Hs02384884_cn

• Gene Symbol: AASDH
• Assay Reference Genome Location: Chr.4:56349731 on build GRCh38
• Cytoband: 4q12

Target Gene Details

• Entrez Gene ID: 132949
• Gene Name: aminoadipate-semialdehyde dehydrogenase
• Gene Aliases: ACSF4, LYS2, NRPS1098, NRPS998
• Location: Chr.4:56337687-56387677 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AASDH	NM_001286668.1	10	1937	NP_001273597.1
	NM_001286669.1	10	2088	NP_001273598.1
	NM_001286670.1	8	1612	NP_001273599.1
	NM_001286671.1	11	2209	NP_001273600.1
	NM_001286672.1	11	2209	NP_001273601.1
	NM_001323890.1	11	2209	NP_001310819.1
	NM_001323892.1	11	2209	NP_001310821.1
	NM_001323893.1	10	2088	NP_001310822.1
	NM_001323899.1	10	2102	NP_001310828.1
	NM_181806.3	11	2209	NP_861522.2
	XM_017007740.1	11	2170	XP_016863229.1
	XM_017007741.1	12	2285	XP_016863230.1
	XM_017007742.1	9	1985	XP_016863231.1
	XM_017007743.1	11	2170	XP_016863232.1
	XM_017007744.1	8	1792	XP_016863233.1
	AF516672.1	10	1852	AAP76519.1
	AK294332.1	8	1574
	AK303733.1	10	2041
	AK304309.1	11	2200
	AK316296.1	11	2190
	AY314787.1	11	2172	AAQ83120.1
	AY422212.1	11	2124	AAR31184.1
	BC141824.1	11	2167
	BC142709.1	11	2145
	BX640635.1	6	3040	CAH56482.1
	BX648853.1	11	2201	CAH56130.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1161086	Chr.4:56310907 - 56510457 on Build GRCh38	Duplication	LOC100506514 ARL9 SRP72 PAICS KIAA1211 AASDH PPAT
nsv829940	Chr.4:56206175 - 56396564 on Build GRCh38	Gain	LOC101928760 KIAA1211 AASDH PPAT
dgv5213n100	Chr.4:56076751 - 56538345 on Build GRCh38	Gain	LOC100506514 ARL9 LOC101928760 SRP72 PAICS KIAA1211 AASDH THEGL PPAT

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

fatty acid metabolic process

Function(s)

ATP binding
acid-thiol ligase activity