Hs00652432_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130762456 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	558	NP_001098663.1
	NM_001105194.1	2	494	NP_001098664.1
	NM_001105195.1	2	491	NP_001098665.1
	NM_152698.2	2	574	NP_689911.2
	XM_011510793.2	2	1600	XP_011509095.1
	AK095696.1	2	538	BAC04612.1
	AK289525.1	2	643
	AK291424.1	2	538
	BC113445.1	2	451
	BC113447.1	2	451
	BC143806.1	2	448
	DA318919.1	2	482
	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	CFC1 FAM168B ARHGEF4 CYP4F30P POTEJ LOC440910 GPR148 POTEI PLEKHB2 TISP43 POTEE AMER3
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	FAM168B ARHGEF4 CYP4F30P LOC440910 GPR148 POTEI PLEKHB2 POTEE AMER3
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B ARHGEF4 GPR148 POTEI PLEKHB2 AMER3
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	TUBA3D FAM168B CYP4F30P MZT2A POTEJ POTEKP LOC440910 WTH3DI PLEKHB2 POTEE NOC2LP2 CCDC74A ARHGEF4 MIR4784 LINC01120 LOC150776 GPR148 POTEI AMER3
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	ARHGEF4 GPR148 POTEI AMER3
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	FAM168B ARHGEF4 CYP4F30P LOC440910 GPR148 POTEI PLEKHB2 POTEE AMER3
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B ARHGEF4 GPR148 POTEI PLEKHB2 AMER3
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	TUBA3D FAM168B MZT2A LOC440910 WTH3DI PLEKHB2 POTEE NOC2LP2 ARHGEF4 MIR4784 LINC01120 LOC150776 GPR148 POTEI AMER3
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	TUBA3D FAM168B MZT2A LOC440910 WTH3DI PLEKHB2 POTEE NOC2LP2 CCDC74A ARHGEF4 MIR4784 LINC01120 LOC150776 GPR148 POTEI AMER3
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	TUBA3D FAM168B CYP4F30P MZT2A POTEJ LOC440910 WTH3DI PLEKHB2 POTEE NOC2LP2 ARHGEF4 MIR4784 LINC01120 LOC150776 GPR148 POTEI AMER3
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	IMP4 TUBA3D ZNF806 LOC646743 RAB6C-AS1 POTEI SMPD4 AMER3 CCDC74B MZT2A POTEJ GPR39 CCDC115 NOC2LP1 MIR4784 LOC150776 PTPN18 TISP43 FAM168B CYP4F30P LOC440910 FAR2P2 WTH3DI RAB6C ANKRD30BL FAM201B MIR663B C2orf27A CFC1 FAR2P1 LOC100507460 MZT2B CFC1B TUBA3E POTEKP PLEKHB2 C2orf27B POTEE NOC2LP2 CYP4F62P CCDC74A LINC01087 ARHGEF4 POTEF LINC01120 MED15P9 LOC101927924 GPR148 LOC107985778 LOC389033
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	IMP4 LOC646743 CYP4F30P FAR2P2 RAB6C RAB6C-AS1 POTEI SMPD4 AMER3 CCDC74B CFC1 FAR2P1 MZT2B POTEJ CFC1B TUBA3E CYP4F62P CCDC115 NOC2LP1 ARHGEF4 POTEF MED15P9 LOC101927924 PTPN18 GPR148 LOC107985778 TISP43 LOC389033

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