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

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