Hs00230870_cn

• Gene Symbol: HELQ
• Assay Reference Genome Location: Chr.4:83426044 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 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HELQ	NM_001297755.1	13	2714	NP_001284684.1
	NM_001297756.1	14	2928	NP_001284685.1
	NM_001297757.1	13	2817	NP_001284686.1
	NM_133636.3	14	2915	NP_598375.2
	XM_005262711.1	14	2776	XP_005262768.1
	XM_005262713.2	14	3005	XP_005262770.1
	XM_006714076.2	14	2877	XP_006714139.1
	XM_017007679.1	13	2575	XP_016863168.1
	XM_017007680.1	13	2804	XP_016863169.1
	XM_017007682.1	14	2996	XP_016863171.1
	XM_017007683.1	12	2115	XP_016863172.1
	AF436845.1	14	2876	AAL85274.1
	AK308395.1	13	2655
	AK312725.1	14	2892
	AL512702.1	12	1579	CAH56359.1

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	PLAC8 FAM175A MRPS18C HPSE COQ2 HELQ
esv3601196	Chr.4:83419958 - 83470239 on Build GRCh38	Loss	FAM175A MRPS18C HELQ
nsv829992	Chr.4:83244588 - 83458578 on Build GRCh38	Loss	MRPS18C HPSE COQ2 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