Hs00589667_cn

• Gene Symbol: IBA57
• Assay Reference Genome Location: Chr.1:228175465 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	1032	NP_001010867.1
	NM_001310327.1	3	743	NP_001297256.1
	AK022796.1	4	3059
	AK303837.1	3	743
	BI820993.1

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

More Information

• 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