Hs00205906_cn

• Gene Symbol: TOP1MT
• Assay Reference Genome Location: Chr.8:143316015 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 116447
• Gene Name: topoisomerase (DNA) I, mitochondrial
• Gene Aliases: -
• Location: Chr.8:143309324-143359977 on Build GRCh38
• Assay Gene Location: Overlaps Intron 13 - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOP1MT	NM_001258446.1			NP_001245375.1
	NM_001258447.1			NP_001245376.1
	NM_052963.2			NP_443195.1
	XM_005250781.3			XP_005250838.1
	AF349017.1			AAL05624.1
	AK302372.1
	AK303237.1
	AK308475.1
	AK311647.1
	AK315913.1
	AK316380.1
	BC044646.1			AAH44646.1
	BC052285.1			AAH52285.1
	BC071914.1			AAH71914.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470247	Chr.8:143283403 - 143615483 on Build GRCh38	Loss	NAPRT MAFA-AS1 RHPN1-AS1 MROH6 EEF1D TOP1MT ZNF696 ZC3H3 TSTA3 MAFA TIGD5 GSDMD PYCRL RHPN1
nsv950010	Chr.8:143243031 - 143345330 on Build GRCh38	Deletion	TOP1MT ZNF696 MINCR ZFP41 GLI4
nsv1016726	Chr.8:143251666 - 143317866 on Build GRCh38	Loss	TOP1MT ZNF696 MINCR ZFP41 GLI4
esv3573029	Chr.8:143288603 - 143317769 on Build GRCh38	Loss	TOP1MT ZNF696
esv3573030	Chr.8:143299820 - 143317769 on Build GRCh38	Loss	TOP1MT ZNF696
esv2737992	Chr.8:143316040 - 143317026 on Build GRCh38	Deletion	TOP1MT

More Information

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

Panther Classification:

Molecular Function -

DNA topoisomerase

Gene Ontology Categories:

Process(es)

DNA replication
DNA topological change
chromatin remodeling
chromosome segregation

Function(s)

DNA binding
DNA topoisomerase type I activity
DNA topoisomerase type II (ATP-hydrolyzing) activity