Hs02084091_cn

• Gene Symbol: TOR1A
• Assay Reference Genome Location: Chr.9:129812950 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 1861
• Gene Name: torsin family 1 member A
• Gene Aliases: DQ2, DYT1
• Location: Chr.9:129812942-129824245 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOR1A	NM_000113.2			NP_000104.1
	AF007871.1			AAC51732.1
	AK056062.1
	AK075343.1
	AK130769.1
	BU790507.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1046477	Chr.9:129608081 - 129997996 on Build GRCh38	Gain	USP20 C9orf50 TOR1A MIR6855 NTMT1 FNBP1 TOR1B PRRX2 PRRX2-AS1 ASB6 PTGES C9orf78
esv3621839	Chr.9:129701704 - 129885823 on Build GRCh38	Loss	USP20 TOR1A MIR6855 TOR1B PRRX2 PRRX2-AS1 PTGES C9orf78
nsv6729	Chr.9:129789659 - 129814916 on Build GRCh38	Insertion	TOR1A TOR1B

More Information

Additional Information:

For this assay, SNP(s) [rs79201718] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein deneddylation
response to oxidative stress
organelle organization
nuclear envelope organization
cell adhesion
neuron projection development
protein localization to nucleus
wound healing, spreading of cells
intermediate filament cytoskeleton organization
synaptic vesicle transport
chaperone mediated protein folding requiring cofactor
protein homooligomerization
regulation of dopamine uptake involved in synaptic transmission
chaperone-mediated protein folding
ER-associated misfolded protein catabolic process
nuclear membrane organization
chaperone-mediated protein transport
positive regulation of synaptic vesicle endocytosis
regulation of protein localization to cell surface

Function(s)

protein binding
ATP binding
cytoskeletal protein binding
ATPase activity
kinesin binding
unfolded protein binding
misfolded protein binding