Hs01652426_cn

• Gene Symbol: GART
• Assay Reference Genome Location: Chr.21:33520410 on build GRCh38
• Cytoband: 21q22.11

Target Gene Details

• Entrez Gene ID: 2618
• Gene Name: phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
• Gene Aliases: AIRS, GARS, GARTF, PAIS, PGFT, PRGS
• Location: Chr.21:33503931-33542917 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GART	NM_000819.4	14	1791	NP_000810.1
	NM_001136005.1	14	1967	NP_001129477.1
	NM_001136006.1	14	1930	NP_001129478.1
	XM_005260941.1	14	2067	XP_005260998.1
	XM_006723989.1	14	2009	XP_006724052.1
	XM_006723990.1	14	1897	XP_006724053.1
	XM_011529526.1	14	1976	XP_011527828.1
	AB208785.1	14	1857	BAD92022.1
	AK292560.1	14	1906
	AK292897.1	14	1744
	AK295980.1	4	411
	BC107712.1	14	1745	AAI07713.1
	BX648124.1	14	1908
	X54199.1	14	1734	CAA38119.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509795	Chr.21:33457276 - 33521074 on Build GRCh38	Insertion	DNAJC28 GART TMEM50B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

brainstem development
'de novo' IMP biosynthetic process
glycine metabolic process
purine nucleobase biosynthetic process
purine ribonucleoside monophosphate biosynthetic process
response to organic substance
response to inorganic substance
cerebellum development
cerebral cortex development
tetrahydrofolate biosynthetic process

Function(s)

phosphoribosylamine-glycine ligase activity
phosphoribosylformylglycinamidine cyclo-ligase activity
phosphoribosylglycinamide formyltransferase activity
ATP binding
metal ion binding