Hs02387804_cn

• Gene Symbol: UNC119
• Assay Reference Genome Location: Chr.17:28548649 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 9094
• Gene Name: unc-119 lipid binding chaperone
• Gene Aliases: HRG4, IMD13, POC7, POC7A
• Location: Chr.17:28546707-28552633 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UNC119	NM_005148.3			NP_005139.1
	NM_054035.2			NP_473376.1
	XM_011525459.2			XP_011523761.1
	XM_017025289.1			XP_016880778.1
	AB593014.1
	AF028788.1			AAD01875.1
	AF028789.1			AAD01876.1
	AK124531.1	1	3154
	AK292329.1
	BC027176.1			AAH27176.1
	BM848267.1
	BX641031.1	1	3077	CAE46019.1
	BX648530.1	1	751
	U40998.1			AAC50360.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1064958	Chr.17:28490519 - 28565886 on Build GRCh38	Loss	UNC119 FOXN1 PIGS SLC13A2
nsv1064087	Chr.17:28462253 - 28755692 on Build GRCh38	Gain	NARR SNORD4A UNC119 FOXN1 SGK494 ALDOC SNORD42B SNORD42A PROCA1 SPAG5 RPS7P1 NEK8 KIAA0100 SPAG5-AS1 TLCD1 SNORD4B SUPT6H SDF2 RPL23A PIGS SLC13A2 TRAF4 RAB34

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

endocytosis
chemical synaptic transmission
visual perception
phototransduction
protein transport
lipoprotein transport
positive regulation of protein tyrosine kinase activity
negative regulation of clathrin-mediated endocytosis
negative regulation of caveolin-mediated endocytosis

Function(s)

protein binding
lipid binding