Hs02996247_cn

• Gene Symbol: ENAH
• Assay Reference Genome Location: Chr.1:225488730 on build GRCh38
• Cytoband: 1q42.12

Target Gene Details

• Entrez Gene ID: 55740
• Gene Name: enabled homolog (Drosophila)
• Gene Aliases: ENA, MENA, NDPP1
• Location: Chr.1:225486832-225660045 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ENAH	NM_001008493.1	15	11274	NP_001008493.1
	NM_018212.4	14	11211	NP_060682.2
	XM_005273187.2	16	11314	XP_005273244.1
	XM_017001746.1	17	12549	XP_016857235.1
	XM_017001751.1	14	11559	XP_016857240.1
	XM_017001753.1	18	11353	XP_016857242.1
	XM_017001754.1	17	11297	XP_016857243.1
	XM_017001755.1	17	11040	XP_016857244.1
	XM_017001756.1	15	10971	XP_016857245.1
	XM_017001757.1	15	10874	XP_016857246.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1004851	Chr.1:225426438 - 225496482 on Build GRCh38	Gain	LBR ENAH
nsv433350	Chr.1:225477582 - 225498323 on Build GRCh38	Gain	ENAH
nsv826842	Chr.1:225470360 - 225498884 on Build GRCh38	Gain	ENAH
esv3588992	Chr.1:225469902 - 225499153 on Build GRCh38	Gain	ENAH
esv3575750	Chr.1:225471464 - 225496482 on Build GRCh38	Gain	ENAH
nsv832714	Chr.1:225404631 - 225617694 on Build GRCh38	Loss	LBR ENAH
nsv4720	Chr.1:225485516 - 225530307 on Build GRCh38	Deletion	ENAH
nsv8880	Chr.1:225468706 - 225500008 on Build GRCh38	Gain	ENAH
esv2759003	Chr.1:225477992 - 225515783 on Build GRCh38	Gain	ENAH
esv34905	Chr.1:225443702 - 225488880 on Build GRCh38	Gain	ENAH
nsv441740	Chr.1:225471515 - 225496494 on Build GRCh38	Gain	ENAH

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

axon guidance

Function(s)

actin binding
protein binding
SH3 domain binding
WW domain binding