Hs04570191_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130757797 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	POTEJ CFC1 LOC440910 GPR148 FAM168B CYP4F30P PLEKHB2 POTEE ARHGEF4 TISP43 AMER3 POTEI
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	LOC440910 GPR148 FAM168B CYP4F30P PLEKHB2 POTEE ARHGEF4 AMER3 POTEI
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	CCDC74A TUBA3D CYP4F30P POTEE ARHGEF4 AMER3 POTEJ LOC440910 LINC01120 NOC2LP2 GPR148 FAM168B LOC150776 PLEKHB2 MZT2A POTEKP WTH3DI MIR4784 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	GPR148 FAM168B PLEKHB2 ARHGEF4 AMER3 POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	LOC440910 GPR148 FAM168B CYP4F30P PLEKHB2 POTEE ARHGEF4 AMER3 POTEI
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	GPR148 ARHGEF4 AMER3 POTEI
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	LOC440910 GPR148 FAM168B PLEKHB2 POTEE WTH3DI ARHGEF4 AMER3 POTEI
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	GPR148 FAM168B PLEKHB2 ARHGEF4 AMER3 POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	CCDC74A TUBA3D POTEE ARHGEF4 AMER3 LOC440910 LINC01120 NOC2LP2 GPR148 FAM168B LOC150776 PLEKHB2 MZT2A WTH3DI MIR4784 POTEI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	TUBA3D CYP4F30P POTEE ARHGEF4 AMER3 POTEJ LOC440910 LINC01120 NOC2LP2 GPR148 FAM168B LOC150776 PLEKHB2 MZT2A WTH3DI MIR4784 POTEI
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	CCDC115 ANKRD30BL ARHGEF4 LOC389033 LOC150776 PLEKHB2 POTEKP WTH3DI MIR4784 POTEI CCDC74A ZNF806 LINC01087 POTEF MIR663B CFC1B MZT2B GPR39 POTEJ LOC440910 LINC01120 NOC2LP1 MZT2A RAB6C LOC646743 LOC101927924 FAR2P2 CYP4F30P POTEE AMER3 CFC1 NOC2LP2 TUBA3E RAB6C-AS1 FAR2P1 IMP4 TUBA3D CYP4F62P C2orf27A SMPD4 CCDC74B LOC107985778 TISP43 GPR148 FAM168B MED15P9 FAM201B C2orf27B LOC100507460 PTPN18
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC646743 LOC101927924 FAR2P2 CYP4F30P CCDC115 ARHGEF4 AMER3 CFC1 LOC389033 TUBA3E RAB6C-AS1 FAR2P1 POTEI IMP4 CYP4F62P POTEF CFC1B SMPD4 MZT2B CCDC74B LOC107985778 TISP43 POTEJ GPR148 MED15P9 NOC2LP1 PTPN18 RAB6C

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