Hs01568161_cn

• Gene Symbol: AASDHPPT
• Assay Reference Genome Location: Chr.11:106097827 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AASDHPPT	NM_015423.2	6	1996	NP_056238.2
	AB072896.1	1	935
	AF151838.1			AAD34075.1
	AF302110.1	6	2016	AAG30872.1
	AL050073.1	5	1557	CAB43257.1
	BX537665.1	2	4274

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

pantothenate metabolic process
lysine biosynthetic process via aminoadipic acid

Function(s)

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