Hs04558963_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131122352 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	PLEKHB2 LOC440910 GPR148 POTEI ARHGEF4 POTEJ POTEE CFC1 FAM168B AMER3 CYP4F30P TISP43
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	PLEKHB2 LOC440910 GPR148 POTEI ARHGEF4 POTEE FAM168B AMER3 CYP4F30P
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	WTH3DI ARHGEF4 POTEJ TUBA3D POTEKP PLEKHB2 LINC01120 LOC440910 GPR148 LOC150776 MZT2A POTEI NOC2LP2 POTEE MIR4784 FAM168B AMER3 CYP4F30P CCDC74A
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	PLEKHB2 LOC440910 GPR148 WTH3DI POTEI ARHGEF4 POTEE FAM168B AMER3
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	LOC100507460 C2orf27A WTH3DI ARHGEF4 C2orf27B TUBA3D POTEKP PLEKHB2 LINC01120 LOC440910 LOC150776 MZT2A POTEI NOC2LP2 POTEE MIR4784 FAM168B LINC01087 CCDC74A
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	PLEKHB2 POTEI ARHGEF4 FAM168B
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	PLEKHB2 GPR148 POTEI ARHGEF4 FAM168B AMER3
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	PLEKHB2 LOC440910 GPR148 POTEI ARHGEF4 POTEE FAM168B AMER3 CYP4F30P
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	PLEKHB2 GPR148 POTEI ARHGEF4 FAM168B AMER3
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	WTH3DI ARHGEF4 TUBA3D PLEKHB2 LINC01120 LOC440910 GPR148 LOC150776 MZT2A POTEI NOC2LP2 POTEE MIR4784 FAM168B AMER3 CCDC74A
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	PLEKHB2 POTEI FAM168B
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	WTH3DI ARHGEF4 POTEJ TUBA3D PLEKHB2 LINC01120 LOC440910 GPR148 LOC150776 MZT2A POTEI NOC2LP2 POTEE MIR4784 FAM168B AMER3 CYP4F30P
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	ZNF806 ARHGEF4 POTEKP PLEKHB2 GPR148 CFC1B RAB6C-AS1 CCDC74A MZT2B LOC646743 CYP4F62P POTEI IMP4 RAB6C FAR2P2 MIR663B AMER3 LINC01087 CYP4F30P TISP43 LOC107985778 TUBA3E LOC100507460 C2orf27A FAM201B CCDC115 C2orf27B TUBA3D NOC2LP1 CFC1 LOC150776 MZT2A MED15P9 SMPD4 LOC101927924 WTH3DI CCDC74B POTEJ FAR2P1 LOC389033 LINC01120 LOC440910 POTEF NOC2LP2 PTPN18 POTEE MIR4784 FAM168B GPR39 ANKRD30BL
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