Hs01801060_cn

• Gene Symbol: DHX8
• Assay Reference Genome Location: Chr.17:43529169 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 Intron 25

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DHX8	NM_001322219.1			NP_001309148.1

Target Gene Details

• Entrez Gene ID: 2118
• Gene Name: ETS variant 4
• Gene Aliases: E1A-F, E1AF, PEA3, PEAS3
• Location: Chr.17:43527843-43546432 on Build GRCh38
• Assay Gene Location: Overlaps Intron 13 - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ETV4	NM_001079675.2			NP_001073143.1
	NM_001261437.1			NP_001248366.1
	NM_001261438.1			NP_001248367.1
	NM_001261439.1			NP_001248368.1
	NM_001986.2			NP_001977.1
	XM_011524514.1			XP_011522816.1
	XM_017024349.1			XP_016879838.1
	AK290429.1
	AK298872.1
	AK299019.1
	AK312934.1
	AK315961.1
	BC016623.1			AAH16623.1
	BF304101.1
	D12765.1			BAA02234.1
	U18018.1			AAA95991.1

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	LINC00910 ARL4D MIR2117 ETV4 DHX8
nsv833453	Chr.17:43431629 - 43612561 on Build GRCh38	Gain+Loss	MIR2117 ETV4 DHX8
esv3640630	Chr.17:43500927 - 43550600 on Build GRCh38	Gain	ETV4 DHX8
nsv470588	Chr.17:43346885 - 43616240 on Build GRCh38	Gain	LINC00910 ARL4D MIR2117 ETV4 DHX8
esv3640625	Chr.17:43361371 - 43577834 on Build GRCh38	Gain	LINC00910 ARL4D MIR2117 ETV4 DHX8
nsv1060861	Chr.17:43338154 - 43791949 on Build GRCh38	Gain	DUSP3 LINC00910 ARL4D MIR2117 MEOX1 SOST ETV4 C17orf105 DHX8

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA helicase, winged helix/forkhead transcription factor

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
RNA processing
RNA splicing
transcription from RNA polymerase II promoter
motor neuron axon guidance
cell differentiation
negative regulation of mammary gland epithelial cell proliferation
positive regulation of transcription from RNA polymerase II promoter
stem cell differentiation
branching involved in mammary gland duct morphogenesis
regulation of branching involved in mammary gland duct morphogenesis

Function(s)

ATP-dependent RNA helicase activity
protein binding
ATP binding
identical protein binding
poly(A) RNA binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding