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

Chr.1:228175315 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02826936_cn
Size
Availability Made To Order
Catalog # 4400291
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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 3 882 NP_001010867.1
NM_001310327.1 3 593 NP_001297256.1
AK022796.1 4 2909
AK303837.1 3 593
BI820993.1 3 622

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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