Hs00983419_cn

• Gene Symbol: AMER3
• Assay Reference Genome Location: Chr.2:130762970 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	1072	NP_001098663.1
	NM_001105194.1	2	1008	NP_001098664.1
	NM_001105195.1	2	1005	NP_001098665.1
	NM_152698.2	2	1088	NP_689911.2
	XM_011510793.2	2	2114	XP_011509095.1
	AK095696.1	2	1052	BAC04612.1
	AK289525.1	2	1157
	AK291424.1	2	1052
	BC113445.1	2	965
	BC113447.1	2	965
	BC143806.1	2	962

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 POTEJ TISP43 LOC440910 POTEI FAM168B POTEE AMER3 GPR148 ARHGEF4 CFC1 CYP4F30P
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	PLEKHB2 LOC440910 POTEI FAM168B POTEE AMER3 GPR148 ARHGEF4 CYP4F30P
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEJ LOC150776 FAM168B AMER3 GPR148 MIR4784 CYP4F30P WTH3DI PLEKHB2 LOC440910 POTEI LINC01120 POTEKP POTEE MZT2A CCDC74A NOC2LP2 TUBA3D ARHGEF4
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	POTEI AMER3 GPR148 ARHGEF4
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	LOC150776 FAM168B AMER3 GPR148 MIR4784 WTH3DI PLEKHB2 LOC440910 POTEI LINC01120 POTEE MZT2A NOC2LP2 TUBA3D 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 POTEE AMER3 GPR148 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	LOC150776 FAM168B AMER3 GPR148 MIR4784 WTH3DI PLEKHB2 LOC440910 POTEI LINC01120 POTEE MZT2A CCDC74A NOC2LP2 TUBA3D ARHGEF4
nsv10175	Chr.2:130762563 - 130766308 on Build GRCh38	Loss	POTEI AMER3
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	POTEJ LOC150776 FAM168B AMER3 GPR148 MIR4784 CYP4F30P WTH3DI PLEKHB2 LOC440910 POTEI LINC01120 POTEE MZT2A NOC2LP2 TUBA3D ARHGEF4
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC101927924 MIR663B TISP43 FAM168B MIR4784 C2orf27B FAM201B ZNF806 LOC440910 POTEKP CFC1B C2orf27A ARHGEF4 CCDC74B LOC100507460 IMP4 PTPN18 POTEF AMER3 RAB6C PLEKHB2 LOC646743 POTEI POTEE MZT2A NOC2LP2 TUBA3D LOC107985778 CCDC115 MZT2B MED15P9 LINC01087 SMPD4 LOC150776 GPR148 FAR2P1 WTH3DI LINC01120 FAR2P2 RAB6C-AS1 POTEJ GPR39 CFC1 CYP4F30P ANKRD30BL TUBA3E LOC389033 CCDC74A NOC2LP1 CYP4F62P
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC101927924 MZT2B MED15P9 SMPD4 TISP43 GPR148 FAR2P1 CFC1B ARHGEF4 CCDC74B FAR2P2 RAB6C-AS1 POTEJ IMP4 PTPN18 POTEF AMER3 RAB6C CFC1 CYP4F30P TUBA3E LOC646743 POTEI LOC389033 NOC2LP1 LOC107985778 CCDC115 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