Hs02966947_cn

• Gene Symbol: GART
• Assay Reference Genome Location: Chr.21:33511371 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 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GART	NM_000819.4	17	2330	NP_000810.1
	NM_001136005.1	17	2506	NP_001129477.1
	NM_001136006.1	17	2469	NP_001129478.1
	XM_005260941.1	17	2606	XP_005260998.1
	XM_006723989.1	17	2548	XP_006724052.1
	XM_006723990.1	17	2436	XP_006724053.1
	XM_011529526.1	17	2515	XP_011527828.1
	AB208785.1	17	2396	BAD92022.1
	AK292560.1	17	2445
	AK292897.1	17	2283
	AK295980.1	7	950
	BC107712.1	17	2284	AAI07713.1
	BX648124.1	17	2447
	M32082.1	1	71	AAA60077.1
	X54199.1	17	2273	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	GART TMEM50B DNAJC28

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