Hs02204655_cn

• Gene Symbol: EPHB4
• Assay Reference Genome Location: Chr.7:100802846 on build GRCh38
• Cytoband: 7q22.1

Target Gene Details

• Entrez Gene ID: 2050
• Gene Name: EPH receptor B4
• Gene Aliases: HTK, MYK1, TYRO11
• Location: Chr.7:100802565-100827521 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPHB4	NM_004444.4	17	4070	NP_004435.3
	XM_017011816.1	17	3727	XP_016867305.1
	AB209644.1	16	4780	BAD92881.1
	AY056048.1	16	3508	AAL14195.1
	BC052804.1	17	3747	AAH52804.1
	U07695.1	17	3664	AAA20598.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470381	Chr.7:100642568 - 100834358 on Build GRCh38	Loss	EPO GNB2 POP7 ACTL6B LOC105375429 EPHB4 GIGYF1 TFR2 ZAN
esv2759547	Chr.7:100757867 - 101105965 on Build GRCh38	Gain+Loss	MUC17 MIR6875 UFSP1 EPHB4 MUC3A ACHE MUC12 SRRT LOC102724094 SLC12A9 TRIP6 ZAN TRIM56
esv2734888	Chr.7:99975623 - 101290285 on Build GRCh38	Deletion	MIR6875 GNB2 PILRA AZGP1 AP4M1 STAG3L5P-PVRIG2P-PILRB LOC102724094 FBXO24 PCOLCE PVRIG POP7 C7orf43 GATS GPC2 AP1S1 MIR4653 MBLAC1 MCM7 ZSCAN21 EPHB4 PLOD3 LAMTOR4 TFR2 SRRT C7orf61 TAF6 MIR106B PMS2P1 ZNF3 STAG3L5P AZGP1P1 TRIP6 MEPCE LRCH4 ZAN MUC17 SERPINE1 FIS1 NAT16 UFSP1 PCOLCE-AS1 GIGYF1 MIR25 ACHE MOGAT3 PVRIG2P AGFG2 SPDYE3 CLDN15 MIR6840 GAL3ST4 SAP25 TRIM56 CNPY4 ACTL6B MOSPD3 MIR4658 MUC3A PPP1R35 MUC12 VGF ZCWPW1 EPO ZKSCAN1 LOC105375429 COPS6 SLC12A9 MIR93 ZNHIT1 NYAP1 TSC22D4 ZASP STAG3 PILRB
nsv607965	Chr.7:100776465 - 100899511 on Build GRCh38	Loss	MIR6875 UFSP1 EPHB4 SLC12A9 ACHE TRIP6 SRRT ZAN
nsv1020837	Chr.7:100715499 - 100911015 on Build GRCh38	Loss	MIR6875 EPO UFSP1 EPHB4 SLC12A9 ACHE TRIP6 SRRT ZAN
nsv951388	Chr.7:100741378 - 100838178 on Build GRCh38	Deletion	EPHB4 ZAN

More Information

Additional Information:

For this assay, SNP(s) [rs76600840] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

angiogenesis
cell migration involved in sprouting angiogenesis
heart morphogenesis
cell adhesion
peptidyl-tyrosine phosphorylation
protein autophosphorylation
ephrin receptor signaling pathway

Function(s)

transmembrane receptor protein tyrosine kinase activity
ephrin receptor activity
protein binding
ATP binding