Hs00048383_cn

• Gene Symbol: EYA4
• Assay Reference Genome Location: Chr.6:133241362 on build GRCh38
• Cytoband: 6q23.2

Target Gene Details

• Entrez Gene ID: 2070
• Gene Name: EYA transcriptional coactivator and phosphatase 4
• Gene Aliases: CMD1J, DFNA10
• Location: Chr.6:133240340-133532120 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EYA4	NM_004100.4			NP_004091.3
	NM_172103.3			NP_742101.2
	NM_172105.3			NP_742103.1
	XM_017010368.1			XP_016865857.1
	XM_017010374.1			XP_016865863.1
	XM_017010375.1			XP_016865864.1
	AK295798.1
	AK301950.1
	BX490250.1
	Y17114.1			CAA76636.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv5483	Chr.6:133233165 - 133278200 on Build GRCh38	Deletion	EYA4
nsv470862	Chr.6:133171368 - 133279264 on Build GRCh38	Loss	EYA4
esv2759470	Chr.6:133123580 - 133306226 on Build GRCh38	Loss	EYA4

More Information

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

Gene Ontology Categories:

Process(es)

DNA repair
transcription, DNA-templated
regulation of transcription, DNA-templated
multicellular organism development
visual perception
sensory perception of sound
anatomical structure morphogenesis
covalent chromatin modification
peptidyl-tyrosine dephosphorylation

Function(s)

protein tyrosine phosphatase activity
protein binding
metal ion binding