Hs05864354_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131116040 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 2

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
	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	ARHGEF4 POTEI GPR148 POTEE AMER3 CFC1 PLEKHB2 CYP4F30P FAM168B POTEJ LOC440910 TISP43
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	ARHGEF4 POTEI GPR148 POTEE AMER3 PLEKHB2 CYP4F30P FAM168B LOC440910
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	CCDC74A GPR148 LOC150776 POTEE PLEKHB2 CYP4F30P LINC01120 POTEJ LOC440910 ARHGEF4 POTEI MZT2A AMER3 POTEKP WTH3DI MIR4784 TUBA3D FAM168B NOC2LP2
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	GPR148 LOC150776 POTEE PLEKHB2 LINC01120 LOC440910 ARHGEF4 POTEI MZT2A AMER3 WTH3DI MIR4784 TUBA3D FAM168B NOC2LP2
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	ARHGEF4 POTEI PLEKHB2 FAM168B
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	CCDC74A LOC150776 POTEE PLEKHB2 LINC01120 LINC01087 LOC440910 C2orf27A C2orf27B LOC100507460 ARHGEF4 POTEI MZT2A POTEKP WTH3DI MIR4784 TUBA3D FAM168B NOC2LP2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 POTEI GPR148 AMER3 PLEKHB2 FAM168B
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	ARHGEF4 POTEI GPR148 POTEE AMER3 PLEKHB2 CYP4F30P FAM168B LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 POTEI GPR148 AMER3 PLEKHB2 FAM168B
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	POTEI PLEKHB2 FAM168B
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	CCDC74A GPR148 LOC150776 POTEE PLEKHB2 LINC01120 LOC440910 ARHGEF4 POTEI MZT2A AMER3 WTH3DI MIR4784 TUBA3D FAM168B NOC2LP2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	GPR148 LOC150776 POTEE PLEKHB2 CYP4F30P LINC01120 POTEJ LOC440910 ARHGEF4 POTEI MZT2A AMER3 WTH3DI MIR4784 TUBA3D FAM168B NOC2LP2
dgv4076n100	Chr.2:131095274 - 131153308 on Build GRCh38	Gain	POTEI PLEKHB2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	NOC2LP1 GPR148 POTEE PLEKHB2 RAB6C LINC01120 LINC01087 CCDC115 PTPN18 LOC107985778 POTEJ ZNF806 ARHGEF4 POTEI LOC646743 POTEKP TUBA3D LOC101927924 FAM168B CCDC74A MIR663B LOC150776 MZT2B GPR39 IMP4 WTH3DI NOC2LP2 FAR2P1 TUBA3E MED15P9 CYP4F30P C2orf27A FAR2P2 C2orf27B AMER3 POTEF ANKRD30BL CFC1B FAM201B CFC1 RAB6C-AS1 CCDC74B SMPD4 LOC440910 TISP43 LOC100507460 MZT2A LOC389033 MIR4784 CYP4F62P

More Information

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

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding