Hs02945137_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130764290 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	2392	NP_001098663.1
	NM_001105194.1	2	2328	NP_001098664.1
	NM_001105195.1	2	2325	NP_001098665.1
	NM_152698.2	2	2408	NP_689911.2
	XM_011510793.2	2	3434	XP_011509095.1
	AK095696.1	2	2372	BAC04612.1
	AK289525.1	2	2477
	AK291424.1	2	2372
	BC113445.1	2	2285
	BC113447.1	2	2285
	BC143806.1	2	2282

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

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