Hs00402441_cn

• Gene Symbol: IBA57
• Assay Reference Genome Location: Chr.1:228178782 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	4349	NP_001010867.1
	NM_001310327.1	3	4060	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	IBA57-AS1 GJC2 GUK1 IBA57
nsv1160102	Chr.1:228081212 - 228239280 on Build GRCh38	Deletion	MRPL55 OBSCN C1orf145 MIR3620 ARF1 IBA57-AS1 GJC2 C1orf35 GUK1 IBA57
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	OBSCN PRSS38 MIR4666A C1orf145 IBA57-AS1 MIR6742 TRIM11 MRPL55 LOC101060022 WNT3A ARF1 JMJD4 LOC107985355 GUK1 IBA57 MIR5008 HIST3H2A SNAP47 LOC100506571 HIST3H2BB WNT9A HIST3H3 LOC105373289 MIR3620 GJC2 TRIM17 C1orf35 RNF187 LOC101927401
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	RNA5S12 MIR4666A C1orf145 RNA5S5 IBA57-AS1 TRIM11 RNA5S9 MRPL55 LOC101060022 RNA5S4 LOC107985355 RNA5S13 RNA5S17 HIST3H2A RNA5S1 RNA5S16 LOC100506571 HIST3H2BB WNT9A RNA5S8 RNA5S7 LOC105373289 MIR3620 C1orf35 BTNL10 LOC101927401 OBSCN PRSS38 RNA5S11 MIR6742 RNA5S15 WNT3A ARF1 JMJD4 RNA5S2 GUK1 IBA57 MIR5008 LOC105373132 RNA5S3 SNAP47 HIST3H3 RNA5S6 DUSP5P1 GJC2 TRIM17 RNA5S14 RNA5S10 RNF187 RHOU
nsv827019	Chr.1:228126466 - 228463319 on Build GRCh38	Loss	OBSCN MIR4666A C1orf145 HIST3H2BB IBA57-AS1 HIST3H3 MIR6742 TRIM11 GJC2 TRIM17 GUK1 IBA57 LOC101927401 HIST3H2A
nsv523935	Chr.1:227850423 - 228494048 on Build GRCh38	Loss	OBSCN MIR4666A C1orf145 IBA57-AS1 MIR6742 TRIM11 MRPL55 LOC101060022 WNT3A ARF1 LOC107985355 GUK1 IBA57 MIR5008 HIST3H2A LOC100506571 HIST3H2BB WNT9A HIST3H3 MIR3620 GJC2 TRIM17 C1orf35 RNF187 LOC101927401
dgv839n54	Chr.1:228139958 - 228183397 on Build GRCh38	Loss	IBA57-AS1 GJC2 GUK1 IBA57

More Information

Additional Information:

For this assay, SNP(s) [rs111325737] 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