Hs02133555_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130763937 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	2039	NP_001098663.1
	NM_001105194.1	2	1975	NP_001098664.1
	NM_001105195.1	2	1972	NP_001098665.1
	NM_152698.2	2	2055	NP_689911.2
	XM_011510793.2	2	3081	XP_011509095.1
	AK095696.1	2	2019	BAC04612.1
	AK289525.1	2	2124
	AK291424.1	2	2019
	BC113445.1	2	1932
	BC113447.1	2	1932
	BC143806.1	2	1929

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

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