Hs01873823_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130764533 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	2635	NP_001098663.1
	NM_001105194.1	2	2571	NP_001098664.1
	NM_001105195.1	2	2568	NP_001098665.1
	NM_152698.2	2	2651	NP_689911.2
	XM_011510793.2	2	3677	XP_011509095.1
	AK095696.1	2	2615	BAC04612.1
	AK289525.1	2	2720
	AK291424.1	2	2615
	BC113445.1	2	2528
	BC113447.1	2	2528
	BC143806.1	2	2525

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