Hs01096924_cn

• Gene Symbol: HSPE1
• Assay Reference Genome Location: Chr.2:197503122 on build GRCh38
• Cytoband: 2q33.1

Target Gene Details

• Entrez Gene ID: 3336
• Gene Name: heat shock protein family E (Hsp10) member 1
• Gene Aliases: CPN10, EPF, GROES, HSP10
• Location: Chr.2:197499997-197503463 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSPE1	NM_002157.2			NP_002148.1
	AK312104.1
	BC023518.2			AAH23518.1
	BG188453.1
	CN264788.1
	CR407688.1			CAG28616.1
	U07550.1			AAA50953.1
	X75821.1			CAA53455.1

Target Gene Details

• Entrez Gene ID: 100529241
• Gene Name: HSPE1-MOB4 readthrough
• Gene Aliases: HSPE1-PHOCN
• Location: Chr.2:197499997-197553699 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSPE1-MOB4	NM_001202485.1			NP_001189414.1
	BJ992310.1
	CR990871.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv961921	Chr.2:197502695 - 197504594 on Build GRCh38	Duplication	HSPE1-MOB4 HSPE1
nsv1014881	Chr.2:197432432 - 197668882 on Build GRCh38	Gain	HSPE1-MOB4 MOB4 RFTN2 HSPD1 COQ10B SF3B1 SNORA105B HSPE1

More Information

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

Panther Classification:

Molecular Function -

chaperonin, kinase activator

Gene Ontology Categories:

Process(es)

osteoblast differentiation
protein folding
activation of cysteine-type endopeptidase activity involved in apoptotic process
response to unfolded protein
chaperone mediated protein folding requiring cofactor

Function(s)

protein binding
ATP binding
poly(A) RNA binding
metal ion binding
unfolded protein binding
chaperone binding