Hs05861783_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131106124 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	FAM168B AMER3 CYP4F30P GPR148 POTEJ LOC440910 POTEE TISP43 ARHGEF4 CFC1 POTEI PLEKHB2
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	FAM168B AMER3 CYP4F30P GPR148 LOC440910 POTEE ARHGEF4 POTEI PLEKHB2
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	TUBA3D LINC01120 NOC2LP2 POTEKP POTEE LOC150776 POTEI PLEKHB2 WTH3DI CCDC74A FAM168B AMER3 MZT2A CYP4F30P GPR148 MIR4784 POTEJ LOC440910 ARHGEF4
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	WTH3DI FAM168B AMER3 GPR148 LOC440910 POTEE ARHGEF4 POTEI PLEKHB2
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	TUBA3D LINC01087 LINC01120 NOC2LP2 POTEKP POTEE LOC150776 LOC100507460 POTEI PLEKHB2 C2orf27B WTH3DI CCDC74A FAM168B MZT2A MIR4784 LOC440910 ARHGEF4 C2orf27A
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	FAM168B ARHGEF4 POTEI PLEKHB2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B AMER3 GPR148 ARHGEF4 POTEI PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	FAM168B AMER3 CYP4F30P GPR148 LOC440910 POTEE ARHGEF4 POTEI PLEKHB2
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B AMER3 GPR148 ARHGEF4 POTEI PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	TUBA3D LINC01120 NOC2LP2 POTEE LOC150776 POTEI PLEKHB2 WTH3DI CCDC74A FAM168B AMER3 MZT2A GPR148 MIR4784 LOC440910 ARHGEF4
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	FAM168B POTEI PLEKHB2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	TUBA3D LINC01120 NOC2LP2 POTEE LOC150776 POTEI PLEKHB2 WTH3DI FAM168B AMER3 MZT2A CYP4F30P GPR148 MIR4784 POTEJ LOC440910 ARHGEF4
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	SMPD4 NOC2LP2 FAR2P2 CYP4F62P C2orf27B MZT2A GPR148 POTEJ LOC101927924 CFC1B ANKRD30BL MED15P9 LINC01120 POTEKP NOC2LP1 MZT2B RAB6C-AS1 PTPN18 GPR39 CCDC74A POTEF ARHGEF4 CCDC115 TUBA3D FAM201B TUBA3E LINC01087 POTEE LOC100507460 LOC646743 FAR2P1 AMER3 RAB6C LOC107985778 LOC440910 ZNF806 MIR663B LOC389033 LOC150776 POTEI PLEKHB2 WTH3DI FAM168B CYP4F30P MIR4784 TISP43 CCDC74B C2orf27A CFC1 IMP4
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