Hs02497347_cn

• Gene Symbol: KBTBD4
• Assay Reference Genome Location: Chr.11:47577724 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KBTBD4	NM_001318716.1	2	536	NP_001305645.1
	NM_001318717.1	2	457	NP_001305646.1
	NM_001318718.1	2	437	NP_001305647.1
	NM_001318719.1	2	415	NP_001305648.1
	NM_001318720.1	2	409	NP_001305649.1
	NM_001318721.1	2	384	NP_001305650.1
	NM_001318722.1	2	405	NP_001305651.1
	NM_001318723.1	2	489	NP_001305652.1
	NM_001318724.1	2	489	NP_001305653.1
	NM_001318725.1	2	392	NP_001305654.1
	NM_016506.6	2	493	NP_057590.3
	NM_018095.5	2	388	NP_060565.4
	XM_017018009.1	2	372	XP_016873498.1
	AF151086.1	2	350	AAF36172.1
	AK001312.1	2	342	BAA91616.1
	AK001749.1	2	429	BAA91880.1
	AK091607.1	1	1066
	AK222550.1	2	339	BAD96270.1
	AK222985.1	2	349
	AK225062.1	2	339
	AL713735.1	1	318	CAD28521.1
	BC002736.2	2	430	AAH02736.1
	BI601113.1	2	396
	BI908078.1	2	395
	CR457270.1	1	276	CAG33551.1
	DA016320.1	2	388
	DA170281.1	2	444
	DA559313.1	2	447
	DA883418.1	2	426
	DB457928.1	2	360
	HY062454.1	2	371
	HY120885.1	2	370
	HY176105.1	2	412

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	CELF1 MTCH2 NDUFS3 PTPMT1 FAM180B AGBL2 KBTBD4 C1QTNF4
nsv509405	Chr.11:47571038 - 47663104 on Build GRCh38	Insertion	MTCH2 NDUFS3 PTPMT1 FAM180B AGBL2 KBTBD4 C1QTNF4
nsv825872	Chr.11:47543873 - 47638778 on Build GRCh38	Gain	CELF1 MTCH2 NDUFS3 PTPMT1 FAM180B KBTBD4 C1QTNF4
nsv314	Chr.11:47540012 - 47584704 on Build GRCh38	Deletion	CELF1 NDUFS3 PTPMT1 KBTBD4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation