Hs00384404_cn

• Gene Symbol: RFX5
• Assay Reference Genome Location: Chr.1:151345191 on build GRCh38
• Cytoband: 1q21.3

Target Gene Details

• Entrez Gene ID: 5993
• Gene Name: regulatory factor X5
• Gene Aliases: -
• Location: Chr.1:151340640-151347319 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RFX5	NM_000449.3			NP_000440.1
	NM_001025603.1			NP_001020774.1
	XM_005245405.1			XP_005245462.1
	XM_005245406.3			XP_005245463.1
	XM_011509847.1			XP_011508149.1
	XM_011509848.1			XP_011508150.1
	XM_011509849.1			XP_011508151.1
	XM_011509850.1			XP_011508152.1
	XM_017001999.1			XP_016857488.1
	XM_017002000.1			XP_016857489.1
	AK223526.1			BAD97246.1
	AK302891.1
	AK309072.1
	AK311525.1
	AK312289.1
	BC017471.1			AAH17471.1
	BX423384.2
	X85786.1			CAA59771.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522840	Chr.1:150961247 - 151375270 on Build GRCh38	Gain	ANXA9 SCNM1 PRUNE1 BNIPL PIP5K1A CDC42SE1 LYSMD1 RFX5 C1orf56 TNFAIP8L2 SELENBP1 SETDB1 ZNF687 TMOD4 TNFAIP8L2-SCNM1 MLLT11 PI4KB LOC100507670 GBAT2 FAM63A GABPB2 CERS2 PSMD4 SEMA6C VPS72
esv34461	Chr.1:151268066 - 151439159 on Build GRCh38	Gain	PI4KB LOC100507670 RFX5 POGZ SELENBP1 GBAT2 ZNF687 PSMB4
nsv831581	Chr.1:151316675 - 151506129 on Build GRCh38	Loss	PI4KB RFX5 POGZ SELENBP1 GBAT2 PSMB4

More Information

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

Panther Classification:

Molecular Function -

winged helix/forkhead transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter

Function(s)

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