Hs00494397_cn

• Gene Symbol: KBTBD3
• Assay Reference Genome Location: Chr.11:106052998 on build GRCh38
• Cytoband: 11q22.3

Target Gene Details

• Entrez Gene ID: 143879
• Gene Name: kelch repeat and BTB domain containing 3
• Gene Aliases: BKLHD3
• Location: Chr.11:106046801-106077765 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KBTBD3	NM_152433.3	3	2130	NP_689646.2
	NM_198439.2	4	2331	NP_940841.1
	XM_006718767.3	4	2361	XP_006718830.1
	XM_011542618.2	3	1975	XP_011540920.1
	XM_011542619.2	3	2113	XP_011540921.1
	AK055247.1	1	747
	AK092993.1	3	1733	BAC04012.1
	AK289915.1	4	1941
	BC117466.1	3	1829
	BX640672.1	3	1851	CAE45804.1
	BX647830.1	3	1278

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1052674	Chr.11:104111970 - 107043401 on Build GRCh38	Loss	CARD18 CARD17 CASP5 LOC105369473 LOC102723895 KBTBD3 CASP1 CASP12 GRIA4 LOC101928535 CARD16 MSANTD4 LOC643733 CASP4 AASDHPPT GUCY1A2 CASP1P2 PDGFD MIR7641-1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein ubiquitination

Function(s)

ubiquitin-protein transferase activity