Hs04625580_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130756580 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMER3	NM_001105193.1			NP_001098663.1
	NM_001105194.1			NP_001098664.1
	NM_001105195.1			NP_001098665.1
	NM_152698.2			NP_689911.2
	XM_011510793.2			XP_011509095.1
	AK095696.1			BAC04612.1
	AK289525.1
	AK291424.1
	BC113445.1
	BC113447.1
	BC143806.1
	DA102742.1
	DA318919.1
	DA401709.1
	DA500900.1
	DA773233.1

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

More Information

• Set Membership: Intragenic, Intronic, 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