Hs04678588_cn

• Gene Symbol: POTEI
• Assay Reference Genome Location: Chr.2:130738173 on build GRCh38
• Cytoband: 2q21.1

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	LOC440910 FAM168B CFC1 ARHGEF4 PLEKHB2 POTEE TISP43 AMER3 CYP4F30P POTEI GPR148 POTEJ
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	LOC440910 FAM168B ARHGEF4 PLEKHB2 POTEE AMER3 CYP4F30P POTEI GPR148
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	FAM168B LOC150776 NOC2LP2 MZT2A WTH3DI TUBA3D AMER3 CYP4F30P POTEKP CCDC74A POTEI MIR4784 LOC440910 ARHGEF4 PLEKHB2 POTEE LINC01120 GPR148 POTEJ
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	ARHGEF4 AMER3 POTEI GPR148
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	LOC440910 FAM168B ARHGEF4 PLEKHB2 POTEE WTH3DI AMER3 POTEI GPR148
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B ARHGEF4 PLEKHB2 AMER3 POTEI GPR148
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	LOC440910 FAM168B ARHGEF4 PLEKHB2 POTEE AMER3 CYP4F30P POTEI GPR148
esv3575299	Chr.2:130680940 - 130753107 on Build GRCh38	Gain	CYP4F30P POTEI GPR148
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B ARHGEF4 PLEKHB2 AMER3 POTEI GPR148
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	FAM168B LOC150776 NOC2LP2 MZT2A WTH3DI TUBA3D AMER3 CCDC74A POTEI MIR4784 LOC440910 ARHGEF4 PLEKHB2 POTEE LINC01120 GPR148
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	FAM168B LOC150776 NOC2LP2 MZT2A WTH3DI TUBA3D AMER3 CYP4F30P POTEI MIR4784 LOC440910 ARHGEF4 PLEKHB2 POTEE LINC01120 GPR148 POTEJ
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	C2orf27B MZT2B WTH3DI CFC1B AMER3 PTPN18 ARHGEF4 LOC646743 LINC01120 CYP4F62P FAM168B CFC1 ANKRD30BL LOC150776 NOC2LP2 MZT2A CCDC74B POTEI LOC101927924 POTEF IMP4 ZNF806 NOC2LP1 C2orf27A RAB6C POTEJ TUBA3E RAB6C-AS1 CCDC115 FAR2P2 CYP4F30P LINC01087 SMPD4 POTEKP MIR4784 LOC440910 PLEKHB2 LOC107985778 GPR148 FAR2P1 LOC100507460 FAM201B TUBA3D CCDC74A GPR39 POTEE MED15P9 TISP43 LOC389033 MIR663B
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	MZT2B TUBA3E RAB6C-AS1 CCDC115 CFC1B FAR2P2 AMER3 CYP4F30P SMPD4 PTPN18 ARHGEF4 LOC646743 LOC107985778 GPR148 FAR2P1 CYP4F62P CFC1 CCDC74B POTEI LOC101927924 POTEF IMP4 MED15P9 NOC2LP1 TISP43 LOC389033 RAB6C POTEJ

More Information

Additional Information:

For this assay, SNP(s) [rs75557753] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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