Hs00451254_cn

• Gene Symbol: DHX8
• Assay Reference Genome Location: Chr.17:43484013 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 1659
• Gene Name: DEAH-box helicase 8
• Gene Aliases: DDX8, HRH1, PRP22, PRPF22
• Location: Chr.17:43483865-43544787 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DHX8	NM_001302623.1	1	97	NP_001289552.1
	NM_001322216.1	1	149	NP_001309145.1
	NM_001322217.1	1	149	NP_001309146.1
	NM_001322218.1	1	149	NP_001309147.1
	NM_001322219.1	1	149	NP_001309148.1
	NM_001322220.1	1	149	NP_001309149.1
	NM_001322221.1	1	149	NP_001309150.1
	NM_004941.2	1	97	NP_004932.1
	NR_136225.1	1	149
	NR_136226.1	1	149
	NR_136227.1	1	149
	NR_136228.1	1	149
	AK291664.1
	AK294046.1	1	149
	AK303319.1	1	51
	BC020697.1	1	54
	BC044586.1
	BC047327.1
	D50487.1	1	49	BAA09078.1
	DC310785.1	1	149

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2761959	Chr.17:43322294 - 43565935 on Build GRCh38	Gain	ETV4 MIR2117 ARL4D LINC00910 DHX8
nsv833453	Chr.17:43431629 - 43612561 on Build GRCh38	Gain+Loss	ETV4 MIR2117 DHX8
nsv470588	Chr.17:43346885 - 43616240 on Build GRCh38	Gain	ETV4 MIR2117 ARL4D LINC00910 DHX8
esv3640625	Chr.17:43361371 - 43577834 on Build GRCh38	Gain	ETV4 MIR2117 ARL4D LINC00910 DHX8
nsv1060861	Chr.17:43338154 - 43791949 on Build GRCh38	Gain	ETV4 MIR2117 ARL4D LINC00910 DHX8 C17orf105 MEOX1 SOST DUSP3
nsv833451	Chr.17:43329618 - 43499146 on Build GRCh38	Loss	MIR2117 ARL4D LINC00910 DHX8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA helicase

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
RNA processing
RNA splicing

Function(s)

ATP-dependent RNA helicase activity
protein binding
ATP binding
identical protein binding
poly(A) RNA binding