Hs07542327_cn

• Gene Symbol: KLHL5
• Assay Reference Genome Location: Chr.4:39044854 on build GRCh38
• Cytoband: 4p14

Target Gene Details

• Entrez Gene ID: 51088
• Gene Name: kelch like family member 5
• Gene Aliases: -
• Location: Chr.4:39044796-39143101 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLHL5	NM_001007075.2			NP_001007076.1
	NM_001171654.1			NP_001165125.1
	XM_005262655.4	1	57	XP_005262712.1
	XM_011513699.2	1	59	XP_011512001.1
	XM_011513700.2	1	59	XP_011512002.1
	XM_011513701.2	1	59	XP_011512003.1
	XM_017008273.1	1	59	XP_016863762.1
	XM_017008274.1	1	59	XP_016863763.1
	XM_017008275.1	1	57	XP_016863764.1
	XM_017008276.1	1	59	XP_016863765.1
	DB451501.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1073752	Chr.4:39044379 - 39045980 on Build GRCh38	Deletion	KLHL5
nsv594013	Chr.4:39044710 - 39045265 on Build GRCh38	Gain+Loss	KLHL5
esv28537	Chr.4:39044683 - 39045398 on Build GRCh38	Loss	KLHL5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

biological_process
protein ubiquitination

Function(s)

molecular_function
actin binding
ubiquitin-protein transferase activity