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

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