Hs01721483_cn

• Gene Symbol: ACTL10
• Assay Reference Genome Location: Chr.20:33667640 on build GRCh38
• Cytoband: 20q11.22

Target Gene Details

• Entrez Gene ID: 170487
• Gene Name: actin like 10
• Gene Aliases: C20orf134, dJ63M2.2
• Location: Chr.20:33666498-33668525 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACTL10	NM_001024675.1	1	1143	NP_001019846.1
	BC137111.1	1	1123
	BC137114.1	1	1123

Target Gene Details

• Entrez Gene ID: 63941
• Gene Name: N-terminal EF-hand calcium binding protein 3
• Gene Aliases: APBA2BP, EFCBP3, NIP1, STIP3, SYTIP2, XB51, dJ63M2.4, dJ63M2.5
• Location: Chr.20:33657087-33674458 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NECAB3	NM_031231.3			NP_112508.3
	NM_031232.3			NP_112509.3
	XM_005260510.1			XP_005260567.1
	XM_011528992.2			XP_011527294.1
	AB039947.1			BAB16413.1
	AF193759.1			AAG28415.1
	AF409141.1			AAL01118.1
	AK023706.1			BAB14649.1
	AK291895.1
	AK309285.1
	AL519842.3
	BC047673.1			AAH47673.1
	BQ431858.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954024	Chr.20:33638795 - 33698694 on Build GRCh38	Deletion	C20orf144 NECAB3 CBFA2T2 E2F1 ACTL10
nsv1065189	Chr.20:33597378 - 33807579 on Build GRCh38	Loss	ZNF341-AS1 C20orf144 ZNF341 NECAB3 CBFA2T2 PXMP4 E2F1 ACTL10
nsv833961	Chr.20:33605380 - 33836992 on Build GRCh38	Loss	ZNF341-AS1 C20orf144 ZNF341 NECAB3 CBFA2T2 PXMP4 CHMP4B E2F1 ACTL10
nsv482067	Chr.20:33666498 - 33668524 on Build GRCh38	Gain	NECAB3 ACTL10
nsv833960	Chr.20:33569059 - 33688060 on Build GRCh38	Loss	C20orf144 NECAB3 CBFA2T2 E2F1 ACTL10

More Information

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

Panther Classification:

Molecular Function -

actin and actin related protein, actin or actin-binding cytoskeletal protein, cytoskeletal protein

Gene Ontology Categories:

Process(es)

protein secretion
protein metabolic process
regulation of amyloid precursor protein biosynthetic process

Function(s)

calcium ion binding
protein binding