Hs02156287_cn

• Gene Symbol: PUS3
• Assay Reference Genome Location: Chr.11:125903208 on build GRCh38
• Cytoband: 11q24.2

Target Gene Details

• Entrez Gene ID: 83480
• Gene Name: pseudouridylate synthase 3
• Gene Aliases: 2610020J05Rik, FKSG32
• Location: Chr.11:125893485-125903774 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PUS3	NM_001271985.1			NP_001258914.1
	NM_031307.3			NP_112597.3
	XM_005271687.3			XP_005271744.1
	XM_005271688.3			XP_005271745.1
	AK055702.1			BAB70990.1
	AK314251.1
	BC004822.1			AAH04822.1
	BM786445.1
	CR982568.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv248n67	Chr.11:125843561 - 125919531 on Build GRCh38	Gain	LOC105369553 PUS3 HYLS1 DDX25
nsv556525	Chr.11:125690285 - 125971104 on Build GRCh38	Gain	CDON PATE1 LOC338667 LOC105369553 PUS3 HYLS1 PATE2 PATE4 DDX25 PATE3
esv32964	Chr.11:125495069 - 126046387 on Build GRCh38	Gain+Loss	CDON LOC338667 STT3A-AS1 FEZ1 CHEK1 PATE4 EI24 DDX25 STT3A PATE3 PATE1 LOC403312 LOC105369553 PUS3 ACRV1 HYLS1 PATE2

More Information

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

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

tRNA pseudouridine synthesis

Function(s)

RNA binding
pseudouridine synthase activity