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	POTEJ GPR148 CFC1 CYP4F30P FAM168B ARHGEF4 TISP43 PLEKHB2 AMER3 POTEI LOC440910 POTEE
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	GPR148 CYP4F30P FAM168B ARHGEF4 PLEKHB2 AMER3 POTEI LOC440910 POTEE
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	GPR148 MIR4784 WTH3DI ARHGEF4 MZT2A PLEKHB2 POTEI LINC01120 TUBA3D LOC440910 NOC2LP2 POTEJ CYP4F30P FAM168B POTEKP CCDC74A LOC150776 AMER3 POTEE
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	GPR148 FAM168B WTH3DI ARHGEF4 PLEKHB2 AMER3 POTEI LOC440910 POTEE
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	MIR4784 WTH3DI ARHGEF4 MZT2A PLEKHB2 POTEI LINC01120 TUBA3D C2orf27B LOC440910 NOC2LP2 LOC100507460 FAM168B POTEKP CCDC74A C2orf27A LINC01087 LOC150776 POTEE
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	FAM168B ARHGEF4 PLEKHB2 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 PLEKHB2 AMER3 POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	GPR148 CYP4F30P FAM168B ARHGEF4 PLEKHB2 AMER3 POTEI LOC440910 POTEE
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 PLEKHB2 AMER3 POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	GPR148 MIR4784 WTH3DI ARHGEF4 MZT2A PLEKHB2 POTEI LINC01120 TUBA3D LOC440910 NOC2LP2 FAM168B CCDC74A LOC150776 AMER3 POTEE
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	FAM168B PLEKHB2 POTEI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	GPR148 MIR4784 WTH3DI ARHGEF4 MZT2A PLEKHB2 POTEI LINC01120 TUBA3D LOC440910 NOC2LP2 POTEJ CYP4F30P FAM168B LOC150776 AMER3 POTEE
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC389033 MZT2B CCDC74B IMP4 CYP4F62P TUBA3D LOC440910 LOC646743 POTEF GPR39 CYP4F30P LOC150776 PTPN18 LOC101927924 CFC1 MIR4784 CCDC115 NOC2LP1 FAM168B C2orf27A TUBA3E GPR148 FAM201B RAB6C-AS1 PLEKHB2 POTEI C2orf27B NOC2LP2 LOC107985778 LOC100507460 POTEKP CCDC74A LINC01087 SMPD4 ANKRD30BL CFC1B WTH3DI ARHGEF4 TISP43 MZT2A LINC01120 POTEJ ZNF806 FAR2P2 FAR2P1 MIR663B MED15P9 AMER3 RAB6C POTEE
dgv4076n100	Chr.2:131095274 - 131153308 on Build GRCh38	Gain	PLEKHB2 POTEI

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