Hs01210127_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130764857 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	2959	NP_001098663.1
	NM_001105194.1	2	2895	NP_001098664.1
	NM_001105195.1	2	2892	NP_001098665.1
	NM_152698.2	2	2975	NP_689911.2
	XM_011510793.2	2	4001	XP_011509095.1
	AK095696.1	2	2939	BAC04612.1

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 AMER3 PLEKHB2 LOC440910 POTEI ARHGEF4 GPR148 CFC1 TISP43 POTEE CYP4F30P POTEJ
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	FAM168B AMER3 PLEKHB2 LOC440910 POTEI ARHGEF4 GPR148 POTEE CYP4F30P
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	FAM168B MZT2A CCDC74A TUBA3D LOC440910 POTEI ARHGEF4 POTEKP POTEE AMER3 LOC150776 NOC2LP2 PLEKHB2 WTH3DI MIR4784 GPR148 LINC01120 CYP4F30P POTEJ
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	AMER3 POTEI ARHGEF4 GPR148
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	FAM168B AMER3 PLEKHB2 LOC440910 WTH3DI POTEI ARHGEF4 GPR148 POTEE
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B AMER3 PLEKHB2 POTEI ARHGEF4 GPR148
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	FAM168B AMER3 PLEKHB2 LOC440910 POTEI ARHGEF4 GPR148 POTEE CYP4F30P
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B AMER3 PLEKHB2 POTEI ARHGEF4 GPR148
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	FAM168B MZT2A CCDC74A TUBA3D LOC440910 POTEI ARHGEF4 POTEE AMER3 LOC150776 NOC2LP2 PLEKHB2 WTH3DI MIR4784 GPR148 LINC01120
nsv10175	Chr.2:130762563 - 130766308 on Build GRCh38	Loss	AMER3 POTEI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	FAM168B MZT2A TUBA3D LOC440910 POTEI ARHGEF4 POTEE AMER3 LOC150776 NOC2LP2 PLEKHB2 WTH3DI MIR4784 GPR148 LINC01120 CYP4F30P POTEJ
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	MZT2A CCDC74A C2orf27B IMP4 LOC440910 POTEKP CCDC74B FAR2P2 LOC150776 ANKRD30BL TUBA3E LINC01087 TISP43 POTEF MZT2B FAM201B CYP4F30P ZNF806 RAB6C-AS1 POTEE MED15P9 AMER3 LOC646743 PLEKHB2 MIR4784 LOC107985778 CCDC115 FAR2P1 POTEJ FAM168B LOC389033 TUBA3D POTEI NOC2LP1 CYP4F62P WTH3DI LINC01120 C2orf27A CFC1B RAB6C ARHGEF4 CFC1 LOC100507460 PTPN18 NOC2LP2 LOC101927924 MIR663B GPR39 SMPD4 GPR148
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC389033 IMP4 POTEI CCDC74B FAR2P2 NOC2LP1 CYP4F62P TUBA3E TISP43 POTEF MZT2B CYP4F30P CFC1B RAB6C RAB6C-AS1 ARHGEF4 CFC1 MED15P9 PTPN18 AMER3 LOC646743 LOC101927924 SMPD4 LOC107985778 CCDC115 GPR148 FAR2P1 POTEJ

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