Hs02397328_cn

• Gene Symbol: TOR2A
• Assay Reference Genome Location: Chr.9:127731497 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: Overlaps - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOR2A	NM_001085347.2			NP_001078816.1
	NM_001134430.2			NP_001127902.1
	NM_001134431.2			NP_001127903.1
	NM_001252018.1			NP_001238947.1
	NM_001252021.1			NP_001238950.1
	NM_001252023.1			NP_001238952.1
	NM_130459.3			NP_569726.2
	XM_011518554.1			XP_011516856.1
	AK027677.1			BAB55288.1
	AK055034.1
	AK075520.1			BAC11667.1
	AK092388.1
	AY358180.1			AAQ88547.1
	BC062340.1			AAH62340.1
	BC080527.1

Target Gene Details

• Entrez Gene ID: 158248
• Gene Name: tetratricopeptide repeat domain 16
• Gene Aliases: -
• Location: Chr.9:127716064-127731600 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTC16	NM_001317037.1	14	2757	NP_001303966.1
	NM_144965.2	14	2796	NP_659402.1
	XM_005251733.1			XP_005251790.1
	XM_005251734.1			XP_005251791.1
	XM_006716970.1			XP_006717033.1
	XM_006716971.1			XP_006717034.1
	XM_011518283.1			XP_011516585.1
	XM_011518284.1			XP_011516586.1
	XM_011518285.1			XP_011516587.1
	XM_011518288.1			XP_011516590.1
	XM_011518289.2			XP_011516591.1
	XM_011518290.1			XP_011516592.1
	XM_011518291.1			XP_011516593.1
	XM_011518292.1			XP_011516594.1
	AK057342.1	14	2781	BAB71437.1
	AK074105.1			BAB84931.1
	AK128011.1			BAC87231.1
	AK302737.1
	BC031281.1			AAH31281.1

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	LOC102723566 SH2D3C TOR2A TTC16 FPGS ENG CDK9 MIR3960 MIR2861
nsv471323	Chr.9:127727464 - 127845239 on Build GRCh38	Loss	LOC102723566 SH2D3C TOR2A TTC16 FPGS ENG CDK9 MIR3960 MIR2861
nsv466571	Chr.9:127707924 - 127774438 on Build GRCh38	Loss	SH2D3C TOR2A CFAP157 TTC16 PTRH1

More Information

• Set Membership: Intragenic, Exonic, Non-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