Hs01746834_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131120953 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: Overlaps Intron 2 - 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	GPR148 LOC440910 FAM168B ARHGEF4 POTEE POTEJ AMER3 CYP4F30P PLEKHB2 TISP43 POTEI CFC1
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	GPR148 LOC440910 FAM168B ARHGEF4 POTEE AMER3 CYP4F30P PLEKHB2 POTEI
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	NOC2LP2 POTEE WTH3DI AMER3 CYP4F30P PLEKHB2 LINC01120 CCDC74A MZT2A GPR148 LOC440910 FAM168B ARHGEF4 TUBA3D POTEKP POTEJ MIR4784 LOC150776 POTEI
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	GPR148 LOC440910 FAM168B ARHGEF4 POTEE WTH3DI AMER3 PLEKHB2 POTEI
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	NOC2LP2 POTEE LOC100507460 WTH3DI PLEKHB2 LINC01120 CCDC74A MZT2A LOC440910 FAM168B LINC01087 C2orf27A ARHGEF4 TUBA3D POTEKP C2orf27B MIR4784 LOC150776 POTEI
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	FAM168B ARHGEF4 PLEKHB2 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 AMER3 PLEKHB2 POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	GPR148 LOC440910 FAM168B ARHGEF4 POTEE AMER3 CYP4F30P PLEKHB2 POTEI
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	GPR148 FAM168B ARHGEF4 AMER3 PLEKHB2 POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	NOC2LP2 POTEE WTH3DI AMER3 PLEKHB2 LINC01120 CCDC74A MZT2A GPR148 LOC440910 FAM168B ARHGEF4 TUBA3D MIR4784 LOC150776 POTEI
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	FAM168B PLEKHB2 POTEI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	NOC2LP2 POTEE WTH3DI AMER3 CYP4F30P PLEKHB2 LINC01120 MZT2A GPR148 LOC440910 FAM168B ARHGEF4 TUBA3D POTEJ MIR4784 LOC150776 POTEI
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	IMP4 NOC2LP2 NOC2LP1 AMER3 CYP4F30P MIR663B MZT2A POTEJ LOC150776 RAB6C-AS1 TISP43 CCDC74B POTEE PTPN18 CCDC115 PLEKHB2 CFC1 MIR4784 LOC646743 SMPD4 POTEI POTEF LOC100507460 CFC1B ZNF806 RAB6C CCDC74A CYP4F62P FAM168B ARHGEF4 TUBA3D LOC107985778 FAR2P1 LOC389033 GPR39 FAM201B MZT2B TUBA3E LOC101927924 WTH3DI MED15P9 LINC01120 GPR148 LOC440910 LINC01087 C2orf27A ANKRD30BL FAR2P2 POTEKP C2orf27B
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