Hs00974161_cn

• Gene Symbol: ATIC
• Assay Reference Genome Location: Chr.2:215325250 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 471
• Gene Name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
• Gene Aliases: AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH
• Location: Chr.2:215311956-215359745 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATIC	NM_004044.6			NP_004035.2
	XM_017004187.1			XP_016859676.1
	AB062403.1			BAB93490.1
	AK290067.1
	AK298142.1
	AK313066.1
	BC008879.2			AAH08879.1
	D82348.1			BAA11559.1
	D89976.1			BAA21762.1
	DA043224.1
	DA074758.1
	EU794654.1
	U37436.1			AAA97405.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834536	Chr.2:215176624 - 215350466 on Build GRCh38	Loss	ATIC

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

brainstem development
nucleobase-containing compound metabolic process
'de novo' IMP biosynthetic process
nucleoside metabolic process
purine ribonucleoside monophosphate biosynthetic process
response to inorganic substance
cerebellum development
cerebral cortex development
organ regeneration
dihydrofolate metabolic process
tetrahydrofolate biosynthetic process
cell-cell adhesion

Function(s)

IMP cyclohydrolase activity
phosphoribosylaminoimidazolecarboxamide formyltransferase activity
protein homodimerization activity
cadherin binding involved in cell-cell adhesion