Hs00823684_cn

• Gene Symbol: KBTBD4
• Assay Reference Genome Location: Chr.11:47573652 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: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KBTBD4	NM_001318716.1	4	1095	NP_001305645.1
	NM_001318717.1	4	1016	NP_001305646.1
	NM_001318718.1	4	996	NP_001305647.1
	NM_001318719.1	4	974	NP_001305648.1
	NM_001318720.1	4	968	NP_001305649.1
	NM_001318721.1	4	943	NP_001305650.1
	NM_001318722.1	4	964	NP_001305651.1
	NM_001318723.1	4	1048	NP_001305652.1
	NM_001318724.1	4	1048	NP_001305653.1
	NM_001318725.1	4	951	NP_001305654.1
	NM_016506.6	4	1052	NP_057590.3
	NM_018095.5	4	947	NP_060565.4
	XM_017018009.1	4	931	XP_016873498.1
	AF151086.1	4	903	AAF36172.1
	AK001312.1	4	901	BAA91616.1
	AK001749.1	4	988	BAA91880.1
	AK091607.1	3	1625
	AK222550.1	4	898	BAD96270.1
	AK222985.1	4	908
	AK225062.1	4	898
	AL713735.1	3	877	CAD28521.1
	BC002736.2	4	989	AAH02736.1
	CR457270.1	3	835	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	C1QTNF4 PTPMT1 MTCH2 AGBL2 KBTBD4 NDUFS3 FAM180B CELF1
nsv509405	Chr.11:47571038 - 47663104 on Build GRCh38	Insertion	C1QTNF4 PTPMT1 MTCH2 AGBL2 KBTBD4 NDUFS3 FAM180B
nsv825872	Chr.11:47543873 - 47638778 on Build GRCh38	Gain	C1QTNF4 PTPMT1 MTCH2 KBTBD4 NDUFS3 FAM180B CELF1
nsv314	Chr.11:47540012 - 47584704 on Build GRCh38	Deletion	PTPMT1 KBTBD4 NDUFS3 CELF1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation