Hs01324463_cn

• Gene Symbol: PUS1
• Assay Reference Genome Location: Chr.12:131932262 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 80324
• Gene Name: pseudouridylate synthase 1
• Gene Aliases: MLASA1
• Location: Chr.12:131929200-131944040 on Build GRCh38
• Assay Gene Location: Overlaps Exon 4 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PUS1	NM_001002019.2			NP_001002019.1
	NM_001002020.2			NP_001002020.1
	NM_025215.5			NP_079491.2
	XM_011538768.2			XP_011537070.1
	XM_011538769.2			XP_011537071.1
	AF116238.1			AAD21042.1
	AF318369.1			AAL55876.1
	AK074659.1
	AK292242.1
	BC002901.2			AAH02901.1
	BC009505.2
	BC019320.1
	BG336824.1
	BM923133.1
	BX340929.2
	CB118952.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv826562	Chr.12:131932210 - 131933610 on Build GRCh38	Loss	PUS1
nsv560930	Chr.12:131819514 - 131990296 on Build GRCh38	Loss	PUS1 EP400 ULK1 MMP17
nsv455803	Chr.12:131748598 - 131937699 on Build GRCh38	Gain	PUS1 ULK1 SFSWAP MMP17
nsv942	Chr.12:131906169 - 131935050 on Build GRCh38	Insertion	PUS1 ULK1
esv3631282	Chr.12:131915190 - 132065739 on Build GRCh38	Gain	SNORA49 PUS1 EP400 ULK1
esv2751042	Chr.12:131776139 - 132005401 on Build GRCh38	Gain	PUS1 EP400 ULK1 SFSWAP MMP17
nsv560928	Chr.12:131793985 - 132060098 on Build GRCh38	Gain	SNORA49 PUS1 EP400 ULK1 SFSWAP MMP17
esv3631281	Chr.12:131909102 - 131947534 on Build GRCh38	Gain	PUS1 ULK1
nsv455804	Chr.12:131842314 - 131934988 on Build GRCh38	Loss	PUS1 ULK1 MMP17

More Information

Additional Information:

For this assay, SNP(s) [rs142954643,rs76655496] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

mitochondrial tRNA pseudouridine synthesis

Function(s)

pseudouridylate synthase activity
pseudouridine synthase activity
poly(A) RNA binding