Hs06396953_cn

• Gene Symbol: CLN5
• Assay Reference Genome Location: Chr.13:76997719 on build GRCh38
• Cytoband: 13q22.3

Target Gene Details

• Entrez Gene ID: 1203
• Gene Name: ceroid-lipofuscinosis, neuronal 5
• Gene Aliases: NCL
• Location: Chr.13:76991924-77002517 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLN5	NM_006493.2			NP_006484.1
	XM_011534917.2			XP_011533219.1
	AF068227.1			AAC27614.1
	AK075109.1
	AK304001.1

Target Gene Details

• Entrez Gene ID: 26224
• Gene Name: F-box and leucine rich repeat protein 3
• Gene Aliases: FBL3, FBL3A, FBXL3A
• Location: Chr.13:76992597-77027196 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FBXL3	XM_017020538.1			XP_016876027.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832653	Chr.13:76948899 - 77115221 on Build GRCh38	Loss	FBXL3 MYCBP2-AS1 ACOD1 CLN5 MYCBP2
nsv832652	Chr.13:76855107 - 77041507 on Build GRCh38	Gain	FBXL3 BTF3P11 ACOD1 CLN5 KCTD12

More Information

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

Gene Ontology Categories:

Process(es)

signal peptide processing
lysosomal lumen acidification
brain development
neurogenesis
protein catabolic process
neuron maturation
glycosylation
protein ubiquitination
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
protein destabilization
regulation of circadian rhythm
entrainment of circadian clock by photoperiod
rhythmic process

Function(s)

protein binding
mannose binding
ubiquitin-protein transferase activity