 MRPL55 LOC105373289
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GUK1 C1orf145 IBA57 GJC2 OBSCN MRPL55 MIR3620 IBA57-AS1 ARF1 C1orf35
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain LOC101927401 RNA5S10 IBA57 RNA5S15 LOC101060022 RNA5S5 RNA5S16 MIR3620 RHOU RNA5S8 RNA5S3 MIR6742 RNA5S12 OBSCN MIR5008 ARF1 WNT3A RNA5S11 RNA5S4 HIST3H3 C1orf35 RNA5S6 HIST3H2BB C1orf145 HIST3H2A GJC2 RNA5S9 SNAP47 RNA5S13 BTNL10 RNA5S7 RNA5S14 LOC107985355 RNA5S2 JMJD4 RNA5S17 RNA5S1 LOC105373132 RNF187 TRIM17 DUSP5P1 MIR4666A IBA57-AS1 LOC100506571 GUK1 TRIM11 WNT9A PRSS38 MRPL55 LOC105373289
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss LOC101927401 TRIM17 IBA57 HIST3H3 MIR4666A IBA57-AS1 GUK1 TRIM11 HIST3H2BB C1orf145 MIR6742 HIST3H2A GJC2 OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC101927401 IBA57 LOC101060022 MIR3620 LOC107985355 MIR6742 OBSCN MIR5008 ARF1 WNT3A RNF187 TRIM17 HIST3H3 MIR4666A IBA57-AS1 C1orf35 LOC100506571 GUK1 TRIM11 WNT9A HIST3H2BB C1orf145 HIST3H2A GJC2 MRPL55
nsv952138 Chr.1:228207400 - 228217099 on Build GRCh38 Deletion C1orf145 OBSCN

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