Hs06055639_cn

• Gene Symbol: TERT
• Assay Reference Genome Location: Chr.5:1257620 on build GRCh38
• Cytoband: 5p15.33

Target Gene Details

• Entrez Gene ID: 7015
• Gene Name: telomerase reverse transcriptase
• Gene Aliases: CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT
• Location: Chr.5:1253167-1295626 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TERT	NM_001193376.1			NP_001180305.1
	NM_198253.2			NP_937983.2
	XM_017009796.1			XP_016865285.1
	AB085628.1			BAC11010.1
	AB086379.1			BAC11014.1
	AB086950.1			BAC11015.1
	AF015950.1			AAC51672.1
	AF018167.1			AAC51724.1
	AX810036.1			CAE75638.1
	AX810378.1			CAE75644.1
	JF896281.1
	JF896283.1
	JF896284.1
	JF896285.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1024507	Chr.5:1232783 - 1269250 on Build GRCh38	Gain	SLC6A18 TERT
esv3575810	Chr.5:1055511 - 1282578 on Build GRCh38	Gain	MIR4635 SLC6A18 SLC12A7 TERT SLC6A19 CTD-3080P12.3
nsv509044	Chr.5:1147636 - 1265572 on Build GRCh38	Insertion	SLC6A18 SLC12A7 TERT SLC6A19 CTD-3080P12.3
nsv596629	Chr.5:457146 - 1468172 on Build GRCh38	Gain	MIR4635 SLC6A3 TRIP13 CLPTM1L LPCAT1 LOC100506688 TERT CTD-3080P12.3 LOC100288152 SLC6A18 MIR4456 PP7080 EXOC3 BRD9 CEP72 LOC100996325 SLC9A3 SLC12A7 ZDHHC11 MIR4457 NKD2 TPPP LINC01511 SLC6A19 ZDHHC11B LOC101929895
nsv950627	Chr.5:1008886 - 1300685 on Build GRCh38	Deletion	MIR4635 SLC6A18 SLC12A7 NKD2 TERT SLC6A19 CTD-3080P12.3
esv3603797	Chr.5:1086744 - 1259707 on Build GRCh38	Gain	SLC6A18 SLC12A7 TERT SLC6A19 CTD-3080P12.3

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

telomere maintenance
transcription, RNA-templated
RNA-dependent DNA biosynthetic process
telomere maintenance via telomerase
mitochondrion organization
negative regulation of gene expression
DNA strand elongation
positive regulation of Wnt signaling pathway
production of siRNA involved in RNA interference
regulation of protein stability
positive regulation of protein binding
RNA biosynthetic process
positive regulation of hair cycle
positive regulation of nitric-oxide synthase activity
establishment of protein localization to telomere
cellular response to hypoxia
DNA biosynthetic process
replicative senescence
positive regulation of pri-miRNA transcription from RNA polymerase II promoter
negative regulation of production of siRNA involved in RNA interference
positive regulation of protein localization to nucleolus
beta-catenin-TCF complex assembly
positive regulation of stem cell proliferation
negative regulation of cellular senescence
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Function(s)

tRNA binding
transcription coactivator binding
DNA binding
telomerase activity
telomerase RNA reverse transcriptase activity
RNA binding
RNA-directed DNA polymerase activity
RNA-directed RNA polymerase activity
protein binding
nucleotidyltransferase activity
telomeric DNA binding
protein homodimerization activity
metal ion binding
telomerase RNA binding