Hs05506690_cn

• Gene Symbol: LOC105371921
• Assay Reference Genome Location: Chr.17:80889640 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 105371921
• Gene Name: uncharacterized LOC105371921
• Gene Aliases: -
• Location: Chr.17:80885776-80891713 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC105371921	XM_017025502.1			XP_016880991.1
	XM_017025503.1			XP_016880992.1

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 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPTOR	NM_001163034.1			NP_001156506.1
	NM_020761.2			NP_065812.1
	AB037724.1			BAA92541.1
	AB082951.1			BAC06490.1
	AK055912.1
	AK296321.1
	AY090663.1			AAM09075.1
	BC136652.1
	BC136654.1
	GQ183898.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952386	Chr.17:80872501 - 81005700 on Build GRCh38	Deletion	CHMP6 LOC107985022 LOC400627 LOC100129503 LOC105371921 RPTOR
esv2716411	Chr.17:80888954 - 80890614 on Build GRCh38	Deletion	LOC105371921 RPTOR
esv26223	Chr.17:80659041 - 81736487 on Build GRCh38	Gain+Loss	MIR6786 MIR4740 MIR657 LOC400627 PDE6G LOC107985021 LOC105371925 LOC101928855 RPTOR CHMP6 CEP131 LINC00482 MIR1250 FSCN2 MIR3065 MRPL12 TEPSIN MIR3186 CCDC137 ARL16 AATK-AS1 LOC100129503 HGS LOC105371921 LOC100130370 TMEM105 NPLOC4 BAHCC1 ACTG1 AATK BAIAP2-AS1 SLC25A10 MIR338 C17orf89 LOC107985022 OXLD1 FAAP100 SLC38A10 TSPAN10 BAIAP2
esv2716412	Chr.17:80889643 - 80890148 on Build GRCh38	Deletion	LOC105371921 RPTOR
nsv509676	Chr.17:80864760 - 80936519 on Build GRCh38	Insertion	LOC105371921 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