Hs05510065_cn

• Gene Symbol: TSR1
• Assay Reference Genome Location: Chr.17:2326419 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 55720
• Gene Name: TSR1, ribosome maturation factor
• Gene Aliases: -
• Location: Chr.17:2322678-2337384 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSR1	NM_018128.4			NP_060598.3
	AB037822.1
	AK001396.1			BAA91667.1
	AK026565.1
	BC019090.2			AAH19090.2
	BC110851.1			AAI10852.1
	BC126110.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574224	Chr.17:2269769 - 2423186 on Build GRCh38	Gain	TSR1 SMG6 SNORD91A SNORD91B LOC284009 SRR SGSM2 LOC101927864 METTL16 MNT
nsv1067416	Chr.17:2319186 - 2343258 on Build GRCh38	Loss	TSR1 SNORD91A SNORD91B SRR SGSM2
nsv469765	Chr.17:2213155 - 2400446 on Build GRCh38	Loss	TSR1 SMG6 SNORD91A SNORD91B SRR LOC101927839 SGSM2 LOC101927864 MNT
nsv833336	Chr.17:2176922 - 2400456 on Build GRCh38	Loss	TSR1 SMG6 SNORD91A SNORD91B SRR LOC101927839 SGSM2 LOC101927864 MNT

More Information

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

Gene Ontology Categories:

Process(es)

maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
rRNA processing
ribosome assembly

Function(s)

GTPase activity
GTP binding
U3 snoRNA binding
poly(A) RNA binding