Hs04491669_cn

• Gene Symbol: RTEL1
• Assay Reference Genome Location: Chr.20:63682838 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 14

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 14

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 STMN3 TNFRSF6B ZGPAT ZBTB46-AS1 SLC2A4RG RTEL1-TNFRSF6B ZBTB46 RTEL1 ARFRP1
nsv189	Chr.20:63675224 - 63696350 on Build GRCh38	Insertion	RTEL1-TNFRSF6B RTEL1
nsv1160690	Chr.20:63639552 - 63744287 on Build GRCh38	Deletion	LIME1 STMN3 TNFRSF6B ZGPAT SLC2A4RG RTEL1-TNFRSF6B ZBTB46 RTEL1 ARFRP1
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	STMN3 LKAAEAR1 LINC00266-1 UCKL1-AS1 MIR6813 ABHD16B MIR941-3 GMEB2 LOC100505771 SAMD10 ZBTB46 ARFRP1 NPBWR2 C20orf181 MIR941-5 MYT1 TPD52L2 PCMTD2 SLC2A4RG RTEL1 TCEA2 MIR941-4 MIR647 DNAJC5 UCKL1 LIME1 TNFRSF6B SOX18 ZGPAT OPRL1 RGS19 PRPF6 ZBTB46-AS1 MIR941-1 RTEL1-TNFRSF6B MIR1914 MIR941-2 ZNF512B LINC00176
nsv586611	Chr.20:63680946 - 63709340 on Build GRCh38	Loss	TNFRSF6B ZGPAT RTEL1-TNFRSF6B RTEL1 ARFRP1
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	STMN3 EEF1A2 SRMS PTK6 SLC2A4RG FNDC11 RTEL1 HELZ2 LIME1 TNFRSF6B ZGPAT PPDPF GMEB2 LOC100505771 RTEL1-TNFRSF6B ZBTB46 ARFRP1
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	STMN3 EEF1A2 SRMS PTK6 SLC2A4RG KCNQ2 FNDC11 RTEL1 HELZ2 LIME1 TNFRSF6B ZGPAT PPDPF GMEB2 LOC100505771 RTEL1-TNFRSF6B ZBTB46 ARFRP1
nsv179257	Chr.20:63676608 - 63684977 on Build GRCh38	Deletion	RTEL1-TNFRSF6B RTEL1

More Information

• 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