Hs04669898_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131113811 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: Within Intron 2

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
	AK123710.1
	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	ARHGEF4 POTEE POTEI GPR148 POTEJ FAM168B AMER3 LOC440910 CFC1 TISP43 PLEKHB2 CYP4F30P
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	ARHGEF4 POTEE POTEI GPR148 FAM168B AMER3 LOC440910 PLEKHB2 CYP4F30P
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	ARHGEF4 NOC2LP2 POTEI MIR4784 POTEKP AMER3 LOC440910 MZT2A TUBA3D PLEKHB2 LINC01120 CYP4F30P POTEE WTH3DI GPR148 POTEJ FAM168B LOC150776 CCDC74A
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	ARHGEF4 POTEE WTH3DI POTEI GPR148 FAM168B AMER3 LOC440910 PLEKHB2
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	ARHGEF4 NOC2LP2 POTEI MIR4784 POTEKP C2orf27B C2orf27A LOC440910 MZT2A LINC01087 TUBA3D PLEKHB2 LINC01120 POTEE WTH3DI FAM168B LOC100507460 LOC150776 CCDC74A
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	ARHGEF4 POTEI FAM168B PLEKHB2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 POTEI GPR148 FAM168B AMER3 PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	ARHGEF4 POTEE POTEI GPR148 FAM168B AMER3 LOC440910 PLEKHB2 CYP4F30P
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 POTEI GPR148 FAM168B AMER3 PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	ARHGEF4 NOC2LP2 POTEI MIR4784 AMER3 LOC440910 MZT2A TUBA3D PLEKHB2 LINC01120 POTEE WTH3DI GPR148 FAM168B LOC150776 CCDC74A
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	POTEI FAM168B PLEKHB2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	ARHGEF4 NOC2LP2 POTEI MIR4784 AMER3 LOC440910 MZT2A TUBA3D PLEKHB2 LINC01120 CYP4F30P POTEE WTH3DI GPR148 POTEJ FAM168B LOC150776
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	MZT2B MIR4784 FAR2P2 RAB6C CCDC74B LOC107985778 C2orf27B CCDC115 C2orf27A TISP43 LOC101927924 PLEKHB2 RAB6C-AS1 POTEE WTH3DI POTEJ ARHGEF4 CFC1B NOC2LP1 FAR2P1 TUBA3D SMPD4 GPR148 IMP4 POTEF POTEI LOC389033 AMER3 LOC646743 MZT2A CYP4F30P MED15P9 FAM168B CYP4F62P LOC100507460 LOC150776 ANKRD30BL NOC2LP2 GPR39 POTEKP ZNF806 FAM201B PTPN18 LOC440910 TUBA3E LINC01087 LINC01120 MIR663B CCDC74A CFC1
dgv4076n100	Chr.2:131095274 - 131153308 on Build GRCh38	Gain	POTEI PLEKHB2

More Information

Additional Information:

For this assay, SNP(s) [rs111559310] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding