Hs01284699_cn

• Gene Symbol: TOR2A
• Assay Reference Genome Location: Chr.9:127731751 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 27433
• Gene Name: torsin family 2 member A
• Gene Aliases: TORP1
• Location: Chr.9:127731524-127735387 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOR2A	NM_001085347.2	5	1328	NP_001078816.1
	NM_001134430.2	4	1200	NP_001127902.1
	NM_001134431.2	2	2040	NP_001127903.1
	NM_001252018.1	4	1062	NP_001238947.1
	NM_001252021.1	4	1059	NP_001238950.1
	NM_001252023.1	3	934	NP_001238952.1
	NM_130459.3	3	2306	NP_569726.2
	XM_011518554.1	5	1363	XP_011516856.1
	AK027677.1	3	2241	BAB55288.1
	AK055034.1	2	1985
	AK075520.1	4	1143	BAC11667.1
	AK092388.1	2	3272
	AY358180.1	5	1295	AAQ88547.1
	BC062340.1	4	1027	AAH62340.1
	BC080527.1	3	860

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv12879n54	Chr.9:127731234 - 127824409 on Build GRCh38	Loss	MIR2861 TOR2A MIR3960 SH2D3C FPGS CDK9 TTC16 LOC102723566 ENG
nsv471323	Chr.9:127727464 - 127845239 on Build GRCh38	Loss	MIR2861 TOR2A MIR3960 SH2D3C FPGS CDK9 TTC16 LOC102723566 ENG
nsv466571	Chr.9:127707924 - 127774438 on Build GRCh38	Loss	PTRH1 TOR2A SH2D3C TTC16 CFAP157

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

chaperone mediated protein folding requiring cofactor
protein homooligomerization

Function(s)

ATP binding