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	POTEJ PLEKHB2 LOC440910 ARHGEF4 CYP4F30P POTEE FAM168B POTEI CFC1 AMER3 GPR148 TISP43
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	PLEKHB2 LOC440910 ARHGEF4 CYP4F30P POTEE FAM168B POTEI AMER3 GPR148
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	PLEKHB2 ARHGEF4 FAM168B POTEI AMER3 GPR148
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEJ CCDC74A POTEKP PLEKHB2 LOC440910 ARHGEF4 CYP4F30P POTEE MZT2A FAM168B POTEI MIR4784 LOC150776 LINC01120 AMER3 GPR148 WTH3DI TUBA3D NOC2LP2
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	ARHGEF4 POTEI AMER3 GPR148
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	PLEKHB2 LOC440910 ARHGEF4 CYP4F30P POTEE FAM168B POTEI AMER3 GPR148
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	PLEKHB2 ARHGEF4 FAM168B POTEI AMER3 GPR148
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	PLEKHB2 LOC440910 ARHGEF4 POTEE MZT2A FAM168B POTEI MIR4784 LOC150776 LINC01120 AMER3 GPR148 WTH3DI TUBA3D NOC2LP2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	CCDC74A PLEKHB2 LOC440910 ARHGEF4 POTEE MZT2A FAM168B POTEI MIR4784 LOC150776 LINC01120 AMER3 GPR148 WTH3DI TUBA3D NOC2LP2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	POTEJ PLEKHB2 LOC440910 ARHGEF4 CYP4F30P POTEE MZT2A FAM168B POTEI MIR4784 LOC150776 LINC01120 AMER3 GPR148 WTH3DI TUBA3D NOC2LP2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC440910 POTEE FAR2P2 POTEI PTPN18 LOC150776 LOC646743 WTH3DI FAR2P1 GPR39 CCDC74A CFC1B MIR4784 C2orf27B LOC101927924 MED15P9 CCDC115 CFC1 POTEKP PLEKHB2 C2orf27A RAB6C SMPD4 GPR148 LINC01087 FAM201B TUBA3D CCDC74B CYP4F62P NOC2LP2 LOC389033 TISP43 POTEJ ARHGEF4 CYP4F30P NOC2LP1 MZT2A POTEF FAM168B TUBA3E LINC01120 ANKRD30BL IMP4 MZT2B AMER3 ZNF806 LOC107985778 LOC100507460 MIR663B RAB6C-AS1
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	RAB6C FAR2P2 POTEI PTPN18 SMPD4 GPR148 LOC646743 FAR2P1 CCDC74B CYP4F62P LOC389033 TISP43 POTEJ ARHGEF4 CYP4F30P NOC2LP1 POTEF CFC1B TUBA3E IMP4 MZT2B AMER3 LOC101927924 MED15P9 CCDC115 LOC107985778 CFC1 RAB6C-AS1

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