Hs04037478_cn

• Gene Symbol: RTEL1
• Assay Reference Genome Location: Chr.20:63676462 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: Within Intron 10

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: Within Intron 10

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	ARFRP1 LIME1 TNFRSF6B ZBTB46-AS1 ZBTB46 STMN3 ZGPAT RTEL1-TNFRSF6B RTEL1 SLC2A4RG
nsv189	Chr.20:63675224 - 63696350 on Build GRCh38	Insertion	RTEL1-TNFRSF6B RTEL1
nsv1160690	Chr.20:63639552 - 63744287 on Build GRCh38	Deletion	ARFRP1 LIME1 TNFRSF6B ZBTB46 STMN3 ZGPAT RTEL1-TNFRSF6B RTEL1 SLC2A4RG
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	UCKL1-AS1 MIR941-4 LIME1 LKAAEAR1 SAMD10 MIR647 ZNF512B RTEL1 TNFRSF6B MIR1914 MIR941-1 DNAJC5 STMN3 TCEA2 MIR6813 ZGPAT LOC100505771 MYT1 MIR941-5 PRPF6 RGS19 UCKL1 SLC2A4RG OPRL1 NPBWR2 LINC00266-1 ZBTB46-AS1 C20orf181 LINC00176 SOX18 GMEB2 MIR941-2 ARFRP1 MIR941-3 ZBTB46 PCMTD2 RTEL1-TNFRSF6B ABHD16B TPD52L2
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	LIME1 RTEL1 GMEB2 ARFRP1 TNFRSF6B SRMS ZBTB46 HELZ2 PTK6 STMN3 ZGPAT PPDPF LOC100505771 FNDC11 RTEL1-TNFRSF6B EEF1A2 SLC2A4RG
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	LIME1 RTEL1 KCNQ2 GMEB2 ARFRP1 TNFRSF6B SRMS ZBTB46 HELZ2 PTK6 STMN3 ZGPAT PPDPF LOC100505771 FNDC11 RTEL1-TNFRSF6B EEF1A2 SLC2A4RG

More Information

Additional Information:

For this assay, SNP(s) [rs76832249] 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, Intronic, 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