Hs04631479_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130754976 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMER3	XM_011510793.2	1	502	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	FAM168B POTEJ PLEKHB2 POTEI CFC1 POTEE CYP4F30P ARHGEF4 TISP43 AMER3 GPR148 LOC440910
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	FAM168B PLEKHB2 POTEI POTEE CYP4F30P ARHGEF4 AMER3 GPR148 LOC440910
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	NOC2LP2 FAM168B MIR4784 WTH3DI POTEI CCDC74A LOC150776 MZT2A POTEKP TUBA3D POTEJ PLEKHB2 POTEE CYP4F30P ARHGEF4 LINC01120 AMER3 GPR148 LOC440910
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	POTEI ARHGEF4 AMER3 GPR148
esv2720775	Chr.2:130754734 - 130755198 on Build GRCh38	Deletion	POTEI AMER3
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	FAM168B WTH3DI PLEKHB2 POTEI POTEE ARHGEF4 AMER3 GPR148 LOC440910
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B PLEKHB2 POTEI ARHGEF4 AMER3 GPR148
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	FAM168B PLEKHB2 POTEI POTEE CYP4F30P ARHGEF4 AMER3 GPR148 LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B PLEKHB2 POTEI ARHGEF4 AMER3 GPR148
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	NOC2LP2 FAM168B MIR4784 WTH3DI POTEI CCDC74A LOC150776 MZT2A TUBA3D PLEKHB2 POTEE ARHGEF4 LINC01120 AMER3 GPR148 LOC440910
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	NOC2LP2 FAM168B MIR4784 WTH3DI POTEI LOC150776 MZT2A TUBA3D POTEJ PLEKHB2 POTEE CYP4F30P ARHGEF4 LINC01120 AMER3 GPR148 LOC440910
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	NOC2LP2 MIR4784 IMP4 NOC2LP1 LOC646743 C2orf27A ZNF806 LOC389033 CFC1B SMPD4 LOC101927924 POTEE CYP4F30P TISP43 TUBA3E CYP4F62P GPR39 FAM168B FAR2P2 RAB6C POTEI PTPN18 CFC1 LOC100507460 MIR663B LOC150776 MZT2A POTEKP ARHGEF4 CCDC74B LINC01087 WTH3DI CCDC115 CCDC74A MZT2B FAM201B FAR2P1 AMER3 GPR148 LOC440910 MED15P9 C2orf27B RAB6C-AS1 POTEF TUBA3D POTEJ PLEKHB2 ANKRD30BL LINC01120 LOC107985778
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	IMP4 NOC2LP1 LOC646743 CCDC115 LOC389033 CFC1B MZT2B SMPD4 LOC101927924 CYP4F30P TISP43 TUBA3E CYP4F62P FAR2P1 AMER3 GPR148 FAR2P2 RAB6C POTEI PTPN18 MED15P9 CFC1 RAB6C-AS1 POTEF POTEJ ARHGEF4 CCDC74B LOC107985778

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