Hs02663398_cn

• Gene Symbol: HYLS1
• Assay Reference Genome Location: Chr.11:125895321 on build GRCh38
• Cytoband: 11q24.2

Target Gene Details

• Entrez Gene ID: 219844
• Gene Name: HYLS1, centriolar and ciliogenesis associated
• Gene Aliases: HLS
• Location: Chr.11:125883614-125900646 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HYLS1	NM_001134793.1			NP_001128265.1
	NM_145014.2			NP_659451.1
	XM_005271430.2			XP_005271487.1
	XM_006718777.3			XP_006718840.1
	XM_011542659.2			XP_011540961.1
	XM_017017320.1			XP_016872809.1
	XM_017017321.1			XP_016872810.1
	AK057477.1			BAB71503.1
	AK127394.1
	BC015047.1			AAH15047.1

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: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PUS3	NM_001271985.1	2	521	NP_001258914.1
	NM_031307.3	3	945	NP_112597.3
	XM_005271687.3	2	1074	XP_005271744.1
	XM_005271688.3			XP_005271745.1
	AF325689.1	2	877	AAG50280.1
	AK055702.1	3	922	BAB70990.1
	AK074218.1	1	121
	AK314251.1	3	943
	BC004822.1	3	934	AAH04822.1
	BC013427.2	1	165	AAH13427.2
	CR982568.1	2	497

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	PUS3 DDX25 LOC105369553 HYLS1
nsv556526	Chr.11:125778321 - 125896149 on Build GRCh38	Loss	PUS3 PATE2 LOC105369553 PATE4 HYLS1 PATE3
nsv556525	Chr.11:125690285 - 125971104 on Build GRCh38	Gain	PUS3 PATE2 DDX25 LOC105369553 PATE4 LOC338667 HYLS1 PATE1 CDON PATE3
esv32964	Chr.11:125495069 - 126046387 on Build GRCh38	Gain+Loss	PUS3 FEZ1 DDX25 LOC105369553 PATE4 LOC338667 LOC403312 STT3A STT3A-AS1 PATE3 PATE2 EI24 HYLS1 CHEK1 PATE1 CDON ACRV1

More Information

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

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

tRNA pseudouridine synthesis

Function(s)

protein binding
RNA binding
pseudouridine synthase activity