Hs01538157_cn

• Gene Symbol: GART
• Assay Reference Genome Location: Chr.21:33504463 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 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GART	NM_000819.4	21	2925	NP_000810.1
	NM_001136005.1	21	3101	NP_001129477.1
	NM_001136006.1	21	3064	NP_001129478.1
	XM_005260941.1	21	3201	XP_005260998.1
	XM_006723989.1	21	3143	XP_006724052.1
	XM_006723990.1	21	3031	XP_006724053.1
	XM_011529526.1	21	3110	XP_011527828.1
	AB208785.1	21	2991	BAD92022.1
	AK292560.1	21	3040
	AK292897.1	21	2878
	AK295980.1	11	1545
	BC107712.1	21	2879	AAI07713.1
	BQ010035.1	2	451
	BX648124.1	21	3042
	M32082.1	5	666	AAA60077.1
	X54199.1	21	2868	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	TMEM50B DNAJC28 GART

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transferase, metabolite interconversion enzyme

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