Hs04645759_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131109266 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	PLEKHB2 AMER3 CYP4F30P POTEE ARHGEF4 CFC1 LOC440910 FAM168B TISP43 POTEI POTEJ GPR148
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	PLEKHB2 AMER3 CYP4F30P POTEE ARHGEF4 LOC440910 FAM168B POTEI GPR148
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	AMER3 CYP4F30P POTEKP ARHGEF4 TUBA3D LOC150776 NOC2LP2 MZT2A WTH3DI FAM168B POTEI LINC01120 GPR148 PLEKHB2 POTEE MIR4784 LOC440910 CCDC74A POTEJ
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	PLEKHB2 AMER3 POTEE ARHGEF4 WTH3DI LOC440910 FAM168B POTEI GPR148
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	POTEKP ARHGEF4 TUBA3D LOC150776 NOC2LP2 MZT2A WTH3DI FAM168B POTEI LINC01120 LOC100507460 LINC01087 C2orf27B PLEKHB2 POTEE MIR4784 LOC440910 C2orf27A CCDC74A
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	PLEKHB2 ARHGEF4 FAM168B POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	PLEKHB2 AMER3 ARHGEF4 FAM168B POTEI GPR148
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	PLEKHB2 AMER3 CYP4F30P POTEE ARHGEF4 LOC440910 FAM168B POTEI GPR148
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	PLEKHB2 AMER3 ARHGEF4 FAM168B POTEI GPR148
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	AMER3 ARHGEF4 TUBA3D LOC150776 NOC2LP2 MZT2A WTH3DI FAM168B POTEI LINC01120 GPR148 PLEKHB2 POTEE MIR4784 LOC440910 CCDC74A
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	PLEKHB2 FAM168B POTEI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	AMER3 CYP4F30P ARHGEF4 TUBA3D LOC150776 NOC2LP2 MZT2A WTH3DI FAM168B POTEI LINC01120 GPR148 PLEKHB2 POTEE MIR4784 LOC440910 POTEJ
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	POTEKP CFC1 LOC150776 LINC01087 C2orf27B FAR2P2 POTEE PTPN18 NOC2LP1 LOC101927924 AMER3 CYP4F30P MIR663B WTH3DI FAM168B TISP43 LINC01120 CFC1B GPR39 LOC107985778 RAB6C IMP4 TUBA3D NOC2LP2 LOC646743 MZT2A ZNF806 LOC100507460 GPR148 ANKRD30BL RAB6C-AS1 MED15P9 TUBA3E POTEF MIR4784 CCDC74A POTEJ CYP4F62P ARHGEF4 FAM201B MZT2B LOC389033 POTEI PLEKHB2 CCDC74B SMPD4 FAR2P1 LOC440910 C2orf27A CCDC115
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