Hs01034605_cn

• Gene Symbol: ACTN3
• Assay Reference Genome Location: Chr.11:66558139 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 89
• Gene Name: actinin alpha 3 (gene/pseudogene)
• Gene Aliases: -
• Location: Chr.11:66546395-66563329 on Build GRCh38
• Assay Gene Location: Overlaps Exon 12 - Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACTN3	NM_001104.3			NP_001095.2
	NM_001258371.2			NP_001245300.2
	NR_047663.2
	AK125851.1
	AK303044.1
	AK313556.1
	BC096323.2			AAH96323.1
	BC099647.3			AAH99647.1
	BC099648.1			AAH99648.1
	BC099649.3			AAH99649.1
	M86407.1			AAA51585.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3626696	Chr.11:66552406 - 66562756 on Build GRCh38	Loss	ACTN3
esv2744639	Chr.11:66552336 - 66562723 on Build GRCh38	Deletion	ACTN3
nsv522277	Chr.11:66466552 - 66726354 on Build GRCh38	Loss	LOC101928069 PELI3 CTSF ACTN3 ZDHHC24 CCDC87 DPP3 BBS1 CCS RBM14 SPTBN2 RBM4 RBM14-RBM4 RBM4B

More Information

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

Gene Ontology Categories:

Process(es)

regulation of the force of skeletal muscle contraction
skeletal muscle atrophy
transition between fast and slow fiber
response to denervation involved in regulation of muscle adaptation
muscle filament sliding
regulation of apoptotic process
negative regulation of glycolytic process
focal adhesion assembly
positive regulation of skeletal muscle tissue growth
negative regulation of calcineurin-NFAT signaling cascade
negative regulation of oxidative phosphorylation
regulation of aerobic respiration
positive regulation of glucose catabolic process to lactate via pyruvate

Function(s)

actin binding
integrin binding
calcium ion binding
protein binding
structural constituent of muscle
protein homodimerization activity
ion channel binding