Hs02677147_cn

• Gene Symbol: IBA57
• Assay Reference Genome Location: Chr.1:228174735 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: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IBA57	NM_001010867.3			NP_001010867.1
	NM_001310327.1			NP_001297256.1
	AK022796.1
	AK303837.1
	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	IBA57 GJC2 GUK1 IBA57-AS1
nsv1160102	Chr.1:228081212 - 228239280 on Build GRCh38	Deletion	C1orf145 IBA57 OBSCN ARF1 C1orf35 MRPL55 MIR3620 GJC2 GUK1 IBA57-AS1
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	MIR4666A IBA57 LOC107985355 ARF1 HIST3H3 WNT3A MIR3620 OBSCN LOC105373289 RNF187 JMJD4 TRIM17 HIST3H2BB MIR5008 PRSS38 LOC101927401 C1orf145 HIST3H2A GJC2 GUK1 MIR6742 IBA57-AS1 LOC100506571 WNT9A LOC101060022 TRIM11 C1orf35 MRPL55 SNAP47
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	IBA57 LOC107985355 HIST3H3 RNA5S4 RNA5S17 HIST3H2BB MIR5008 RNA5S11 RNA5S9 LOC101927401 LOC105373132 GJC2 IBA57-AS1 RNA5S15 LOC100506571 WNT9A LOC101060022 TRIM11 C1orf35 RNA5S14 DUSP5P1 MIR4666A RNA5S13 ARF1 WNT3A RNA5S10 MIR3620 RNA5S8 OBSCN LOC105373289 RNF187 RNA5S12 BTNL10 JMJD4 TRIM17 RHOU PRSS38 C1orf145 HIST3H2A RNA5S1 RNA5S3 RNA5S2 RNA5S5 RNA5S7 RNA5S6 RNA5S16 GUK1 MIR6742 MRPL55 SNAP47
nsv827019	Chr.1:228126466 - 228463319 on Build GRCh38	Loss	LOC101927401 MIR4666A C1orf145 IBA57 HIST3H2A HIST3H3 GJC2 GUK1 MIR6742 IBA57-AS1 OBSCN TRIM11 TRIM17 HIST3H2BB
nsv523935	Chr.1:227850423 - 228494048 on Build GRCh38	Loss	MIR4666A IBA57 LOC107985355 ARF1 HIST3H3 WNT3A MIR3620 OBSCN RNF187 TRIM17 HIST3H2BB MIR5008 LOC101927401 C1orf145 HIST3H2A GJC2 GUK1 MIR6742 IBA57-AS1 LOC100506571 WNT9A LOC101060022 TRIM11 C1orf35 MRPL55
dgv839n54	Chr.1:228139958 - 228183397 on Build GRCh38	Loss	IBA57 GJC2 GUK1 IBA57-AS1
esv2724262	Chr.1:228173571 - 228174784 on Build GRCh38	Deletion	IBA57

More Information

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

Gene Ontology Categories:

Process(es)

heme biosynthetic process
iron-sulfur cluster assembly

Function(s)

transferase activity
poly(A) RNA binding