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