Hs00559174_cn

• Gene Symbol: RTEL1
• Assay Reference Genome Location: Chr.20:63666070 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 51750
• Gene Name: regulator of telomere elongation helicase 1
• Gene Aliases: C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
• Location: Chr.20:63657810-63696253 on Build GRCh38
• Assay Gene Location: Overlaps Exon 7 - Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RTEL1	NM_001283009.1			NP_001269938.1
	NM_001283010.1			NP_001269939.1
	NM_016434.3			NP_057518.1
	NM_032957.4			NP_116575.3
	AF217795.1			AAF33687.1
	AK299332.1
	AK302508.1
	AK304798.1
	JX119186.1

Target Gene Details

• Entrez Gene ID: 100533107
• Gene Name: RTEL1-TNFRSF6B readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.20:63657810-63698698 on Build GRCh38
• Assay Gene Location: Overlaps Exon 7 - Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RTEL1-TNFRSF6B	NR_037882.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953308	Chr.20:63650148 - 63831847 on Build GRCh38	Deletion	RTEL1 RTEL1-TNFRSF6B ZBTB46-AS1 LIME1 STMN3 ZBTB46 TNFRSF6B ARFRP1 SLC2A4RG ZGPAT
nsv1160690	Chr.20:63639552 - 63744287 on Build GRCh38	Deletion	RTEL1 RTEL1-TNFRSF6B LIME1 STMN3 ZBTB46 TNFRSF6B ARFRP1 SLC2A4RG ZGPAT
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	MIR941-1 LINC00176 NPBWR2 GMEB2 RTEL1 RTEL1-TNFRSF6B PRPF6 STMN3 OPRL1 MIR941-4 SAMD10 MYT1 SLC2A4RG TCEA2 C20orf181 MIR647 LKAAEAR1 ZNF512B PCMTD2 ZBTB46-AS1 LOC100505771 TPD52L2 DNAJC5 ARFRP1 ABHD16B MIR941-3 MIR941-5 ZGPAT SOX18 MIR1914 UCKL1 LIME1 MIR6813 ZBTB46 UCKL1-AS1 TNFRSF6B MIR941-2 RGS19 LINC00266-1
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	SRMS LOC100505771 ARFRP1 EEF1A2 GMEB2 ZGPAT RTEL1 RTEL1-TNFRSF6B HELZ2 PPDPF LIME1 STMN3 ZBTB46 FNDC11 TNFRSF6B SLC2A4RG PTK6
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	SRMS LOC100505771 ARFRP1 EEF1A2 GMEB2 KCNQ2 ZGPAT RTEL1 RTEL1-TNFRSF6B HELZ2 PPDPF LIME1 STMN3 ZBTB46 FNDC11 TNFRSF6B SLC2A4RG PTK6

More Information

Additional Information:

For this assay, SNP(s) [rs73920935] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

telomere maintenance
strand displacement
DNA repair
regulation of double-strand break repair via homologous recombination
replication fork processing
positive regulation of telomere maintenance
DNA duplex unwinding
telomere maintenance in response to DNA damage
telomeric loop disassembly
mitotic telomere maintenance via semi-conservative replication
positive regulation of telomere capping
positive regulation of telomere maintenance via telomere lengthening
negative regulation of t-circle formation
negative regulation of telomere maintenance in response to DNA damage
positive regulation of telomeric loop disassembly

Function(s)

DNA binding
ATP-dependent DNA helicase activity
protein binding
ATP binding
metal ion binding
4 iron, 4 sulfur cluster binding