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

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