Hs04818649_cn

• Gene Symbol: HELQ
• Assay Reference Genome Location: Chr.4:83422986 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 Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HELQ	NM_001297755.1			NP_001284684.1
	NM_001297756.1			NP_001284685.1
	NM_001297757.1			NP_001284686.1
	NM_133636.3			NP_598375.2
	XM_005262711.1			XP_005262768.1
	XM_005262713.2			XP_005262770.1
	XM_017007679.1			XP_016863168.1
	XM_017007680.1			XP_016863169.1
	XM_017007682.1			XP_016863171.1
	XM_017007683.1			XP_016863172.1
	AF436845.1			AAL85274.1
	AK308395.1
	AK312725.1
	AL512702.1			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	HELQ FAM175A HPSE MRPS18C PLAC8 COQ2
esv3601196	Chr.4:83419958 - 83470239 on Build GRCh38	Loss	HELQ FAM175A MRPS18C
nsv829992	Chr.4:83244588 - 83458578 on Build GRCh38	Loss	HELQ HPSE MRPS18C COQ2

More Information

Additional Information:

For this assay, SNP(s) [rs140759547] 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

Gene Ontology Categories:

Process(es)

double-strand break repair via homologous recombination

Function(s)

nucleic acid binding
helicase activity
ATP binding