Hs01683921_cn

• Gene Symbol: IBA57
• Assay Reference Genome Location: Chr.1:228176369 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IBA57	NM_001010867.3	3	1936	NP_001010867.1
	NM_001310327.1	3	1647	NP_001297256.1
	AK022796.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs141543997] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

heme biosynthetic process
iron-sulfur cluster assembly

Function(s)

transferase activity
poly(A) RNA binding