Hs04575486_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130759058 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 205147
• Gene Name: APC membrane recruitment protein 3
• Gene Aliases: FAM123C
• Location: Chr.2:130754475-130768134 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMER3	NM_001105193.1			NP_001098663.1
	NM_001105194.1			NP_001098664.1
	NM_001105195.1			NP_001098665.1
	NM_152698.2			NP_689911.2
	XM_011510793.2			XP_011509095.1
	AK095696.1			BAC04612.1
	AK289525.1
	AK291424.1
	BC113445.1
	BC113447.1
	BC143806.1
	DA102742.1
	DA318919.1
	DA401709.1
	DA500900.1
	DA773233.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs79841643] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

Wnt signaling pathway
anatomical structure development
regulation of canonical Wnt signaling pathway

Function(s)

protein binding
phosphatidylinositol-4,5-bisphosphate binding
beta-catenin binding