Hs01285158_cn

• Gene Symbol: AASDHPPT
• Assay Reference Genome Location: Chr.11:106077726 on build GRCh38
• Cytoband: 11q22.3

Target Gene Details

• Entrez Gene ID: 60496
• Gene Name: aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
• Gene Aliases: AASD-PPT, ACPS, CGI-80, LYS2, LYS5
• Location: Chr.11:106077565-106098692 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AASDHPPT	NM_015423.2	1	162	NP_056238.2
	AF136978.1	1	182	AAG49439.1
	AF151057.1	1	183	AAF36143.1
	AF151838.1	1	183	AAD34075.1
	AF201943.1	1	131	AAF86879.1
	AF302110.1	1	183	AAG30872.1
	AK293362.1	1	45
	AK312529.1	1	65
	BC015470.1	1	53	AAH15470.1
	BC016728.1	1	82	AAH16728.1

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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KBTBD3	NM_152433.3			NP_689646.2
	NM_198439.2			NP_940841.1
	XM_006718767.3			XP_006718830.1
	XM_011542619.2			XP_011540921.1

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	CASP5 GUCY1A2 LOC105369473 CASP12 LOC102723895 LOC101928535 CARD16 CARD17 CASP1P2 CASP1 KBTBD3 MIR7641-1 LOC643733 AASDHPPT PDGFD CARD18 GRIA4 MSANTD4 CASP4

More Information

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

Panther Classification:

Molecular Function -

transferase, scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

pantothenate metabolic process
lysine biosynthetic process via aminoadipic acid
protein ubiquitination

Function(s)

magnesium ion binding
protein binding
holo-[acyl-carrier-protein] synthase activity
ubiquitin-protein transferase activity