Hs04650256_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130757259 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	POTEI GPR148 CYP4F30P AMER3 TISP43 ARHGEF4 CFC1 POTEE FAM168B LOC440910 POTEJ PLEKHB2
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	POTEI GPR148 CYP4F30P AMER3 ARHGEF4 POTEE FAM168B LOC440910 PLEKHB2
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEI TUBA3D AMER3 LOC440910 WTH3DI MIR4784 MZT2A LINC01120 GPR148 CYP4F30P ARHGEF4 POTEE FAM168B CCDC74A POTEKP NOC2LP2 LOC150776 POTEJ PLEKHB2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	POTEI GPR148 AMER3 ARHGEF4 FAM168B PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	POTEI GPR148 CYP4F30P AMER3 ARHGEF4 POTEE FAM168B LOC440910 PLEKHB2
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	POTEI GPR148 AMER3 ARHGEF4
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	POTEI GPR148 AMER3 ARHGEF4 POTEE FAM168B LOC440910 WTH3DI PLEKHB2
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	POTEI GPR148 AMER3 ARHGEF4 FAM168B PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	POTEI TUBA3D AMER3 LOC440910 WTH3DI MIR4784 MZT2A LINC01120 GPR148 ARHGEF4 POTEE FAM168B CCDC74A NOC2LP2 LOC150776 PLEKHB2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	POTEI TUBA3D AMER3 LOC440910 WTH3DI MIR4784 MZT2A LINC01120 GPR148 CYP4F30P ARHGEF4 POTEE FAM168B NOC2LP2 LOC150776 POTEJ PLEKHB2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	SMPD4 WTH3DI GPR39 C2orf27B LINC01120 CYP4F30P FAM168B ANKRD30BL LOC150776 CCDC74B CFC1B AMER3 LOC646743 LOC440910 NOC2LP1 FAM201B MZT2A RAB6C-AS1 GPR148 TUBA3E LOC100507460 MZT2B POTEE CCDC74A LINC01087 FAR2P1 C2orf27A TUBA3D CYP4F62P TISP43 CCDC115 LOC389033 PTPN18 ARHGEF4 CFC1 POTEKP NOC2LP2 POTEJ PLEKHB2 POTEI LOC107985778 POTEF MIR4784 ZNF806 LOC101927924 MED15P9 IMP4 RAB6C MIR663B FAR2P2
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	SMPD4 CYP4F62P TISP43 CCDC115 LOC389033 CYP4F30P PTPN18 ARHGEF4 CFC1 CCDC74B POTEJ POTEI LOC107985778 CFC1B AMER3 POTEF LOC646743 NOC2LP1 LOC101927924 MED15P9 RAB6C-AS1 GPR148 IMP4 TUBA3E MZT2B RAB6C FAR2P1 FAR2P2

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