Hs00813338_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130762102 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	204	NP_001098663.1
	NM_001105194.1	2	140	NP_001098664.1
	NM_001105195.1	2	137	NP_001098665.1
	NM_152698.2	2	220	NP_689911.2
	XM_011510793.2	2	1246	XP_011509095.1
	AK095696.1	2	184	BAC04612.1
	AK289525.1	2	289
	AK291424.1	2	184
	BC113445.1	2	97
	BC113447.1	2	97
	BC143806.1	2	94
	DA102742.1	2	289
	DA318919.1	2	128
	DA401709.1	2	140
	DA500900.1	2	205
	DA773233.1	2	220

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

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