Hs00822483_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130763513 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	1615	NP_001098663.1
	NM_001105194.1	2	1551	NP_001098664.1
	NM_001105195.1	2	1548	NP_001098665.1
	NM_152698.2	2	1631	NP_689911.2
	XM_011510793.2	2	2657	XP_011509095.1
	AK095696.1	2	1595	BAC04612.1
	AK289525.1	2	1700
	AK291424.1	2	1595
	BC113445.1	2	1508
	BC113447.1	2	1508
	BC143806.1	2	1505

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

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