Hs01377050_cn

• Gene Symbol: HELQ
• Assay Reference Genome Location: Chr.4:83436913 on build GRCh38
• Cytoband: 4q21.23

Target Gene Details

• Entrez Gene ID: 113510
• Gene Name: helicase, POLQ-like
• Gene Aliases: HEL308
• Location: Chr.4:83407343-83455883 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HELQ	NM_001297755.1	8	1982	NP_001284684.1
	NM_001297756.1	9	2196	NP_001284685.1
	NM_001297757.1	8	2085	NP_001284686.1
	NM_133636.3	9	2183	NP_598375.2
	XM_005262711.1	9	2044	XP_005262768.1
	XM_005262713.2	9	2273	XP_005262770.1
	XM_006714076.2	9	2145	XP_006714139.1
	XM_017007679.1	8	1843	XP_016863168.1
	XM_017007680.1	8	2072	XP_016863169.1
	XM_017007681.1	9	2145	XP_016863170.1
	XM_017007682.1	9	2264	XP_016863171.1
	XM_017007683.1	7	1383	XP_016863172.1
	AF436845.1	9	2144	AAL85274.1
	AK308395.1	8	1923
	AK312725.1	9	2160
	AL512702.1	7	847	CAH56359.1
	CK000270.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893971	Chr.4:83096792 - 83493129 on Build GRCh38	Gain	COQ2 FAM175A PLAC8 HPSE MRPS18C HELQ
esv3601196	Chr.4:83419958 - 83470239 on Build GRCh38	Loss	FAM175A MRPS18C HELQ
nsv829992	Chr.4:83244588 - 83458578 on Build GRCh38	Loss	COQ2 HPSE MRPS18C HELQ

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

double-strand break repair via homologous recombination

Function(s)

nucleic acid binding
helicase activity
ATP binding