Hs00524612_cn

• Gene Symbol: HSCB
• Assay Reference Genome Location: Chr.22:28743948 on build GRCh38
• Cytoband: 22q12.1

Target Gene Details

• Entrez Gene ID: 150274
• Gene Name: HscB mitochondrial iron-sulfur cluster cochaperone
• Gene Aliases: DNAJC20, HSC20, JAC1
• Location: Chr.22:28741992-28757518 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSCB	NM_001318314.1			NP_001305243.1
	NM_001318315.1			NP_001305244.1
	NM_001318316.1			NP_001305245.1
	NM_172002.4			NP_741999.3
	NR_134560.1
	XM_005261359.3			XP_005261416.1
	XM_017028619.1			XP_016884108.1
	XM_017028620.1			XP_016884109.1
	AY191719.1			AAN85282.1
	BC065569.1			AAH65569.1
	BG696148.1
	BQ054405.1
	CR456462.1			CAG30348.1
	CR979598.1
	DW414316.1
	HY057929.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv9895	Chr.22:28633973 - 28788289 on Build GRCh38	Gain+Loss	TTC28 HSCB CCDC117 CHEK2
nsv1064079	Chr.22:28669540 - 29060071 on Build GRCh38	Gain	TTC28 ZNRF3 ZNRF3-AS1 C22orf31 HSCB CCDC117 XBP1 CHEK2
nsv834169	Chr.22:28699458 - 28907941 on Build GRCh38	Loss	ZNRF3 HSCB CCDC117 XBP1 CHEK2

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein folding
iron-sulfur cluster assembly
protein oligomerization

Function(s)

molecular_function
protein binding
metal ion binding
chaperone binding