Hs03335513_cn

• Gene Symbol: IBA57
• Assay Reference Genome Location: Chr.1:228171407 on build GRCh38
• Cytoband: 1q42.13

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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IBA57	NM_001010867.3			NP_001010867.1
	AK022796.1	2	268
	BI820993.1
	DN831582.1
	HY081013.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs184217966] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

heme biosynthetic process
iron-sulfur cluster assembly

Function(s)

transferase activity
poly(A) RNA binding