Hs03420702_cn

• Gene Symbol: RFX8
• Assay Reference Genome Location: Chr.2:101407996 on build GRCh38
• Cytoband: 2q11.2

Target Gene Details

• Entrez Gene ID: 731220
• Gene Name: RFX family member 8, lacking RFX DNA binding domain
• Gene Aliases: -
• Location: Chr.2:101397344-101475179 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RFX8	NM_001145664.1			NP_001139136.1
	XM_011511771.2			XP_011510073.1
	XM_011511772.1			XP_011510074.1
	XM_011511773.1			XP_011510075.1
	XM_011511776.1			XP_011510078.1
	XM_011511777.1			XP_011510079.1
	XM_011511778.1			XP_011510080.1
	XM_017004851.1			XP_016860340.1
	XM_017004852.1			XP_016860341.1
	XM_017004853.1			XP_016860342.1
	XM_017004854.1			XP_016860343.1
	AK124976.1			BAC86013.1
	AK131289.1			BAD18461.1
	AK298610.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892993	Chr.2:101281409 - 101650795 on Build GRCh38	Gain	CREG2 RFX8 RNF149 MIR5696
esv3591768	Chr.2:101403120 - 101434479 on Build GRCh38	Gain	RFX8
esv3591767	Chr.2:101402309 - 101533995 on Build GRCh38	Gain	RFX8

More Information

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

Panther Classification:

Molecular Function -

winged helix/forkhead transcription factor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
endocrine pancreas development

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcription factor activity, sequence-specific DNA binding