Hs01683571_cn

• Gene Symbol: TOR1B
• Assay Reference Genome Location: Chr.9:129810590 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 27348
• Gene Name: torsin family 1 member B
• Gene Aliases: DQ1
• Location: Chr.9:129803143-129811424 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOR1B	NM_001317893.1	4	1075	NP_001304822.1
	NM_001317894.1	3	899	NP_001304823.1
	NM_014506.2	5	2088	NP_055321.1
	NR_133948.1	5	2229
	NR_134027.1	3	1646
	NR_134113.1	5	1344
	XM_005251927.3	5	1198	XP_005251984.1
	AF007872.1	4	1809	AAC51733.1
	AF317129.1	5	2078	AAG50271.1
	BC006480.1	1	901	AAH06480.1
	BC015578.2	5	2033	AAH15578.1
	BU633792.1

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	PRRX2 MIR6855 USP20 PTGES C9orf50 C9orf78 FNBP1 NTMT1 TOR1B PRRX2-AS1 TOR1A ASB6
esv3621839	Chr.9:129701704 - 129885823 on Build GRCh38	Loss	PRRX2 MIR6855 USP20 PTGES C9orf78 TOR1B PRRX2-AS1 TOR1A
nsv6729	Chr.9:129789659 - 129814916 on Build GRCh38	Insertion	TOR1B TOR1A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

response to unfolded protein
endoplasmic reticulum organization
chaperone mediated protein folding requiring cofactor
protein homooligomerization
nuclear membrane organization

Function(s)

protein binding
ATP binding
ATPase activity