Hs02514802_cn

• Gene Symbol: AASDHPPT
• Assay Reference Genome Location: Chr.11:106091370 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 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AASDHPPT	NM_015423.2	4	732	NP_056238.2
	AF136978.1	4	754	AAG49439.1
	AF151057.1	4	752	AAF36143.1
	AF151838.1	4	752	AAD34075.1
	AF201943.1	4	701	AAF86879.1
	AF302110.1	4	752	AAG30872.1
	AK293362.1	3	493
	AK312529.1	4	636
	AL050073.1	3	293	CAB43257.1
	BC015470.1	4	623	AAH15470.1
	BC016728.1	4	652	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	GRIA4 CASP12 LOC102723895 CARD17 LOC105369473 MIR7641-1 GUCY1A2 CASP5 LOC101928535 CARD16 MSANTD4 KBTBD3 LOC643733 CASP1P2 CARD18 AASDHPPT CASP4 PDGFD CASP1

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