Hs01701776_cn

• Gene Symbol: APBA3
• Assay Reference Genome Location: Chr.19:3750812 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 9546
• Gene Name: amyloid beta precursor protein binding family A member 3
• Gene Aliases: MGC:15815, X11L2, mint3
• Location: Chr.19:3750773-3761697 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APBA3	NM_004886.3			NP_004877.1
	BG938716.1
	BM977984.1	1	60
	BQ707748.1	1	111

Target Gene Details

• Entrez Gene ID: 27134
• Gene Name: tight junction protein 3
• Gene Aliases: ZO-3, ZO3
• Location: Chr.19:3708337-3750813 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TJP3	NM_001267560.1			NP_001254489.1
	NM_001267561.1			NP_001254490.1
	AK027292.1			BAB55020.1
	AK091118.1
	AK128237.1
	AK304462.1
	BM981999.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509718	Chr.19:3676947 - 3844683 on Build GRCh38	Insertion	RAX2 MRPL54 APBA3 ZFR2 MATK PIP5K1C TJP3
nsv470114	Chr.19:3372516 - 3855979 on Build GRCh38	Loss	C19orf71 APBA3 ZFR2 FZR1 TBXA2R NFIC SMIM24 PIP5K1C TJP3 DOHH CACTIN RAX2 MRPL54 HMG20B MFSD12 CACTIN-AS1 GIPC3 MATK

More Information

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

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein, tight junction

Gene Ontology Categories:

Process(es)

in utero embryonic development
chemical synaptic transmission
regulation of gene expression
protein transport
negative regulation of catalytic activity

Function(s)

beta-amyloid binding
enzyme inhibitor activity
protein binding
enzyme binding