Hs01221425_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130764695 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	2797	NP_001098663.1
	NM_001105194.1	2	2733	NP_001098664.1
	NM_001105195.1	2	2730	NP_001098665.1
	NM_152698.2	2	2813	NP_689911.2
	XM_011510793.2	2	3839	XP_011509095.1
	AK095696.1	2	2777	BAC04612.1
	AK289525.1	2	2882
	AK291424.1
	BC113445.1
	BC113447.1
	BC143806.1

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

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