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

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