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

More Information

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

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding