Hs01265768_cn

• Gene Symbol: PTRF
• Assay Reference Genome Location: Chr.17:42404876 on build GRCh38
• Cytoband: 17q21.2

Target Gene Details

• Entrez Gene ID: 284119
• Gene Name: polymerase I and transcript release factor
• Gene Aliases: CAVIN, CAVIN1, CGL4, FKSG13, cavin-1
• Location: Chr.17:42402449-42423320 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTRF	NM_012232.5	2	1207	NP_036364.2
	AF000421.1	1	426	AAC63404.1
	AF312393.1	2	1404	AAG27093.1
	AK000715.1	2	693
	AK092406.1	3	1008
	AK298072.1	3	1088
	AK298563.1	3	1062
	AK314389.1	2	1143
	BC004295.1	1	417	AAH04295.1
	BC008849.1	2	490	AAH08849.1
	BC066123.1	2	1143	AAH66123.1
	BC073759.1	2	1029	AAH73759.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470586	Chr.17:42362183 - 42459270 on Build GRCh38	Gain	STAT3 PTRF ATP6V0A1
nsv833449	Chr.17:42274854 - 42421081 on Build GRCh38	Loss	STAT3 STAT5A PTRF STAT5B
nsv575051	Chr.17:42317580 - 42498404 on Build GRCh38	Gain	STAT3 PTRF ATP6V0A1 MIR548AT

More Information

Additional Information:

For this assay, SNP(s) [rs112332573] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
transcription initiation from RNA polymerase I promoter
termination of RNA polymerase I transcription

Function(s)

protein binding
rRNA primary transcript binding
poly(A) RNA binding