Hs01097429_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130762815 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	917	NP_001098663.1
	NM_001105194.1	2	853	NP_001098664.1
	NM_001105195.1	2	850	NP_001098665.1
	NM_152698.2	2	933	NP_689911.2
	XM_011510793.2	2	1959	XP_011509095.1
	AK095696.1	2	897	BAC04612.1
	AK289525.1	2	1002
	AK291424.1	2	897
	BC113445.1	2	810
	BC113447.1	2	810
	BC143806.1	2	807

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