Hs00502275_cn

• Gene Symbol: AMIGO3
• Assay Reference Genome Location: Chr.3:49718972 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 386724
• Gene Name: adhesion molecule with Ig like domain 3
• Gene Aliases: ALI3, AMIGO-3
• Location: Chr.3:49716834-49719805 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMIGO3	NM_198722.2	1	834	NP_942015.1
	AY237003.1	1	494	AAO48944.1
	AY358134.1	1	719	AAQ88501.1
	BC101363.1	1	655	AAI01364.1
	BC101364.1	1	655	AAI01365.1
	BC101365.2	1	655	AAI01366.1
	BC110418.1	1	724
	BQ673901.1

Target Gene Details

• Entrez Gene ID: 63891
• Gene Name: ring finger protein 123
• Gene Aliases: FP1477, KPC1
• Location: Chr.3:49688753-49721529 on Build GRCh38
• Assay Gene Location: Within Intron 37

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF123	NM_022064.4			NP_071347.2
	NR_135218.1
	XM_006713285.1			XP_006713348.1
	XM_011533995.1			XP_011532297.1
	XM_017007018.1			XP_016862507.1
	AF370367.1			AAQ15203.1
	AK022627.1			BAB14139.1
	AK026968.1			BAB15607.1
	AK090632.1
	AK096353.1
	AK126883.1
	AL136729.1			CAB66663.2
	AL832034.1
	AL832138.1
	AL832344.1
	AY744152.1			AAU93470.1
	BC041145.1			AAH41145.1
	BC057392.1			AAH57392.2
	BC088801.1			AAH88801.1
	BC130632.1
	CR627051.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv508217	Chr.3:49578013 - 49732463 on Build GRCh38	Deletion	AMIGO3 APEH BSN RNF123 MST1 IP6K1 GMPPB
nsv482082	Chr.3:49717532 - 49719690 on Build GRCh38	Gain	AMIGO3 RNF123

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
positive regulation of synapse assembly
protein ubiquitination

Function(s)

zinc ion binding
ligase activity