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

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