Hs06415517_cn

• Gene Symbol: RPTOR
• Assay Reference Genome Location: Chr.17:80562237 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 57521
• Gene Name: regulatory associated protein of MTOR complex 1
• Gene Aliases: KOG1, Mip1
• Location: Chr.17:80544825-80966373 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPTOR	NM_001163034.1			NP_001156506.1
	NM_020761.2			NP_065812.1
	AB082951.1			BAC06490.1
	AK055912.1
	AK295964.1
	AK296321.1
	AY090663.1			AAM09075.1
	BC064515.1			AAH64515.1
	BC136652.1
	BC136654.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv24254	Chr.17:80396528 - 80656857 on Build GRCh38	Gain+Loss	RNF213 MIR4730 LOC100294362 ENDOV NPTX1 RPTOR
nsv523005	Chr.17:80552727 - 80584611 on Build GRCh38	Loss	RPTOR

More Information

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

Gene Ontology Categories:

Process(es)

positive regulation of endothelial cell proliferation
cell cycle arrest
regulation of cell size
cell growth
macroautophagy
cellular response to nutrient levels
TOR signaling
positive regulation of TOR signaling
activation of protein kinase activity
positive regulation of transcription from RNA polymerase III promoter
cellular response to amino acid stimulus
positive regulation of protein serine/threonine kinase activity
regulation of cellular response to heat

Function(s)

RNA polymerase III type 1 promoter DNA binding
RNA polymerase III type 2 promoter DNA binding
RNA polymerase III type 3 promoter DNA binding
TFIIIC-class transcription factor binding
protein binding
protein kinase binding
protein kinase activator activity
protein binding, bridging
protein complex binding
14-3-3 protein binding