Hs04654202_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131121701 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 3

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

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding