Hs05845679_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131124433 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 4

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

More Information

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

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding