Hs04707894_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130767226 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMER3	NM_001105193.1	2	5328	NP_001098663.1
	NM_001105194.1	2	5264	NP_001098664.1
	NM_001105195.1	2	5261	NP_001098665.1
	NM_152698.2	2	5344	NP_689911.2
	XM_011510793.2	2	6370	XP_011509095.1

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 POTEJ GPR148 PLEKHB2 ARHGEF4 AMER3 CFC1 TISP43 FAM168B POTEI POTEE LOC440910
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	CYP4F30P GPR148 PLEKHB2 ARHGEF4 AMER3 FAM168B POTEI POTEE LOC440910
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	GPR148 PLEKHB2 ARHGEF4 AMER3 FAM168B POTEI
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	CYP4F30P MZT2A POTEKP WTH3DI PLEKHB2 LOC150776 TUBA3D NOC2LP2 CCDC74A POTEI POTEE LOC440910 POTEJ GPR148 LINC01120 ARHGEF4 MIR4784 AMER3 FAM168B
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	GPR148 ARHGEF4 AMER3 POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	CYP4F30P GPR148 PLEKHB2 ARHGEF4 AMER3 FAM168B POTEI POTEE LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	GPR148 PLEKHB2 ARHGEF4 AMER3 FAM168B POTEI
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	MZT2A WTH3DI PLEKHB2 LOC150776 TUBA3D NOC2LP2 POTEI POTEE LOC440910 GPR148 LINC01120 ARHGEF4 MIR4784 AMER3 FAM168B
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	MZT2A WTH3DI PLEKHB2 LOC150776 TUBA3D NOC2LP2 CCDC74A POTEI POTEE LOC440910 GPR148 LINC01120 ARHGEF4 MIR4784 AMER3 FAM168B
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	CYP4F30P MZT2A WTH3DI PLEKHB2 LOC150776 TUBA3D NOC2LP2 POTEI POTEE LOC440910 POTEJ GPR148 LINC01120 ARHGEF4 MIR4784 AMER3 FAM168B
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	C2orf27B LOC101927924 MZT2A PLEKHB2 MZT2B TUBA3D CCDC115 LOC100507460 POTEF GPR39 POTEI POTEE FAR2P1 FAM201B PTPN18 ARHGEF4 AMER3 NOC2LP1 ANKRD30BL POTEKP RAB6C-AS1 WTH3DI FAR2P2 LOC646743 MIR663B CCDC74B POTEJ CYP4F62P MIR4784 FAM168B MED15P9 LINC01087 RAB6C LOC440910 IMP4 CFC1 LOC389033 ZNF806 CFC1B CYP4F30P SMPD4 LOC150776 TISP43 NOC2LP2 CCDC74A LOC107985778 TUBA3E GPR148 C2orf27A LINC01120
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC101927924 RAB6C MZT2B CCDC115 POTEF POTEI FAR2P1 PTPN18 IMP4 ARHGEF4 AMER3 CFC1 NOC2LP1 LOC389033 CFC1B CYP4F30P SMPD4 RAB6C-AS1 TISP43 FAR2P2 LOC646743 LOC107985778 CCDC74B TUBA3E POTEJ GPR148 CYP4F62P MED15P9

More Information

• Set Membership: Intragenic, Exonic, 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