Hs00213126_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131105387 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 55041
• Gene Name: pleckstrin homology domain containing B2
• Gene Aliases: EVT2
• Location: Chr.2:131104847-131149852 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHB2	NM_001100623.1			NP_001094093.1
	NM_001267062.1			NP_001253991.1
	NM_001267063.1			NP_001253992.1
	NM_001267064.1			NP_001253993.1
	NM_001267065.1			NP_001253994.1
	NM_001267066.1			NP_001253995.1
	NM_001267067.1			NP_001253996.1
	NM_001267068.1			NP_001253997.1
	NM_001309448.1			NP_001296377.1
	NM_001309450.1			NP_001296379.1
	NM_001309451.1			NP_001296380.1
	NM_001309452.1			NP_001296381.1
	NM_017958.2			NP_060428.2
	XM_011511385.2			XP_011509687.1
	XM_011511386.2			XP_011509688.1
	XM_017004408.1			XP_016859897.1
	XM_017004409.1			XP_016859898.1
	XM_017004410.1			XP_016859899.1
	XM_017004411.1			XP_016859900.1
	XM_017004412.1			XP_016859901.1
	XM_017004413.1			XP_016859902.1
	AK000790.1			BAA91379.1
	AK126289.1
	AK223338.1			BAD97058.1
	AK293880.1
	AK296008.1
	AK302770.1
	BC001428.1			AAH01428.1
	BC013991.2			AAH13991.1
	BC050695.1			AAH50695.2
	BP362174.1
	BQ052811.1
	BQ649140.1
	BU174451.1
	CK000843.1
	DB294071.1
	DC303684.1

Target Gene Details

• Entrez Gene ID: 653269
• Gene Name: POTE ankyrin domain family member I
• Gene Aliases: POTE2beta
• Location: Chr.2:130462245-131626428 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POTEI

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4074n100	Chr.2:130550793 - 131291209 on Build GRCh38	Gain	POTEI FAM168B TISP43 POTEE CYP4F30P LOC440910 PLEKHB2 GPR148 POTEJ AMER3 ARHGEF4 CFC1
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	POTEI FAM168B POTEE CYP4F30P LOC440910 PLEKHB2 GPR148 AMER3 ARHGEF4
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEE CYP4F30P CCDC74A LOC440910 POTEKP PLEKHB2 LINC01120 POTEJ AMER3 TUBA3D WTH3DI POTEI LOC150776 NOC2LP2 FAM168B MIR4784 MZT2A GPR148 ARHGEF4
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	POTEE LOC440910 PLEKHB2 LINC01120 AMER3 TUBA3D WTH3DI POTEI LOC150776 NOC2LP2 FAM168B MIR4784 MZT2A GPR148 ARHGEF4
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	POTEI FAM168B PLEKHB2 ARHGEF4
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	POTEE LINC01087 CCDC74A LOC440910 POTEKP PLEKHB2 C2orf27A LOC100507460 LINC01120 TUBA3D WTH3DI POTEI LOC150776 NOC2LP2 FAM168B MIR4784 MZT2A C2orf27B ARHGEF4
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	POTEI FAM168B PLEKHB2 GPR148 AMER3 ARHGEF4
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	POTEI FAM168B POTEE CYP4F30P LOC440910 PLEKHB2 GPR148 AMER3 ARHGEF4
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	POTEI FAM168B PLEKHB2 GPR148 AMER3 ARHGEF4
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	POTEI FAM168B PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	POTEE CCDC74A LOC440910 PLEKHB2 LINC01120 AMER3 TUBA3D WTH3DI POTEI LOC150776 NOC2LP2 FAM168B MIR4784 MZT2A GPR148 ARHGEF4
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	POTEE CYP4F30P LOC440910 PLEKHB2 LINC01120 POTEJ AMER3 TUBA3D WTH3DI POTEI LOC150776 NOC2LP2 FAM168B MIR4784 MZT2A GPR148 ARHGEF4
dgv4076n100	Chr.2:131095274 - 131153308 on Build GRCh38	Gain	POTEI PLEKHB2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC646743 LINC01087 CYP4F30P CYP4F62P FAR2P1 C2orf27A MIR663B LOC107985778 POTEJ TISP43 C2orf27B CFC1B SMPD4 ARHGEF4 LOC101927924 RAB6C NOC2LP2 MIR4784 ANKRD30BL MZT2A MZT2B TUBA3E MED15P9 LOC389033 POTEKP AMER3 WTH3DI POTEI LOC150776 ZNF806 FAM168B RAB6C-AS1 POTEF FAR2P2 CFC1 GPR39 POTEE NOC2LP1 CCDC74A PTPN18 LOC440910 PLEKHB2 CCDC74B LOC100507460 LINC01120 TUBA3D IMP4 CCDC115 FAM201B GPR148

More Information

Additional Information:

For this assay, SNP(s) [rs186631353] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding