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	LIME1 RTEL1-TNFRSF6B ZBTB46-AS1 STMN3 RTEL1 TNFRSF6B ARFRP1 ZBTB46 ZGPAT SLC2A4RG
nsv1160690	Chr.20:63639552 - 63744287 on Build GRCh38	Deletion	LIME1 RTEL1-TNFRSF6B STMN3 RTEL1 TNFRSF6B ARFRP1 ZBTB46 ZGPAT SLC2A4RG
nsv3449	Chr.20:63675224 - 63696622 on Build GRCh38	Insertion	RTEL1-TNFRSF6B RTEL1
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	PCMTD2 MIR941-3 UCKL1 SAMD10 LINC00176 LKAAEAR1 RGS19 MIR941-5 LOC100505771 ZNF512B RTEL1 GMEB2 UCKL1-AS1 ZBTB46 NPBWR2 TPD52L2 PRPF6 MIR941-1 MIR941-4 TNFRSF6B ZGPAT MIR941-2 LINC00266-1 SLC2A4RG MIR6813 TCEA2 LIME1 MIR1914 RTEL1-TNFRSF6B ZBTB46-AS1 STMN3 SOX18 MYT1 OPRL1 ABHD16B ARFRP1 DNAJC5 MIR647 C20orf181
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	HELZ2 SRMS TNFRSF6B ZGPAT PPDPF SLC2A4RG LIME1 LOC100505771 RTEL1-TNFRSF6B STMN3 RTEL1 PTK6 GMEB2 ARFRP1 ZBTB46 EEF1A2 FNDC11
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	HELZ2 KCNQ2 SRMS TNFRSF6B ZGPAT PPDPF SLC2A4RG LIME1 LOC100505771 RTEL1-TNFRSF6B STMN3 RTEL1 PTK6 GMEB2 ARFRP1 ZBTB46 EEF1A2 FNDC11

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