Hs02779913_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131125902 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 5 - Intron 5

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
	AK093730.1
	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	CYP4F30P FAM168B TISP43 LOC440910 POTEJ ARHGEF4 POTEI POTEE PLEKHB2 GPR148 AMER3 CFC1
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	CYP4F30P FAM168B LOC440910 ARHGEF4 POTEI POTEE PLEKHB2 GPR148 AMER3
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEKP FAM168B LOC440910 POTEJ CCDC74A ARHGEF4 PLEKHB2 MZT2A AMER3 MIR4784 CYP4F30P TUBA3D POTEI POTEE LOC150776 NOC2LP2 LINC01120 GPR148 WTH3DI
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	FAM168B LOC440910 ARHGEF4 PLEKHB2 MZT2A AMER3 MIR4784 TUBA3D POTEI POTEE LOC150776 NOC2LP2 LINC01120 GPR148 WTH3DI
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	FAM168B ARHGEF4 POTEI PLEKHB2
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	POTEKP FAM168B C2orf27B LOC440910 CCDC74A ARHGEF4 PLEKHB2 C2orf27A MZT2A MIR4784 TUBA3D POTEI POTEE LINC01087 LOC150776 NOC2LP2 LINC01120 LOC100507460 WTH3DI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B ARHGEF4 POTEI PLEKHB2 GPR148 AMER3
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	CYP4F30P FAM168B LOC440910 ARHGEF4 POTEI POTEE PLEKHB2 GPR148 AMER3
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B ARHGEF4 POTEI PLEKHB2 GPR148 AMER3
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	FAM168B POTEI PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	FAM168B LOC440910 CCDC74A ARHGEF4 PLEKHB2 MZT2A AMER3 MIR4784 TUBA3D POTEI POTEE LOC150776 NOC2LP2 LINC01120 GPR148 WTH3DI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	FAM168B LOC440910 POTEJ ARHGEF4 PLEKHB2 MZT2A AMER3 MIR4784 CYP4F30P TUBA3D POTEI POTEE LOC150776 NOC2LP2 LINC01120 GPR148 WTH3DI
dgv4076n100	Chr.2:131095274 - 131153308 on Build GRCh38	Gain	POTEI PLEKHB2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	CCDC115 TUBA3E C2orf27B ARHGEF4 IMP4 MIR4784 LOC107985778 LOC101927924 SMPD4 TUBA3D LOC389033 LOC150776 LINC01120 GPR148 MED15P9 CYP4F62P POTEKP NOC2LP1 LOC440910 GPR39 C2orf27A MZT2B FAM201B LOC646743 POTEI POTEE CCDC74B TISP43 POTEJ CCDC74A PLEKHB2 PTPN18 MZT2A AMER3 ANKRD30BL CFC1B FAR2P1 FAR2P2 NOC2LP2 LOC100507460 WTH3DI RAB6C-AS1 RAB6C MIR663B FAM168B POTEF ZNF806 CYP4F30P LINC01087 CFC1

More Information

Additional Information:

For this assay, SNP(s) [rs140535649] 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