Hs01327483_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130763394 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	1496	NP_001098663.1
	NM_001105194.1	2	1432	NP_001098664.1
	NM_001105195.1	2	1429	NP_001098665.1
	NM_152698.2	2	1512	NP_689911.2
	XM_011510793.2	2	2538	XP_011509095.1
	AK095696.1	2	1476	BAC04612.1
	AK289525.1	2	1581
	AK291424.1	2	1476
	BC113445.1	2	1389
	BC113447.1	2	1389
	BC143806.1	2	1386

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	ARHGEF4 LOC440910 CFC1 CYP4F30P POTEJ PLEKHB2 AMER3 TISP43 GPR148 POTEE FAM168B POTEI
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	ARHGEF4 LOC440910 CYP4F30P PLEKHB2 AMER3 GPR148 POTEE FAM168B POTEI
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	MIR4784 ARHGEF4 CYP4F30P LINC01120 PLEKHB2 GPR148 CCDC74A LOC150776 TUBA3D NOC2LP2 POTEI LOC440910 POTEJ POTEKP AMER3 POTEE FAM168B WTH3DI MZT2A
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	ARHGEF4 AMER3 GPR148 POTEI
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	ARHGEF4 LOC440910 PLEKHB2 AMER3 GPR148 POTEE FAM168B WTH3DI POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 PLEKHB2 AMER3 GPR148 FAM168B POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	ARHGEF4 LOC440910 CYP4F30P PLEKHB2 AMER3 GPR148 POTEE FAM168B POTEI
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 PLEKHB2 AMER3 GPR148 FAM168B POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	MIR4784 ARHGEF4 LINC01120 PLEKHB2 GPR148 CCDC74A LOC150776 TUBA3D NOC2LP2 POTEI LOC440910 AMER3 POTEE FAM168B WTH3DI MZT2A
nsv10175	Chr.2:130762563 - 130766308 on Build GRCh38	Loss	AMER3 POTEI
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	MIR4784 ARHGEF4 CYP4F30P LINC01120 PLEKHB2 GPR148 LOC150776 TUBA3D NOC2LP2 POTEI LOC440910 POTEJ AMER3 POTEE FAM168B WTH3DI MZT2A
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC389033 TUBA3E MIR4784 CCDC115 PLEKHB2 GPR148 C2orf27A LOC440910 LOC101927924 POTEJ CFC1B ZNF806 SMPD4 TISP43 GPR39 POTEI POTEF MIR663B LINC01087 MED15P9 WTH3DI PTPN18 CFC1 LOC107985778 LINC01120 CCDC74A CCDC74B LOC646743 LOC150776 MZT2B CYP4F62P FAM201B NOC2LP1 ANKRD30BL ARHGEF4 CYP4F30P RAB6C FAR2P1 C2orf27B RAB6C-AS1 TUBA3D NOC2LP2 FAR2P2 POTEKP AMER3 IMP4 LOC100507460 POTEE FAM168B MZT2A
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC389033 TUBA3E CFC1 CCDC115 LOC107985778 GPR148 CCDC74B LOC646743 MZT2B CYP4F62P LOC101927924 POTEJ NOC2LP1 CFC1B ARHGEF4 CYP4F30P RAB6C FAR2P1 SMPD4 TISP43 RAB6C-AS1 POTEI POTEF FAR2P2 AMER3 IMP4 MED15P9 PTPN18

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