Hs00752791_cn

• Gene Symbol: KBTBD4
• Assay Reference Genome Location: Chr.11:47575653 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 55709
• Gene Name: kelch repeat and BTB domain containing 4
• Gene Aliases: BKLHD4, HSPC252
• Location: Chr.11:47572197-47579015 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KBTBD4	NM_001318716.1			NP_001305645.1
	NM_001318717.1			NP_001305646.1
	NM_001318718.1			NP_001305647.1
	NM_001318719.1			NP_001305648.1
	NM_001318720.1			NP_001305649.1
	NM_001318721.1			NP_001305650.1
	NM_001318722.1			NP_001305651.1
	NM_001318723.1			NP_001305652.1
	NM_001318724.1			NP_001305653.1
	NM_001318725.1			NP_001305654.1
	NM_016506.6			NP_057590.3
	NM_018095.5			NP_060565.4
	XM_017018009.1			XP_016873498.1
	AF151086.1			AAF36172.1
	AK001312.1			BAA91616.1
	AK001749.1			BAA91880.1
	AK091607.1
	AK222550.1			BAD96270.1
	AK222985.1
	AK225062.1
	AL713735.1			CAD28521.1
	BC002736.2			AAH02736.1
	BI601113.1
	BI908078.1
	CR457270.1			CAG33551.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832142	Chr.11:47496403 - 47659758 on Build GRCh38	Loss	PTPMT1 NDUFS3 C1QTNF4 FAM180B MTCH2 KBTBD4 AGBL2 CELF1
nsv509405	Chr.11:47571038 - 47663104 on Build GRCh38	Insertion	PTPMT1 NDUFS3 C1QTNF4 FAM180B MTCH2 KBTBD4 AGBL2
nsv825872	Chr.11:47543873 - 47638778 on Build GRCh38	Gain	PTPMT1 NDUFS3 C1QTNF4 FAM180B MTCH2 KBTBD4 CELF1
nsv314	Chr.11:47540012 - 47584704 on Build GRCh38	Deletion	PTPMT1 NDUFS3 KBTBD4 CELF1

More Information

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