Hs04648091_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131125347 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	GPR148 FAM168B ARHGEF4 LOC440910 POTEI POTEE AMER3 POTEJ CYP4F30P TISP43 CFC1 PLEKHB2
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	GPR148 FAM168B ARHGEF4 LOC440910 POTEI POTEE AMER3 CYP4F30P PLEKHB2
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	GPR148 FAM168B ARHGEF4 LOC440910 POTEKP WTH3DI CYP4F30P NOC2LP2 MZT2A PLEKHB2 TUBA3D POTEI MIR4784 POTEE AMER3 POTEJ LOC150776 LINC01120 CCDC74A
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 LOC440910 POTEI POTEE AMER3 WTH3DI PLEKHB2
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	FAM168B ARHGEF4 LOC440910 POTEKP C2orf27A WTH3DI NOC2LP2 MZT2A PLEKHB2 LINC01087 TUBA3D POTEI MIR4784 POTEE LOC100507460 C2orf27B LOC150776 LINC01120 CCDC74A
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	FAM168B ARHGEF4 POTEI PLEKHB2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 POTEI AMER3 PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	GPR148 FAM168B ARHGEF4 LOC440910 POTEI POTEE AMER3 CYP4F30P PLEKHB2
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 POTEI AMER3 PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 LOC440910 WTH3DI NOC2LP2 MZT2A PLEKHB2 TUBA3D POTEI MIR4784 POTEE AMER3 LOC150776 LINC01120 CCDC74A
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	FAM168B POTEI PLEKHB2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	GPR148 FAM168B ARHGEF4 LOC440910 WTH3DI CYP4F30P NOC2LP2 MZT2A PLEKHB2 TUBA3D POTEI MIR4784 POTEE AMER3 POTEJ LOC150776 LINC01120
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	PTPN18 LOC440910 POTEF CYP4F62P MZT2A CFC1 MED15P9 TUBA3E AMER3 LOC646743 FAR2P1 LOC150776 FAM168B ZNF806 MZT2B NOC2LP2 LINC01087 POTEI LOC389033 SMPD4 CCDC74A ARHGEF4 GPR39 WTH3DI CYP4F30P CCDC74B NOC2LP1 FAM201B ANKRD30BL LOC101927924 LOC100507460 C2orf27B IMP4 LOC107985778 GPR148 CCDC115 POTEKP C2orf27A FAR2P2 MIR663B CFC1B PLEKHB2 TUBA3D RAB6C-AS1 MIR4784 POTEE POTEJ TISP43 RAB6C LINC01120
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