Hs05789625_cn

• Gene Symbol: ESPN
• Assay Reference Genome Location: Chr.1:6425652 on build GRCh38
• Cytoband: 1p36.31

Target Gene Details

• Entrez Gene ID: 83715
• Gene Name: espin
• Gene Aliases: DFNB36, LP2654
• Location: Chr.1:6424776-6461367 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESPN	NM_031475.2			NP_113663.2
	XM_005263501.2			XP_005263558.1
	XM_011542231.1			XP_011540533.1
	XM_011542232.1			XP_011540534.1
	XM_011542237.1			XP_011540539.1
	XM_011542238.2			XP_011540540.1
	XM_017002433.1			XP_016857922.1
	XM_017002434.1			XP_016857923.1
	AL136880.1			CAB66814.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1009548	Chr.1:6342976 - 6517352 on Build GRCh38	Loss	ACOT7 HES2 TNFRSF25 ESPN MIR4252 PLEKHG5
dgv80n54	Chr.1:6396412 - 6512115 on Build GRCh38	Loss	HES2 TNFRSF25 ESPN MIR4252 PLEKHG5
nsv482179	Chr.1:6424788 - 6460943 on Build GRCh38	Gain	ESPN MIR4252
nsv954048	Chr.1:6414241 - 6500740 on Build GRCh38	Deletion	HES2 TNFRSF25 ESPN MIR4252 PLEKHG5
nsv7880	Chr.1:6417968 - 6611914 on Build GRCh38	Gain+Loss	TAS1R1 NOL9 ZBTB48 HES2 KLHL21 TNFRSF25 ESPN MIR4252 PLEKHG5
nsv545240	Chr.1:6351154 - 6512115 on Build GRCh38	Loss	ACOT7 HES2 TNFRSF25 ESPN MIR4252 PLEKHG5
esv25412	Chr.1:6416568 - 6461456 on Build GRCh38	Gain+Loss	HES2 TNFRSF25 ESPN MIR4252
nsv508836	Chr.1:6406896 - 6501029 on Build GRCh38	Insertion	HES2 TNFRSF25 ESPN MIR4252 PLEKHG5

More Information

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

Panther Classification:

Molecular Function -

non-motor actin binding protein

Gene Ontology Categories:

Process(es)

sensory perception of sound
locomotory behavior
parallel actin filament bundle assembly
positive regulation of filopodium assembly
negative regulation of cytoskeleton organization

Function(s)

SH3 domain binding
actin filament binding