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See other PLEKHB2 CNV Assays ›
Gene Symbol
PLEKHB2
Assay Reference Genome
Location

Chr.2:131116040 on build GRCh38
Cytoband
2q21.1
Assay ID Hs05864354_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

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

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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