Hs04556411_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131107282 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 1

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
	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	ARHGEF4 GPR148 LOC440910 TISP43 AMER3 POTEJ POTEI FAM168B CYP4F30P CFC1 PLEKHB2 POTEE
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	ARHGEF4 GPR148 LOC440910 AMER3 POTEI FAM168B CYP4F30P PLEKHB2 POTEE
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	GPR148 POTEKP CCDC74A AMER3 POTEJ LINC01120 FAM168B CYP4F30P MIR4784 POTEE WTH3DI ARHGEF4 NOC2LP2 LOC440910 LOC150776 POTEI MZT2A TUBA3D PLEKHB2
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	WTH3DI ARHGEF4 GPR148 LOC440910 AMER3 POTEI FAM168B PLEKHB2 POTEE
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	POTEKP CCDC74A LINC01120 FAM168B LOC100507460 MIR4784 POTEE C2orf27B WTH3DI ARHGEF4 NOC2LP2 LOC440910 LOC150776 POTEI MZT2A LINC01087 TUBA3D C2orf27A PLEKHB2
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	ARHGEF4 POTEI FAM168B PLEKHB2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 GPR148 AMER3 POTEI FAM168B PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	ARHGEF4 GPR148 LOC440910 AMER3 POTEI FAM168B CYP4F30P PLEKHB2 POTEE
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 GPR148 AMER3 POTEI FAM168B PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	GPR148 CCDC74A AMER3 LINC01120 FAM168B MIR4784 POTEE WTH3DI ARHGEF4 NOC2LP2 LOC440910 LOC150776 POTEI MZT2A TUBA3D PLEKHB2
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	POTEI FAM168B PLEKHB2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	GPR148 AMER3 POTEJ LINC01120 FAM168B CYP4F30P MIR4784 POTEE WTH3DI ARHGEF4 NOC2LP2 LOC440910 LOC150776 POTEI MZT2A TUBA3D PLEKHB2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	CYP4F62P SMPD4 POTEJ MED15P9 CFC1B CYP4F30P NOC2LP1 ZNF806 MZT2B LINC01087 TUBA3D PLEKHB2 CCDC74B POTEF RAB6C LOC101927924 LOC389033 LINC01120 LOC107985778 MIR4784 ANKRD30BL MZT2A CFC1 IMP4 TUBA3E GPR39 POTEKP CCDC74A AMER3 PTPN18 RAB6C-AS1 LOC100507460 POTEE C2orf27B LOC440910 POTEI CCDC115 C2orf27A GPR148 MIR663B TISP43 LOC646743 FAM168B FAM201B FAR2P2 WTH3DI ARHGEF4 NOC2LP2 LOC150776 FAR2P1
dgv4076n100	Chr.2:131095274 - 131153308 on Build GRCh38	Gain	POTEI PLEKHB2

More Information

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

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding