Hs01327483_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130763394 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	1496	NP_001098663.1
	NM_001105194.1	2	1432	NP_001098664.1
	NM_001105195.1	2	1429	NP_001098665.1
	NM_152698.2	2	1512	NP_689911.2
	XM_011510793.2	2	2538	XP_011509095.1
	AK095696.1	2	1476	BAC04612.1
	AK289525.1	2	1581
	AK291424.1	2	1476
	BC113445.1	2	1389
	BC113447.1	2	1389
	BC143806.1	2	1386

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	ARHGEF4 POTEE POTEJ CYP4F30P POTEI TISP43 GPR148 FAM168B PLEKHB2 CFC1 AMER3 LOC440910
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	ARHGEF4 POTEE CYP4F30P POTEI GPR148 FAM168B PLEKHB2 AMER3 LOC440910
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	WTH3DI LOC150776 ARHGEF4 POTEE POTEJ NOC2LP2 LINC01120 MZT2A CYP4F30P POTEI GPR148 FAM168B PLEKHB2 AMER3 POTEKP MIR4784 TUBA3D CCDC74A LOC440910
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	ARHGEF4 POTEI GPR148 AMER3
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	WTH3DI LOC150776 ARHGEF4 POTEE NOC2LP2 LINC01120 MZT2A POTEI GPR148 FAM168B PLEKHB2 AMER3 MIR4784 TUBA3D LOC440910
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 POTEI GPR148 FAM168B PLEKHB2 AMER3
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	ARHGEF4 POTEE CYP4F30P POTEI GPR148 FAM168B PLEKHB2 AMER3 LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 POTEI GPR148 FAM168B PLEKHB2 AMER3
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	WTH3DI LOC150776 ARHGEF4 POTEE NOC2LP2 LINC01120 MZT2A POTEI GPR148 FAM168B PLEKHB2 AMER3 MIR4784 TUBA3D CCDC74A LOC440910
nsv10175	Chr.2:130762563 - 130766308 on Build GRCh38	Loss	POTEI AMER3
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	WTH3DI LOC150776 ARHGEF4 POTEE POTEJ NOC2LP2 LINC01120 MZT2A CYP4F30P POTEI GPR148 FAM168B PLEKHB2 AMER3 MIR4784 TUBA3D LOC440910
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	POTEF CFC1B LOC150776 POTEE TUBA3E NOC2LP2 TISP43 GPR148 CCDC115 CFC1 LOC389033 AMER3 C2orf27B CCDC74A LOC107985778 ZNF806 MIR663B CYP4F62P LINC01120 PTPN18 CYP4F30P SMPD4 IMP4 RAB6C MZT2B FAR2P1 MIR4784 TUBA3D LOC101927924 POTEJ MZT2A PLEKHB2 NOC2LP1 FAR2P2 MED15P9 POTEKP ANKRD30BL CCDC74B LOC646743 LOC100507460 LOC440910 WTH3DI ARHGEF4 POTEI FAM201B FAM168B RAB6C-AS1 C2orf27A LINC01087 GPR39
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	POTEF CFC1B TUBA3E POTEJ TISP43 GPR148 NOC2LP1 CCDC115 CFC1 FAR2P2 LOC389033 MED15P9 AMER3 CCDC74B LOC646743 ARHGEF4 LOC107985778 CYP4F62P PTPN18 CYP4F30P POTEI SMPD4 IMP4 RAB6C MZT2B RAB6C-AS1 FAR2P1 LOC101927924

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