Hs04859482_cn

• Gene Symbol: PAICS
• Assay Reference Genome Location: Chr.4:56449141 on build GRCh38
• Cytoband: 4q12

Target Gene Details

• Entrez Gene ID: 10606
• Gene Name: phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase
• Gene Aliases: ADE2, ADE2H1, AIRC, PAIS
• Location: Chr.4:56435749-56461368 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAICS	NM_001079524.1			NP_001072992.1
	NM_001079525.1			NP_001072993.1
	NM_006452.3			NP_006443.1
	XM_011534366.1			XP_011532668.1
	AK294821.1
	AK308527.1
	BC010273.1			AAH10273.1
	BC019255.1			AAH19255.1
	BM807012.1
	BT006988.1			AAP35634.1
	CR749824.1			CAH18683.1
	X53793.1			CAA37801.1

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	SRP72 LOC100506514 ARL9 PAICS AASDH KIAA1211 PPAT
dgv5213n100	Chr.4:56076751 - 56538345 on Build GRCh38	Gain	THEGL SRP72 LOC100506514 LOC101928760 ARL9 PAICS AASDH KIAA1211 PPAT

More Information

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

Gene Ontology Categories:

Process(es)

'de novo' IMP biosynthetic process
purine nucleobase biosynthetic process
purine ribonucleoside monophosphate biosynthetic process
adenine biosynthetic process
cell-cell adhesion

Function(s)

phosphoribosylaminoimidazole carboxylase activity
phosphoribosylaminoimidazolesuccinocarboxamide synthase activity
protein binding
ATP binding
identical protein binding
cadherin binding involved in cell-cell adhesion