Hs06333738_cn

• Gene Symbol: AASDHPPT
• Assay Reference Genome Location: Chr.11:106081539 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AASDHPPT	NM_015423.2			NP_056238.2
	AF136978.1			AAG49439.1
	AF151057.1			AAF36143.1
	AF151838.1			AAD34075.1
	AF201943.1			AAF86879.1
	AF302110.1			AAG30872.1
	AK293362.1
	AK312529.1
	AL050073.1			CAB43257.1
	BC015470.1			AAH15470.1
	BC016728.1			AAH16728.1

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	CASP1 PDGFD CASP5 LOC643733 GUCY1A2 LOC101928535 KBTBD3 CARD17 MSANTD4 CARD18 GRIA4 CARD16 CASP12 AASDHPPT CASP4 MIR7641-1 LOC102723895 CASP1P2 LOC105369473
esv3627623	Chr.11:106080921 - 106085395 on Build GRCh38	Loss	AASDHPPT

More Information

• Set Membership: Intragenic, Intronic, 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