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See other IBA57 CNV Assays ›
Gene Symbol
IBA57
Assay Reference Genome
Location

Chr.1:228177236 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01108322_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 200205

Gene Name:

 IBA57 homolog, iron-sulfur cluster assembly

Gene Aliases:

 C1orf69, MMDS3, SPG74

Location:

 Chr.1:228165808-228182257 on Build GRCh38

Assay Gene Location:

 Within Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
IBA57 NM_001010867.3 3 2803 NP_001010867.1
NM_001310327.1 3 2514 NP_001297256.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv952137 Chr.1:228140600 - 228182899 on Build GRCh38 Deletion GUK1 IBA57 IBA57-AS1 GJC2
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion OBSCN GUK1 MIR3620 ARF1 IBA57 C1orf35 IBA57-AS1 GJC2 C1orf145 MRPL55
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain HIST3H2A TRIM17 MIR3620 IBA57 LOC100506571 IBA57-AS1 C1orf145 LOC101927401 MRPL55 GUK1 LOC107985355 RNF187 TRIM11 C1orf35 SNAP47 WNT9A MIR5008 ARF1 HIST3H2BB GJC2 OBSCN PRSS38 HIST3H3 MIR4666A WNT3A LOC101060022 JMJD4 LOC105373289 MIR6742
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S3 IBA57-AS1 RHOU C1orf145 RNA5S16 MRPL55 GUK1 LOC107985355 TRIM11 RNA5S1 WNT9A RNA5S11 RNA5S12 RNA5S15 RNA5S9 HIST3H2BB RNA5S8 OBSCN HIST3H3 WNT3A RNA5S7 RNA5S2 HIST3H2A DUSP5P1 TRIM17 MIR3620 RNA5S13 RNA5S6 RNA5S5 IBA57 RNA5S17 LOC100506571 LOC101927401 RNA5S14 RNF187 RNA5S4 C1orf35 SNAP47 MIR5008 ARF1 BTNL10 LOC105373132 GJC2 PRSS38 MIR4666A LOC101060022 JMJD4 LOC105373289 RNA5S10 MIR6742
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2A TRIM17 IBA57 HIST3H2BB IBA57-AS1 GJC2 C1orf145 LOC101927401 OBSCN HIST3H3 MIR4666A GUK1 TRIM11 MIR6742
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss HIST3H2A TRIM17 MIR3620 IBA57 LOC100506571 IBA57-AS1 C1orf145 LOC101927401 MRPL55 GUK1 LOC107985355 RNF187 TRIM11 C1orf35 WNT9A MIR5008 ARF1 HIST3H2BB GJC2 OBSCN HIST3H3 MIR4666A WNT3A LOC101060022 MIR6742
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GUK1 IBA57 IBA57-AS1 GJC2

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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