Hs04653620_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131123052 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 POTEE TISP43 CFC1 AMER3 LOC440910 CYP4F30P POTEJ ARHGEF4 GPR148 FAM168B POTEI
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	PLEKHB2 POTEE AMER3 LOC440910 CYP4F30P ARHGEF4 GPR148 FAM168B POTEI
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	PLEKHB2 CYP4F30P GPR148 TUBA3D POTEI POTEE LINC01120 NOC2LP2 WTH3DI AMER3 LOC440910 POTEJ MIR4784 CCDC74A LOC150776 ARHGEF4 FAM168B POTEKP MZT2A
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	PLEKHB2 POTEE WTH3DI AMER3 LOC440910 ARHGEF4 GPR148 FAM168B POTEI
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	PLEKHB2 LINC01087 TUBA3D POTEI POTEE LINC01120 NOC2LP2 WTH3DI LOC440910 C2orf27A LOC100507460 MIR4784 CCDC74A LOC150776 ARHGEF4 C2orf27B FAM168B POTEKP MZT2A
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 GPR148 FAM168B POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	PLEKHB2 POTEE AMER3 LOC440910 CYP4F30P ARHGEF4 GPR148 FAM168B POTEI
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	PLEKHB2 AMER3 ARHGEF4 GPR148 FAM168B POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	PLEKHB2 GPR148 TUBA3D POTEI POTEE LINC01120 NOC2LP2 WTH3DI AMER3 LOC440910 MIR4784 CCDC74A LOC150776 ARHGEF4 FAM168B MZT2A
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	PLEKHB2 FAM168B POTEI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	PLEKHB2 CYP4F30P GPR148 TUBA3D POTEI POTEE LINC01120 NOC2LP2 WTH3DI AMER3 LOC440910 POTEJ MIR4784 LOC150776 ARHGEF4 FAM168B MZT2A
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	TISP43 RAB6C-AS1 ANKRD30BL FAM201B LINC01120 CCDC115 WTH3DI LOC100507460 NOC2LP1 RAB6C ARHGEF4 C2orf27B CCDC74B IMP4 LINC01087 POTEF CYP4F30P POTEI MIR663B LOC440910 CYP4F62P LOC646743 ZNF806 MIR4784 LOC101927924 CCDC74A TUBA3E PLEKHB2 FAR2P2 GPR39 GPR148 LOC389033 MZT2B POTEJ SMPD4 CFC1B POTEKP CFC1 FAR2P1 LOC107985778 TUBA3D POTEE MED15P9 NOC2LP2 AMER3 PTPN18 C2orf27A LOC150776 FAM168B MZT2A
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