Hs02260063_cn

• Gene Symbol: EFNB1
• Assay Reference Genome Location: Chr.X:68841139 on build GRCh38
• Cytoband: Xq13.1

Target Gene Details

• Entrez Gene ID: 1947
• Gene Name: ephrin B1
• Gene Aliases: CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2
• Location: Chr.X:68828997-68842164 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFNB1	NM_004429.4	5	2306	NP_004420.1
	BC016649.1	5	2306	AAH16649.1
	BC052979.1	5	2325	AAH52979.1
	CB132233.1	1	97
	U09303.1	5	2227	AAB41127.1
	U09304.1	5	1833	AAA53093.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516469	Chr.X:68640253 - 68949573 on Build GRCh38	Gain	EFNB1 STARD8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane-bound signaling molecule

Gene Ontology Categories:

Process(es)

neural crest cell migration
cell adhesion
cell-cell signaling
axon guidance
embryonic pattern specification
T cell costimulation
positive regulation of T cell proliferation
ephrin receptor signaling pathway

Function(s)

protein binding
ephrin receptor binding