Hs03014777_cn

• Gene Symbol: AASDHPPT
• Assay Reference Genome Location: Chr.11:106098653 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: Overlaps - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AASDHPPT	NM_015423.2			NP_056238.2
	AB072896.1
	AF302110.1			AAG30872.1
	AL050073.1			CAB43257.1
	BX537665.1

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

More Information

• Set Membership: Intragenic, Non-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